Unit 2 – Prenatal development

CONCEPTION -
Typical prenatal development, which begins with fertilization and ends with birth, takes
between 266 and 280 days (38 to 40 weeks). It can be divided into three periods: germinal,
embryonic, and fetal.
Conception occurs when an egg from the mother is fertilized by a sperm from the father. In
humans, the conception process begins with ovulation, when an ovum, or egg (the largest cell
in the human body), which has been stored in one of the mother’s two ovaries, matures and
is released into the fallopian tube. Ovulation occurs about halfway through the woman’s
menstrual cycle and is aided by the release of a complex combination of hormones. In addition
to helping the egg mature, the hormones also cause the lining of the uterus to grow thicker
and more suitable for implantation of a fertilised egg.
If the woman has had sexual intercourse within one or two days of the egg’s maturation, one
of the up to 500 million sperm deposited by the man’s ejaculation, which are travelling up the
fallopian tube, may fertilize the egg. Although few of the sperm are able to make the long
journey, some of the strongest swimmers succeed in meeting the egg. As the sperm reach the
egg in the fallopian tube, they release enzymes that attack the outer jellylike protective
coating of the egg, each trying to be the first to enter. As soon as one of the millions of sperm
enters the egg’s coating, the egg immediately responds by both blocking out all other
challengers and at the same time pulling in the single successful sperm.

STAGES IN PRENATAL DEVELOPMENT

The period of time required for full development of a fetus in utero is referred to as gestation
(gestare = “to carry” or “to bear”). It can be subdivided into distinct gestational periods. The
first 2 weeks of prenatal development are referred to as the pre-embryonic stage. A
developing human is referred to as an embryo during weeks 3–8, and a fetus from the ninth
week of gestation until birth. In the pre-embryonic and embryonic stages of development, it
is characterised by cell division, migration, and differentiation. By the end of the embryonic
period, all of the organ systems are structured in rudimentary form, although the organs
themselves are either nonfunctional or only semi-functional.

GERMINAL STAGE (Fertilisation to 2 weeks)

The germinal stage begins at conception when the sperm and egg cell unite in one of the two
fallopian tubes. The fertilised egg is called a zygote. Just a few hours after conception, the
single-celled zygote begins making a journey down the fallopian tube to the wall of the uterus.
Cell division begins approximately 24 to 36 hours after conception. Through the process of
mitosis, the zygote first divides into two cells, then into four, eight, sixteen, and so on, a day

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later it has 64 cells. This division continues until the original single cell has developed into the
800 billion or more specialised cells that make up the human body.
Once the eight-cell point has been reached, the cells begin to differentiate and take on certain
characteristics that will determine the type of cells they will eventually become. As the cells
multiply, they will also separate into two distinctive masses: the outer cells will eventually
become the placenta, while the inner cells form the embryo.
Cell division continues at a rapid rate during the approximately week-long journey from
fallopian tube to uterus wall. The cells develop into what is known as a blastocyst. The
blastocyst is made up of three layers, each of which develops into different structures in the
body.
i. Ectoderm: The outer layer of the skin, the nails, hair, teeth, sensory organs, and the
nervous system, including the brain and spinal cord.
ii. Endoderm: The lower layer will become the digestive system, liver, pancreas, salivary
glands, and respiratory system.
iii. Mesoderm: Later a middle layer, will develop and differentiate into the Inner layer of
skin, muscles, skeleton, and excretory and circulatory systems.

Finally, the blastocyst arrives at the uterus and attaches to the uterine wall, a process known
as implantation. Implantation occurs when the cells nestle into the uterine lining and rupture
tiny blood vessels.: The connective web of blood vessels and membranes that form between
them will provide nourishment for the developing being for the next nine months.
Implantation is not always an automatic and sure-fire process.
When implantation is successful, hormonal changes halt the normal menstrual cycle and
cause a whole host of physical changes. For some people, activities they previously enjoyed
such as smoking and drinking alcohol or coffee may become less palatable, possibly part of
nature's way of protecting the growing life inside them.
Other parts of the blastocyst begin to develop into organs that will nurture and protect the
unborn child: the placenta, the umbilical cord, and the amniotic sac with its outermost
membrane, the chorion. The placenta, which has several important functions, will be
connected to the embryo by the umbilical cord. Through this cord the placenta delivers oxygen
and nourishment to the developing baby and removes its body wastes. The placenta also helps
to combat internal infection and gives the unborn child immunity to various diseases. It
produces the hormones that support pregnancy, prepare the mother’s breasts for lactation,
and eventually stimulate the uterine contractions that will expel the baby from the mother's
body. The amniotic sac is a fluid-filled membrane that encases the developing baby, protecting
it and giving it room to move.

EMBRYONIC STAGE (2 to 8 weeks)

At this point, the mass of cells is now known as an embryo. The beginning of the third week
after conception marks the start of the embryonic period, a time when the mass of cells
becomes distinct as a human. The embryonic stage plays an important role in the

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development of the brain. The organs and major body systems - respiratory, digestive, and
nervous system - develop rapidly. This is critical period, when embryo is more vulnerable to
the destructive influences in the prenatal environment. An organ system or structure that is
still developing at the time of exposure is most likely to be affected. Defects that occur later
in pregnancy are likely to be less serious.

The most severely defective embryos usually do not survive beyond the first trimester, or 3
months period of pregnancy. A spontaneous abortion, commonly called a miscarriage, is the
expulsion from the uterus of an embryo that is unable to survive outside the womb. Most
miscarriages result from abnormal pregnancies; about 50 to 70% involve chromosomal
abnormalities. Males are more likely than females to be spontaneously aborted or stillborn
(dead at birth).

Around the fourth week, the head to form, quickly followed by the eyes, nose, ears, and
mouth. The blood vessel that will become the heart start to pulse. During the fifth week, buds
that, will form the arms and legs appear.

By the eighth week of development, the embryo has all of the basic organs and parts except
those of the sex organs. At this point, the embryo weighs just one gram and is about one inch
in length.

By the end of the embryonic period, the basic structures of the brain and central nervous
system have been established. At this point, the basic structure of the peripheral nervous
system is also defined. As neurons form, they migrate to different areas of the brain. Once
they have reached the correct location, they begin to form connections with other neural cells,
establishing rudimentary neural networks.

While the inner layer of embryonic cells is busy forming the embryo itself, the outer layer is
forming the surrounding protective environment that will help the embryo survive the
pregnancy. This environment consists of three major structures: The amniotic sac is the fluid-
filled reservoir in which the embryo will live until birth, and which acts as both a cushion
against outside pressure and as a temperature regulator. The placenta is an organ that allows
the exchange of nutrients between the embryo and the mother, while at the same time
filtering out harmful material. The filtering occurs through a thin membrane that separates
the mother’s blood from the blood of the fetus, allowing them to share only the material that
is able to pass through the filter. Finally, the umbilical cord links the embryo directly to the
placenta and transfers all material to the fetus. Thus the placenta and the umbilical cord
protect the fetus from many foreign agents in the mother’s system that might otherwise pose
a threat.

FETAL STAGE (8 weeks to birth)

The appearance of the first bone cells at about 8 weeks signals the beginning of the fetal stage,
the final stage of gestation. Once cell differentiation is mostly complete, the embryo enters

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the next stage and becomes known as a fetus. The fetal period of prenatal development marks
more important changes in the brain. This period of development begins during the ninth
week and lasts until birth. This stage is marked by amazing change and growth. During this
period, the fetus grows rapidly to about twenty times its previous length, and organs and body
systems becomes more complex. Right up to birth, "finishing touches" such as fingernails,
toenails and eyelids develop.
Fetuses are not passive passengers in their mothers' wombs. Fetuses breathe, kick, turn, flex
their bodies, do somersaults, squint, swallow, make fists, hiccup, and suck their thumbs. The
flexible membranes of the uterine walls and amniotic sac, which surround the protective
buffer of amniotic fluid, permit and even stimulate limited movement.
Scientists can observe fetal movement through ultrasound, using high- frequency sound
waves to detect the outline of the fetus. Other instruments can monitor heart rate, changes
in activity level, states of sleep and wakefulness, and cardiac reactivity. The movements and
activity level of fetuses show marked individual differences, and their heart rates vary in
regularity and speed. There also are differences between males and females. Male fetuses,
regardless of size, are more active and tend to move more vigorously than female fetuses
throughout gestation. Thus infant boy's tendency to be more active than girls may be at least
partly inborn.
Beginning at about the 12th week-of gestation, the fetus swallows and inhales some of the
amniotic fluid in which it floats. The amniotic fluid contains substances that cross the placenta
or from the mother's bloodstream and enters the fetus' own blood stream. Partaking of these
substances may stimulate the budding senses of taste and smell and may contribute to the
development of organs needed for breathing and digestion. The olfactory system, which
controls the sense of smell, is also well developed before birth. Fetuses also respond to the
mother's voice and heartbeat and the vibrations of her body, showing that they can hear and
feel.
The early body systems and structures established in the embryonic stage continue to
develop. The neural tube develops into the brain and spinal cord and neurons continue to
form. Once these neurons have formed, they begin to migrate to their correct locations.
Synapses, or the connections between neurons, also begin to develop.
Between the ninth and twelfth week of gestation (at the earliest), reflexes begin to emerge.
The fetus begins to make reflexive motions with its arms and legs.
During the third month of gestation, the sex organs begin to differentiate. By the end of the
month, all parts of the body will be formed. At this point, the fetus weighs around three
ounces. The fetus continues to grow in both weight and length, although the majority of the
physical growth occurs in the later stages of pregnancy.
The end of the third month also marks the end of the first trimester of pregnancy. During the
second trimester, or months four through six, the heartbeat grows stronger and other body
systems become further developed. Fingernails, hair, eyelashes, and toenails form. Perhaps
most noticeably, the fetus increases about six times in size.

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So what's going on inside the brain during this important period of prenatal development?
The brain and central nervous system also become more responsive during the second
trimester. Around 28 weeks, the brain starts to mature faster, with an activity that greatly
resembles that of a sleeping newborn.
During the period from seven months until birth, the fetus continues to develop, put on
weight, and prepare for life outside the womb. The lungs begin to expand and contract,
preparing the muscles for breathing.

PRENATAL ENVIRONMENTAL INFLUENCES

Although the placenta acts as a filter, it cannot protect the unborn infant from everything that
the mother consumes or encounters. Hazardous elements may still cross through the placenta
and transfer to the developing fetus, causing the unborn infant harm. Hazards during prenatal
development may involve alcohol, tobacco, and drugs.

TERATOGENS
A teratogen is any agent that can potentially cause a birth defect or negatively alter cognitive
and behavioral outcomes. (The word comes from the Greek word tera, meaning "monster.")
So many teratogens exist that practically every fetus is exposed to at least some teratogens.
For this reason, it is difficult to determine which teratogen causes which problem. In addition,
it may take a long time for the effects of a teratogen to show up. Only about half of all potential
effects appear at birth.
Good prenatal care is essential. The developing child is most at risk for some of the most
severe problems during the first three months of development. Unfortunately, this is a time
at which most mothers are unaware that they are pregnant. It is estimated that 10% of all
birth defects are caused by a prenatal exposure or teratogen. Teratogens are factors that can
contribute to birth defects which include some maternal diseases, drugs, alcohol, and stress.
These exposures can also include environmental and occupational exposures. Today, we know
many of the factors that can jeopardise the health of the developing child. Teratogen-caused
birth defects are potentially preventable.
The study of factors that contribute to birth defects is called teratology. Teratogens are usually
discovered after an increased prevalence of a particular birth defect. For example, in the early
1960’s, a drug known as thalidomide was used to treat morning sickness. Exposure of the fetus
during this early stage of development resulted in cases of phocomelia, a congenital
malformation in which the hands and feet are attached to abbreviated arms and legs.
The field of study that investigates the causes of birth defects is called teratology, Some
exposures to teratogens do not cause physical birth defects but can alter the developing brain
and influence cognitive and behavioral functioning. These deficits in functioning are explored
by researchers in the field of behavioral teratology.

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The dose, genetic susceptibility, and the time of exposure to a particular teratogen influence
both the severity of the damage to an embryo or fetus and the type of defect:

• Dose. The dose effect is rather obvious--the greater the dose of an agent, such as a
drug, the greater the effect.
• Genetic susceptibility. The type or severity of abnormalities caused by a teratogen is
linked to the genotype of the pregnant woman and the genotype of the embryo or
fetus. For example, how a mother metabolizes a particular drug can influence the
degree to which the drug's effects are transmitted to the embryo or fetus. The extent
to which an embryo or fetus is vulnerable to a teratogen may also depend on its
genotype. Also, or unknown reasons, male fetuses are far more likely to be affected by
teratogens than female fetuses.
• Time of exposure. Exposure to teratogens does more damage when it occurs at some
points in development than at others. Damage during the germinal period may even
prevent implantation. In general, the embryonic period is more vulnerable than the
fetal period.

PRESCRIPTION AND NONPRESCRIPTION DRUGS

Many women are given prescriptions for drugs while they are pregnant-especially antibiotics,
analgesics, and asthma medications. Prescription as well as nonprescription drugs, however,
may have effects on the embryo or fetus that the women never imagine.
Prescription drugs that can function as teratogens include antibiotics, such as streptomycin
and tetracycline; some antidepressants; certain hormones, such as progestin and synthetic
estrogen: and Accutane (the trade name for isotretinoin, a form of Vitamin A that is often used
to treat acne). Among the birth defects caused by Accutane are heart defects, eye and ear
abnormalities, and brain malformation. In a recent study, isotretinoin was the fourth most
common drug given to female adolescents who were seeking contraception advice from a
physician. However, physicians did not give the adolescent girls adequate information about
the negative effects of isotretinoin on offspring if the girls were to become pregnant. In a
recent review of teratogens that should never be taken during the first trimester of pregnancy,
isotretinoin was on the prohibited list.

Nonprescription drugs that can be harmful include diet pills and high dosages of aspirin.
Research indicates that low doses of aspirin pose no harm for the fetus but that high doses
can contribute to maternal and fetal bleeding.

ILLEGAL DRUGS
Prescription, over-the-counter, or recreational drugs can have serious teratogenic effects. In
general, if medication is required, the lowest dose possible should be used. Combination drug
therapies and first trimester exposures should be avoided. Almost three percent of pregnant
women use illicit drugs such as marijuana, cocaine, Ecstasy and other amphetamines, and

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heroin. These drugs can cause low birth-weight, withdrawal symptoms, birth defects, or
learning or behavioral problems. Babies born with a heroin addiction need heroin just like an
adult addict. The child will need to be gradually weaned from the heroin under medical
supervision; otherwise, the child could have seizures and die.

TOBACCO
Smoking is also considered a teratogen because nicotine travels through the placenta to the
fetus. When the mother smokes, the developing baby experiences a reduction in blood oxygen
levels. Tobacco use during pregnancy has been associated with low birth weight, placenta
previa, birth defects, preterm delivery, fetal growth restriction, and sudden infant death
syndrome. Smoking in the month before getting pregnant and throughout pregnancy
increases the chances of these risks. Quitting smoking before getting pregnant is best.
However, for women who are already pregnant, quitting as early as possible can still help
protect against some health problems for the mother and baby.
Tobacco use during pregnancy is also harmful to a developing fetus. Tobacco use can cause
low birth weight and harm to the developing infant's lungs, which can lead to respiratory
issues after birth. It can also cause birth defects, such as cleft lip or limb abnormalities.
Additionally, tobacco use can cause premature birth, which can present another set of issues.
Premature birth is associated with low birth weight, difficulty feeding, breathing issues, and
development delays.

ALCOHOL
Alcohol use during pregnancy can be very dangerous for the developing fetus. Alcohol can
pass from the mother to the fetus through the umbilical cord. Consumption of alcohol within
the first three months of pregnancy can cause facial abnormalities, as well as growth and
central nervous system issues. Additionally, alcohol use during pregnancy can cause
miscarriage or stillbirth. Furthermore, alcohol use during pregnancy may result in fetal alcohol
syndrome. Fetal alcohol syndrome refers to birth defects or abnormalities that result from
alcohol use during pregnancy. Birth defects may include abnormal physical features, low body
weight, learning difficulties, hyperactive behavior, vision or hearing issues, low IQ, or certain
organ disorders.
Some distinguishing characteristics of fetal alcohol spectrum disorders include more narrow
eye openings, A smooth philtrum, meaning a smooth area between the upper lip and the
nose, and a thin upper lip.
One of the most commonly used teratogens is alcohol. Because half of all pregnancies are
unplanned, it is recommended that women of child-bearing age take great caution against
drinking alcohol when not using birth control and when pregnant. Alcohol consumption,
particularly during the second month of prenatal development, but at any point during
pregnancy, may lead to neurocognitive and behavioral difficulties that can last a lifetime.

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There is no acceptable safe limit for alcohol use during pregnancy, but binge drinking (5 or
more drinks on a single occasion) or having 7 or more drinks during a single week places a
child at particularly high risk. In extreme cases, alcohol consumption can lead to fetal death,
but more frequently it can result in fetal alcohol spectrum disorders (FASD). This terminology
is now used when looking at the effects of exposure and replaces the term fetal alcohol
syndrome. It is preferred because it recognizes that symptoms occur on a spectrum and that
all individuals do not have the same characteristics. Children with FASD share certain physical
features such as flattened noses, small eye openings, small heads, intellectual developmental
delays, and behavioral problems. Those with FASD are more at risk for lifelong problems such
as criminal behavior, psychiatric problems, and unemployment.
The terms alcohol-related neurological disorder (ARND) and alcohol-related birth defects
(ARBD) have replaced the term Fetal Alcohol Effects to refer to those with less extreme
symptoms of FASD. ARBD include kidney, bone and heart problems.

RADIATION
Radiation is energy that travels through air and some materials as waves or tiny particles. We
are exposed to radiation from different natural and artificial sources every day. These include
the sun, microwaves and radio waves.
X-rays are a form of electromagnetic radiation just like visible light, ultraviolet radiation and
microwaves, but they have much more energy and can therefore penetrate most materials.
When penetrating living tissue, the x-ray radiation can damage the cells and their DNA.
A fetus is more sensitive to the harmful effects of radiation than an adult because, among
other things, the cells of the fetus divide more rapidly and its tissues are in rapid growth.
The possible damage to the cells of the fetus by X-ray radiation depends on the intensity of
the radiation and on the stage of pregnancy at which radiation is performed. The risk is higher
in the first trimester of the pregnancy when the organ formation occurs, but lower in the
second and third trimesters. The risk of mental retardation is primarily between week 16 to
25 of pregnancy when the central nervous system of the fetus is developing.
Harmful effects of radiation on the fetus may include miscarriage, malformation, mental
retardation or cancer later in life.

ENVIRONMENTAL POLLUTION
Environmental chemicals can include an exposure to a wide array of agents including
pollution, organic mercury compounds, herbicides, and industrial solvents. Some
environmental pollutants of major concern include lead poisoning, which is connected with
low birth weight and slowed neurological development. Children who live in older housing in
which lead-based paints have been used have been known to eat peeling paint chips thus
being exposed to lead. The chemicals in certain herbicides are also potentially damaging.

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Radiation is another environmental hazard that a pregnant woman must be aware of. If a
mother is exposed to radiation, particularly during the first three months of pregnancy, the
child may suffer some congenital deformities. There is also an increased risk of miscarriage
and stillbirth. Mercury leads to physical deformities and intellectual disabilities

MATERNAL DISEASE
Since the placenta cannot filter out extremely small disease carriers, such as viruses, children
can be born with malaria, measles, chicken pox, mumps, syphilis, or other venereal diseases
that have been transmitted from the mother.
Maternal illnesses increase the chance that a baby will be born with a birth defect or have a
chronic health problem. Some of the diseases that are known to potentially have an adverse
effect on the fetus include: diabetes, cytomegalovirus, toxoplasmosis, Rubella, varicella,
hypothyroidism, and Strep B. If the mother contracts Rubella during the first three months of
pregnancy, damage can occur in the eyes (cataract), ears (deafness), heart (heart disease), or
brain (mental retardation) of the unborn child. On a positive note, Rubella has been nearly
eliminated in the industrial world due to the vaccine created in 1969. Diagnosing these
diseases early and receiving appropriate medical care can help improve the outcomes.
Routine prenatal care now includes screening for gestational diabetes and Strep B.
Maternal diseases and infections can produce defects in offspring by crossing the placental
barrier, or they can cause damage during birth. Rubella (German measles) is one disease that
can cause prenatal defects. A recent study found that cardiac defects, pulmonary problems,
and microcephaly (a condition in which h the baby's head is significantly smaller and less l
developed than normal) among the most common fetal and neonatal outcomes when
pregnant women have. Women who plan to have children should have a blood test before
they become pregnant to determine whether they are immune to the disease.
Syphilis (a sexually transmitted infection) is more damaging later in prenatal development--
four months or more after conception. Damage to offspring includes stillbirth, eye lesions
(which can cause blindness), skin lesions, and congenital syphilis. Penicillin is the only known
treatment for syphilis during pregnancy.
Another infection that has received widespread attention is genital herpes. Newborns
contract this virus when they are delivered through the birth canal of a mother with genital
herpes. About one-third of babies delivered through an infected birth canal die; another one-
fourth become brain damaged. If an active case of genital herpes is detected in a pregnant
woman close to her delivery date, a cesarean section can be performed (in which the infant is
delivered through an incision in the mother's abdomen) to keep the virus from infecting the
newborn.
AIDS is a sexually transmitted infection that is caused by the human immunodeficiency virus
(HIV), which destroys the body's immune system. A mother can infect her offspring with
HIVJAIDS in three ways:

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 1. During gestation across the placenta,
2. During delivery through contact with maternal blood or fluids, and
3. Postpartum (after birth) through breast feeding. The transmission of AIDS through
breast feeding is especially problematic in many developing countries.
Babies born to HIV-infected mothers can be
1. Infected and symptomatic (show HIV symptoms),
2. Infected but asymptomatic (not show HIV symptoms), or
3. Not infected at all.
An infant who is infected and asymptomatic may still develop HIV symptoms through 15
months of age.
The more widespread disease of diabetes, characterised by high levels of sugar in the blood,
also affects offspring. A research review indicated that newborns with physical defects are
more likely to have diabetic mothers. Women who have gestational diabetes also may deliver
very large infants (weighing 10 pounds or more), and the infants are at risk for diabetes and
cardiovascular disease. Also, a recent research review concluded that pre-gestational diabetes
increases the risk of fetal heart disease

OTHER MATERNAL FACTORS

Maternal Stress. Stress represents the effects of any factor able to threaten the homeostasis
of an organism; these either real or perceived threats are referred to as the “stressors” and
comprise a long list of potentially adverse factors, which can be emotional or physical. Because
of a link in blood supply between a mother and fetus, it has been found that stress can leave
lasting effects on a developing fetus, even before a child is born. The best-studied outcomes
of fetal exposure to maternal prenatal stress are preterm birth and low birth weight. Maternal
prenatal stress is also considered responsible for a variety of changes of the child’s brain, and
a risk factor for conditions such as behavioral problems, learning disorders, high levels of
anxiety, attention deficit hyperactivity disorder, autism, and schizophrenia. Furthermore,
maternal prenatal stress has been associated with a higher risk for a variety of immune and
metabolic changes in the child such as asthma, allergic disorders, cardiovascular diseases,
hypertension, hyperlipidemia, diabetes, and obesity.
Toxemia is a frightening condition that is potentially fatal for the mother and the fetus. It is
characterised by high blood pressure, swelling, and weight gain due to a buildup of fluid in the
body tissues, and the presence of protein in the mother's urine. In severe cases the woman
may go into convulsions or coma, placing a tremendous strain on her, which is carried over to
the fetus. Women with toxemia frequently give birth to premature babies or to babies smaller
than average for their gestational age. Like many other types of blood-pressure disorders,
however, toxemia can be treated through medication and diet.

Anoxia is a condition in which the brain of the baby does not receive enough oxygen to allow
it to develop properly. Anoxia can cause certain forms of epilepsy, mental deficiency, cerebral

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palsy, and behavior disorders. If the amount of brain damage is not too severe, however, it
may be possible to compensate for the disorder to some extent. Epilepsy can often be
controlled with drugs, for instance, and many children with cerebral palsy can learn to control
their affected muscles.
Maternal diet and nutrition. A developing embryo or fetus depends completely on its mother
for nutrition, which comes from the mother’s blood. The nutritional status of the embryo or
fetus is determined by the mother's total caloric intake as well as her intake of proteins,
vitamins, and minerals. Children born to malnourished mothers are more likely than other
children to be malformed.
Maternal obesity adversely affects pregnancy outcomes through increased rates of
hypertension, diabetes, respiratory complications, infections, and depression in the mother.
A recent study revealed that at 14 weeks following conception fetuses of obese pregnant
women had less efficient cardiovascular functioning. An earlier study found that maternal
overweight and obesity during pregnancy were associated with an increased risk of preterm
birth, especially extremely preterm delivery. Further, research indicates that maternal obesity
during pregnancy is linked to cardiovascular disease and type 2 diabetes in the adolescent and
adult offspring of these mothers. Research studies have found that maternal obesity is linked
to an increase in stillbirth and increased likelihood that the newborn will be placed in a
neonatal intensive care unit. Further, two recent research reviews concluded that maternal
obesity during pregnancy is associated with an increased likelihood of offspring being obese
in childhood and adulthood. Management of obesity that includes weight loss and increased
exercise prior to pregnancy is likely to benefit the mother and the baby. Limiting gestational
weight gain to 11 to 20 pounds among pregnant women is likely to improve outcomes for the
mother and the child.

One aspect of maternal nutrition that is important for normal prenatal development is folic
acid, a B-complex vitamin. A study of more than 34,000 women showed that taking folic acid
either alone or as part of a multivitamin for at least one year prior to conceiving was linked
with a 70 percent lower risk of delivering between 20 and 28 weeks and a 50 percent lower
risk of delivering between 28 and 32 weeks. A lack of folic acid is related to neural tube defects
in offspring, such as spina bifida (a defect in the spinal cord). And a recent research study in
China found that folic acid supplementation during pregnancy reduced the risk of preterm
birth. It is recommended that pregnant women consume a minimum of 400 micrograms of
folic acid per day (about twice the amount the average woman gets in one day). Orange juice
and spinach are examples of foods rich in folic acid.
Eating fish is often recommended as part of a healthy diet, but pollution has made many fish
a risky choice for pregnant women. Some fish contain high levels of mercury, which is released
into the air both naturally and by industrial pollution. When mercury falls into the water it can
become toxic and accumulate in large fish, such as shark, swordfish, king mackerel, and some
species of large tuna. Mercury is easily transferred across the placenta, and the embryo's
developing brain and nervous system are highly sensitive to the metal. Researchers have
found that prenatal mercury exposure is linked to adverse outcomes, including reduced
placental and fetal growth, miscarriage. preterm birth, and lower intelligence.

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CHILD BIRTH
Childbirth typically starts with contractions and consists of three stages of labour: the dilation
stage, expulsion stage and placental stage. The time it takes to give birth varies from woman
to woman.
Signs that labor has started
The start of childbirth, labor and how women experience giving birth is very individual. No
two births are the same, so having a second baby may be different to the first time.

Most births start naturally (spontaneously) between gestational week 37 and 42. Labor
typically starts when the uterus (womb) starts tightening to produce contractions, but one
may also experience other signs that they are going into labor.
Contractions
Contractions are painful cramps that come more frequently than every 10 minutes or so and
last for 45-60 seconds.
Contractions usually come several minutes apart and last a short time at the start, and as labor
progresses they increase in frequency, duration and intensity. Most women feel the pain in
their lower belly and/or lower back.

STAGES OF CHILD BIRTH

Once labor has started, the contractions change the cervix so it begins to slip away to the sides
to make space for the baby to pass through the birth canal.

The birth canal consists of:

• The pelvis – the bony part of the birth canal
• The muscles in the pelvis
• The vagina – the soft part of the birth canal

The pelvis is funnel-shaped, so its size differs at the different levels of the pelvis. This means
that the baby has to make some rotations during labor to adapt and pass through the pelvis.

Three stages
Labour is divided into three stages: the dilation stage, expulsion stage and placental stage. The
dilation (opening) stage is the longest, while the expulsion (pushing out) stage lasts 30-60
minutes, and the placental stage takes from a few minutes to up to 60 minutes.

Dilation stage
The first stage of labor is called the ‘dilation stage’. At this stage, the cervix (neck of the womb)
has to pull to each side and open to let the baby pass down into the pelvis and be delivered.
The cervix changes from being closed to being 10 cm open (fully dilated). Not until the cervix
is fully dilated, can the baby be delivered.
As the cervix dilates, there will be some blood-tinged vaginal discharge, known as the ‘bloody
show’. This is a sign that the cervix is dilating under the effects of the contractions and the

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pressure from the baby’s head. The waters may break at any stage of labor, but usually this
happens in the active phase of the dilation stage.
Latent phase – first part of the dilation stage
The first part of the dilation stage, the latent phase, is the longest phase of labor. This phase
starts from when a woman have regular contractions less than 10 minutes apart. The
contractions are spaced far apart to begin with, but they gradually increase in strength and
come at shorter intervals.

When the cervix is about 4-5 centimetres dilated, labor transitions to the active phase. The
contractions become more effective and the cervix dilates (opens) faster.
Expulsion stage
The woman will now be using each contraction to push out her baby. Combined with the force
of the contractions, she will be pushing the baby, contraction by contraction, down into the
vagina and out. She will need to find birthing positions that allow her to push when the next
contraction comes, and then to rest between contractions.
It is often helpful to vary between different birthing positions in this phase of labor. This helps
the baby to rotate and pass downwards in the pelvis. The midwife will help her find birthing
positions that work for her and help labor to progress.
The midwife will tell her how to push when the baby’s head and body are about to be
delivered. She and the midwife will need to work as a team now, so that the birth is as gentle
on the baby as possible, and to prevent tearing. The midwife will support the tissue between
the vagina and anus (perineum) while the baby’s head and body are born.
After birth
After birth is the third stage, at which time the placenta, umbilical cord, and other membranes
are detached and expelled. This final stage is the shortest of the three birth stages, lasting only
minutes.

NEW BORN ASSESSMENT

Each newborn baby is carefully checked at birth for signs of problems or complications. The
healthcare provider will do a complete physical exam that includes every body system.
Throughout the hospital stay, doctors, nurses, and other healthcare providers continually look
at the health of the baby. They are watching for signs of problems or illness. Assessments may
include the below.

APGAR SCALE
The Apgar score is a simple method of quickly assessing the health and vital signs of a newborn
baby. It was created by Dr. Virginia Apgar in 1952.

13
Apgar is a quick test performed on a baby at 1 and 5 minutes after birth. The 1-minute score
determines how well the baby tolerated the birthing process. The 5-minute score tells the
health care provider how well the baby is doing outside the mother's womb. It also helps
measure how well the baby responds if resuscitation is needed right after birth.
Apgar stands for Appearance, Pulse, Grimace, Activity, and Respiration. Medical teams use
this scoring system to make sure babies are healthy right after birth. Each category is score 0,
1, or 2 points, and the total is the Apgar score. A low score ay indicate the baby requires
medical intervention.

• A – APPEARANCE (SKIN COLOR). This is an evaluation of the baby’s skin color. The
medical team measures if the baby is blue or pale all over (0 points), if the body is pink
and the extremities are blue, the infant scores 1 for color. If the entire body is pink, the
infant scores 2 for color.
• P – PULSE (HEART RATE). During this evaluation, the medical team measures the
baby’s heart rate. An absent heart rate scores 0 points. A slow heart rate of less than
100 beats per minute (bpm) scores 1 point. A fast heart rate of more than 100 bpm is
considered normal and scores 2 points.
• G – GRIMACE (REFLEX/IRRITABILITY/RESPONSE). To evaluate this category, the
medical team checks if there is no reaction, the infant scores 0 for reflex irritability. If
there is grimacing, the infant scores 1 for reflex irritability. If there is grimacing and a
cough, sneeze, or vigorous cry, the infant scores 2 for reflex irritability
• A – ACTIVITY (MUSCLE TONE). During this evaluation, the medical team asks if the
baby is limp (0 points), if the baby has some joint movement (1 point), or if the baby
shows active motion (2 points).
• R – RESPIRATION (BREATHING ABILITY). During this step, the medical team asks if the
baby is failing to breathe (0 points), if the baby has a weak cry and slow breathing (1
point), or if the baby is breathing well and crying normally (2 points). A baby that has
trouble breathing may show signs of respiratory distress syndrome (RDS).

➢ Apgar scores of 0-3 are critically low, especially in term and late-preterm infants
➢ Apgar scores of 4-6 are below normal, and indicate that the baby likely requires
medical intervention
➢ Apgar scores of 7+ are considered normal

The lower the Apgar score, the more alert the medical team should be to the possibility of the
baby requiring intervention. For example, a baby with a low score is more likely than a baby
with a high score to need resuscitation (however, it is important to note that in certain cases,
resuscitation must be initiated prior to determining the Apgar score). Some components of
the Apgar score are subjective, and there are cases in which a baby requires urgent medical
treatment despite having a high Apgar score.

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BRASELTON NEONATAL BEHAVIORAL ASSESSMENT SCALE
The Neonatal Behavioral Assessment Scale (NBAS) is an instrument designed to assess the
neurological and behavioral functioning of newborn and very young infant. It assesses the
infants' ability to tune out stimuli, to respond to visual and auditory stimuli, soothability,
motor functioning and reflexes.
In 1973, T. Berry Brazelton and his colleagues published the NBAS as a guide to help parents,
health care providers and researchers understand the behavioral communication of infants
from birth to two months of age. The scale has 28 behavioral and 18 reflex items; these items
do not yield a score, but instead describe multiple developmental areas and describe how the
baby integrates these areas in reaction to environmental stimuli. According to Brazelton,
newborns are faced with a hierarchy of four essential developmental tasks all of which are
surveyed by his scale. The tasks are the regulation of their autonomic systems.
The Four Key Developmental Tasks
The NBAS, developed in the 1970s, assesses the four key _development tasks of the newborn
(birth to two months). The NBAS measures the baby's capability in four main progressive
categories, each of which must be mastered before moving on to the next. In order of priority,
the examiner assesses how well the baby can:
1. Regulate autonomic nervous system (automatic) functions, particularly breathing,
heart rate and temperature regulation.
2. Control the motor (muscular/movement) system for both voluntary movement and
reflexes. It eliminates random movement and targets motor functions to achieve
developmental milestones.
3. Control their 'state' of consciousness - whether waking, crying, or sleeping. For
example, babies who can control their state can ignore extraneous noises and stay
asleep in other words baby being able to manage its response to the environment
while asleep.
4. Interact socially with caregivers and others. Because newborns cannot use language,
they use gazing and other body language to communicate with the people in their
environment. The NBAS measures the baby's ability to develop a social bond with the
caregiver, such as tracking their voice and soothing themselves during times of
distress.
At every point, if the baby struggles with a developmental task, it will not have sufficient
energy to effectively tackle the next, more complex task on the list. This means that a baby
who is struggling to breathe regularly won't be able to control their muscular movements,
transition seamlessly from sleep to waking, or socialise with their parents.
NBAS assumes that neonates communicate with their caregivers, but that this development
happens at different rates. It helps document the newborn's adaptation to life outside the
uterus, documents the development of the social bond between the newborn and its
caregiver, and helps assess neurobehavioral skills. During the test, the examiner will not

15
directly help the newborn, but they do provide the most optimal environment for the
newborn to do their best. The examiner will encourage the newborn in order to assess the
best performance possible. This gives the examiner, and the parents a full picture of the baby's
abilities.

CHROMOSOMAL AND GENE LINKED ABNORMALITIES

Genetic influences on behavior evolved over time and across many species. The many traits
and characteristics that are genetically influenced have a long evolutionary history that is
retained in our DNA. Our DNA is not just inherited from our parents; It includes what we
inherited as a species from other species that were our ancestors. Each of us carries “genetic
code” that we inherited from our parents. Because a fertilised egg carries this human code, a
fertilised human egg cannot grow into an egret, eagle, or elephant.
Each of us began life as a single cell weighing about one twenty-millionth of an ounce! This
tiny piece of matter housed our entire genetic code-information that helps us grow from that
single cell to a person made of trillions of cells, each containing a replica of the original code.
That code is carried by DNA, which includes our genes. What are genes and what do they do?

The nucleus of each human cell contains chromosomes, which are threadlike structures made
up of deoxyribonucleic acid (DNA). DNA is a complex molecule that has a double helix shape,
like a spiral staircase and contains genetic information. Genes, the units of hereditary
information, are short segments of DNA. They help cells to reproduce themselves and to
assemble proteins. Proteins, in turn, are the building blocks of cells as well as the regulators
that direct the body's processes.
Genes are not only collaborative, they are enduring. How do the genes manage to get passed
from generation to generation and end up in all of the trillion cells in the body? Three
processes are at the heart of the story: mitosis, meiosis and fertilisation.
All of the cells in the body, except the sperm and egg, have 46 chromosomes arranged in 23
pairs. These cells reproduce through a process called mitosis. During mitosis, the cell’s nucleus
including the chromosomes – duplicates itself and the cell divides. Two new cells are formed,
each containing the same DNA as the original cell, arranged in the same 23 pairs of
chromosomes. This kind of cell division occurs throughout the body, except in the
reproductive organs. This is the way most of the cells that make up our body are made and
replaced.
Meiosis results in cells with half the number of chromosomes – 23, instead of the normal 46.
This is the type of cell division that occurs in the reproductive organs, resulting in the eggs and
sperm.
During fertilisation, an egg and a sperm fuse to create a single cell called a zygote. In the
zygote, the 23 unpaired chromosomes from the egg and the unpaired chromosomes from the
sperm combine to form one set of 23 paired chromosomes – one chromosome of each pair

16
coming from the mother’s egg and the other from the father’s sperm. In this manner, each
parent contributes half of the offspring’s genetic material.
For a total of 46 chromosomes in each cell, called diploid cells. A normal sperm or egg cell
contains only one half of these pairs and therefore 23 chromosomes. These cells are called
haploid cells. Half of the chromosomes come from our mother, and the other half come from
our father. The first 22 pairs are called autosomes. The 23rd pair consists of the sex
chromosomes, X and Y. Females usually have two X chromosomes, and males usually have
one X and one Y chromosome in each cell. All of the information that the body needs to grow
and develop comes from the chromosomes. Each chromosome contains thousands of genes,
which make proteins that direct the body’s development, growth, and chemical reactions.
A picture, or chromosome map, of all 46 chromosomes is called a karyotype. The karyotype
can help identify abnormalities in the structure or the number of chromosomes.
Chromosomes are the structures that hold genes. Genes are the individual instructions that
tell our bodies how to develop and function; they govern physical and medical characteristics,
such as hair color, blood type and susceptibility to disease.
Many chromosomes have two segments, called "arms," separated by a pinched region known
as the centromere. The shorter arm is called the "p" arm. The longer arm is called the "q" arm.
Chromosomal abnormalities can occur as an accident when the egg or the sperm is formed or
during the early developmental stages of the fetus. The age of the mother and certain
environmental factors may play a role in the occurrence of genetic errors. Prenatal screening
and testing can be performed to examine the chromosomes of the fetus and detect some, but
not all types of chromosomal abnormalities.
There are many types of chromosome abnormalities. However, they can be organised into two
basic groups: numerical abnormalities and structural abnormalities.

Numerical Abnormalities: When an individual is missing one of the chromosomes from a pair,
the condition is called monosomy. When an individual has more than two chromosomes
instead of a pair, the condition is called trisomy.
An example of a condition caused by numerical abnormalities is Down syndrome, which is
marked by mental disability, learning difficulties, a characteristic facial appearance and poor
muscle tone (hypotonia) in infancy. An individual with Down syndrome has three copies of
chromosome 21 rather than two; for that reason, the condition is also known as Trisomy 21.
An example of monosomy, in which an individual lacks a chromosome, is Turner syndrome. In
Turner syndrome, a female is born with only one sex chromosome, an X, and is usually shorter
than average and unable to have children, among other difficulties.
Structural Abnormalities: A chromosome's structure can be altered in several ways.
Most chromosome abnormalities occur as an accident in the egg or sperm. In these cases, the
abnormality is present in every cell of the body. Some abnormalities, however, happen after
conception; then some cells have the abnormality and some do not.

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Chromosome abnormalities can be inherited from a parent (such as a translocation) or be "de
novo" (new to the individual). This is why, when a child is found to have an abnormality,
chromosome studies are often performed on the parents.

Chromosome abnormalities usually occur when there is an error in cell division. Due to the
two kinds of cell division, mitosis and meiosis. In both processes, the correct number of
chromosomes is supposed to end up in the resulting cells. However, errors in cell division can
result in cells with too few or too many copies of a chromosome. Errors can also occur when
the chromosomes are being duplicated.
Other factors that can increase the risk of chromosome abnormalities are:
Maternal Age: Women are born with all the eggs they will ever have. Some researchers believe
that errors can crop up in the eggs' genetic material as they age. Older women are at higher
risk of giving birth to babies with chromosome abnormalities than younger women. Because
men produce new sperm throughout their lives, paternal age does not increase risk of
chromosome abnormalities.
Environment: Although there is no conclusive evidence that specific environmental factors
cause chromosome abnormalities, it is still possible that the environment may play a role in
the occurrence of genetic errors.

CHROMOSOMAL ABNORMALITIES – DOWN SYNDROME

Down syndrome (also called Trisomy 21) is a genetic condition caused by an error in the
process that replicates and then divides up the pairs of chromosomes during cell division,
resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent.
This extra chromosomal DNA causes the intellectual disabilities and physical features
characteristic of Down syndrome, which vary among individuals.

It is not known why the extra chromosome is present, but the health of the male sperm or the
female ovum maybe involved. An individual with Down syndrome has a round face, a flattened
skull, an extra fold of skin over the eyelids, a protruding tongue, short limbs, and impaired
motor and mental abilities. Down syndrome appears approximately once in every 700 live
births. Women between the ages of 16 and 34 are less likely to give birth to a child with down
syndrome than are younger or older women.

Down syndrome, trisomy 21. Like all individuals with disabilities, individuals with Down
syndrome lead full, autonomous, and enriching lives. From infancy, childhood, adolescence,

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adulthood, and old age, these individuals have many if not most of the same experiences as
everyone else. Individuals with Down syndrome, like most people at some point in their lives,
may need assistance with certain tasks. They may also have certain health challenges, being
more at risk than the typical individual for certain health conditions, all of which are treatable.
These individuals are cherished members of each of their communities, going to college, living
independently, owning businesses, getting married, and living their lives as they so choose.

ABNORMALITIES OF THE SEX CHROMOSOMES – KLINEFELTER SYNDROME

Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome.
The most common symptom is infertility.
Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these
chromosomes, the sex chromosomes, determine a person's gender. Both of the sex
chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X
and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility
and the sexual characteristics of their gender.
Most often, Klinefelter syndrome is the result of one extra X (written as XXY). In this variation,
some of the cells in the male's body have an additional X chromosome, and the rest have the
normal XY chromosome count.
Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. The
additional sex chromosome results from a random error during the formation of the egg or
sperm. About half of the time the error occurs in the formation of sperm, while the remainder
are due to errors in egg development. Women who have pregnancies after age 35 have a
slightly increased chance of having a boy with this syndrome.
Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a
small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall
stature, and abnormal body proportions (long legs, short trunk). Only 10 percent of individuals
with Klinefelter syndrome are diagnosed before puberty, with the majority not identified until
adulthood.
School-age children may be diagnosed if they are referred to a doctor to evaluate learning
disabilities. The diagnosis may also be considered in the adolescent male when puberty is not
progressing as expected. Adult males may come to the doctor because of infertility.

FRAGILE X SYNDROME

Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene
where a DNA segment, known as the CGG triplet repeat, is expanded. Normally, this DNA
segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however,
the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment
inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called

19
fragile X mental disability protein. Loss of this protein leads to the signs and symptoms of
fragile X syndrome. Fragile X syndrome is caused by a change to a gene on the X-chromosome
called the FMR1 gene. This gene produces a protein that helps the brain to function normally.
If this gene is changed or altered in any way, it cannot produce its normal protein, which can
result in Fragile X syndrome. Both boys and girls can be affected, but because boys have only
one X chromosome, a single fragile X is likely to affect them more severely.
A boy who has the full FMR1 mutation has fragile X syndrome and will have moderate
intellectual disability. They have a particular facial appearance, characterised by a large head
size, a long face, prominent forehead and chin and protruding ears. In addition males who
have fragile X syndrome have loose joints (joint laxity), and large testes (after puberty).
Affected boys may have behavioral problems such as hyperactivity, hand flapping, hand biting,
temper tantrums and autism. Other behaviors in boys after they have reached puberty include
poor eye contact, perseverative speech, problems in impulse control and distractibility.
Physical problems that have been seen include eye, orthopedic, heart and skin problems.
Girls who have the full FMR1 mutation have mild intellectual disability. Family members who
have fewer repeats in the FMR1 gene may not have intellectual disability, but may have other
problems. Women with less severe changes may have premature menopause or difficulty
becoming pregnant. Both men and women may have problems with tremors and poor
coordination.

TURNER’S SYNDROME
Turner syndrome is a chromosomal condition that alters development in females. Women
with this condition tend to be shorter than average and are usually unable to conceive a child
(infertile) because of an absence of ovarian function. Other features of this condition that can
vary among women who have Turner syndrome include: extra skin on the neck (webbed neck),
puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart
defects and kidney problems.
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common
among pregnancies that do not survive to term (miscarriages and stillbirths). Turner syndrome
is a chromosomal condition related to the X chromosome.
Researchers have not yet determined which genes on the X chromosome are responsible for
most signs and symptoms of Turner syndrome. They have, however, identified one gene called
SHOX that is important for bone development and growth. Missing one copy of this gene likely
causes short stature and skeletal abnormalities in women with Turner syndrome.
Girls who have Turner syndrome are shorter than average. They often have normal height for
the first three years of life, but then have a slow growth rate. At puberty they do not have the
usual growth spurt.

Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries
begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen

20
in most girls who have Turner syndrome. They do not start their periods or develop breasts
without hormone treatment at the age of puberty.
Even though many women who have Turner have non-functioning ovaries and are infertile,
their vagina and womb are totally normal.
In early childhood, girls who have Turner syndrome may have frequent middle ear infections.
Recurrent infections can lead to hearing loss in some cases.
Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and
reading skills. Some girls, however, have problems with math, memory skills and fine-finger
movements.

XXX

Triple X syndrome is a genetic condition where a person is born with an extra X chromosome.
Many people with triple X syndrome may have no symptoms and may not know they have the
condition, or their symptoms could include being unusually tall and fertility issues.
Triple X syndrome is a rare genetic condition that affects only people assigned female at birth
(AFAB). It’s also called trisomy X syndrome or 47,XXX.

People are usually born with 46 chromosomes arranged in 23 pairs. (Chromosomes are the
structures that carry the genetic information.) One copy of each chromosome in the pair
comes from the egg, and the other copy in the pair comes from the sperm.
There’s a lot of variation among people with triple X syndrome. One may not experience any
symptoms, or their symptoms might be so mild that they don’t notice them. Or they may have
certain physical characteristics — or neurological (brain-related) or medical conditions —
associated with triple X syndrome.
Physical characteristics
If a person has trisomy X, one may not notice any symptoms. Or they might be taller than their
peers. They’re also often taller than pediatricians predicted based on their parents’ heights.
They might have difficulty getting pregnant or have early menopause, but many people with
this condition don’t. Other, more subtle physical attributes include:
• Wide-spaced eyes (hypertelorism).
• Vertical skin folds that cover the inner corners of the eyes (epicanthal folds).
• Curved or bent little fingers (clinodactyly).
• Poor muscle tone (hypotonia).

Neurological conditions
Some people with triple X syndrome have developmental delays or mental health conditions.
These may include:
• Developmental delays.
• Learning disabilities.
• Attention Deficit Hyperactivity Disorder.

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 • Mood disorders like anxiety and depression.
• Mild cognitive impairment.

Other medical conditions

Rarely, some people with triple X syndrome may develop:
• Autoimmune conditions.
• Differences in heart structure.
• Frequent urinary tract infections.
• Kidney abnormalities.
• Premature ovarian aging or failure.
• Seizures.

XYY
XYY syndrome; also called as superman syndrome or 47XYY is a rare chromosomal disorder
that affects males. It is caused by the presence of an extra Y chromosome. The normal male
sex chromosomes are XY; in the case of Superman syndrome, males possess one additional Y
chromosome in addition to the paternally inherited Y chromosome. The term ‘superman’
refers to the presence of the additional male-defining Y chromosome. Affected individuals are
usually very tall. Many experience severe acne during adolescence. Additional symptoms may
include learning disabilities and behavioral problems such as impulsivity. Intelligence is usually
in the normal range, although IQ is on average 10-15 points lower than siblings.
In the past, there were many misconceptions about this disease. It was sometimes called the
super-male disease because men with this syndrome were thought to be overly-aggressive
and lacking in empathy. Recent studies have shown that this is not the case. Although
individuals with XYY syndrome have an increased risk for learning disabilities and behavioral
problems, they are not overly aggressive, nor are they at an increased risk of any serious
mental illness. Because these boys are at a higher risk for having learning disabilities, they may
benefit from speech therapy, tutoring, and general awareness of the specific issues they
struggle with. Although the first years of school may be more challenging for boys with XYY
syndrome, they generally go on to lead full, healthy, and normal lives.

GENE LINKED ABNORMALITIES

Abnormalities can be produced not only by an abnormal number of chromosomes, but also
by harmful genes. Genes are part of the body’s cells that store instructions for the way our
body grows and works. Genes are passed from parents to children. Each person has more than
20,000 genes. These genes make us the way we are — they help control things like height, the
curliness of the hair and the color of the eyes.
Sometimes the instructions that are stored in a gene change. This is called a gene change or a
mutation. A gene can change on its own, or it can be passed from parents to children.

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A gene change can sometimes cause health conditions, like cystic fibrosis and sickle cell
disease. A gene change also can cause birth defects, like heart defects. Birth defects are
structural changes present at birth that can affect almost any part of the body. They may affect
how the body looks, works or both. Birth defects can cause problems in overall health, how
the body develops or how the body works.
Genetic disorders are due to alterations or abnormalities in the genome of an organism. A
genetic disorder may be caused by a mutation in a single gene or multiple genes. It can also
be due to changes in the number or structure of chromosomes. Chromosomes are the
structures that hold genes.
Genes are the basic unit of heredity. They hold the genetic information in the form of DNA
which can be translated into useful proteins to carry out life processes. These genes undergo
a mutation sometimes, which changes the instructions to formulate the protein, due to which
the protein does not work properly. Such disorders are known as genetic disorders.
Some genetic disorders are innate, i.e., present by birth, while others are acquired due to
mutations in a particular gene. The genetic disorders that are present by birth are inherited
from parents, e.g. cystic fibrosis, hemophilia, sickle cell anemia, etc. The genetic disorders that
are acquired during the lifetime are not inherited from parents, these occur due to mutations
that occur randomly or due to exposure to certain chemicals, environments or radiations such
as cigarette smoke, UV radiations, etc. Cancer is one such disease.
The genetic disorders can be categorised into two types, namely Mendelian Disorders, i.e., a
disorder in a single gene that follows Mendelian inheritance pattern, and Chromosomal
Disorders, i.e., damage or alteration in the chromosomes structure or number, the
chromosomes are either missing, duplicated or a part is translocated.

PKU
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels
of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an
amino acid) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and
in some artificial sweeteners. Individual here cannot metabolise phenylalanine, an amino acid.
If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing
intellectual disability, hyperactivity and other serious health problems.
The signs and symptoms of PKU vary from mild to severe. The most severe form of this
disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few
months old. Without treatment, these children develop permanent intellectual disability.
Seizures, delayed development, behavioral problems, and psychiatric disorders are also
common. Untreated individuals may have a musty odor in urine, breath and skin as a side
effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin
and hair than unaffected family members and are also likely to have skin disorders such as
eczema.

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Less severe forms of this condition, sometimes called variant PKU and non-PKU
hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may
not require treatment.

PKU can often be managed by following a diet that is low in phenylalanine. Since
phenylalanine is found in all proteins, the PKU diet consists of avoiding meat, dairy, nuts, tofu,
and other foods that are high in protein. Infants with PKU need to be fed with a low-protein
formula. Affected individuals are often limited to certain fruits and vegetables and foods
containing fats and sugars (such as butter, jelly, pasta, and potato chips). The artificial sweeter
aspartame, which is found in diet soda and many other low-calorie items, should be avoided
as it contains high amounts of phenylalanine. The amount of phenylalanine that is safe to
consume is different for each person. Affected individuals should work with a health care
professional to develop an individualized diet.
Babies born to mothers who have PKU and are not following a low-phenylalanine diet have a
significant risk of intellectual disability because they are exposed to very high levels of
phenylalanine before birth. These infants may also have a low birth weight and grow more
slowly than other children. They may also have heart defects or other heart problems, an
abnormally small head size (microcephaly), and behavioral problems. Women with PKU who
are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also
have higher risk of pregnancy loss.
Today, phenylketonuria is easily detected during infancy, and it is treated by a diet that
prevents an excess accumulation of phenylalanine. The story of phenylketonuria has
important implications for the nature-nurture issue. Although phenylketonuria is often
described as a genetic disorder [nature], how or whether a gene's influence in
phenylketonuria is played out depends on environmental influences, since the disorder can
be treated [nurture] using an environmental manipulation. That is, the presence of a genetic
defect does not inevitably lead to the development of the disorder if the individual develops
in the right environment [free of Phenylalanine]. This is one example of the important
principle of heredity-environment interaction. Under one environmental condition
[phenylalanine in the diet], intellectual disability results, but when other nutrients replace
phenylalanine, intelligence develop in the normal range. The same genotype has different
outcomes depending on the environment, [in this case, the nutritional environment].

SICKLE CELL ANEMIA

Sickle cell disease is a group of inherited red blood cell disorders that affect hemoglobin, the
protein that carries oxygen through the body. Normally, red blood cells are disc-shaped or are
round and flexible. They are flexible enough to move easily through the blood vessels. This
allows them to move easily through small blood vessels (capillaries) in the body to deliver
oxygen to the organs and tissues. In SCD, there’s an abnormal form of hemoglobin called
hemoglobin S. This changes the shape of the red blood cell to a crescent shape and causes red
blood cells to become rigid, lack flexibility and stick together. This can block blood flow,
preventing oxygen from getting to the vital organs and tissues throughout the body. It can lead

24
to serious complications including pain, infections, and organ damage and failure.
Additionally, sickle-shaped cells don’t last as long as normal-shaped red blood cells, causing a
constant shortage of red blood cells and leading to anemia. Sickle cell disease is a lifelong
condition. But there are treatment options that can reduce the symptoms and prolong the
life.
The blocked blood flow through the body can lead to serious problems, including stroke, eye
problems, infections, and episodes of pain called pain crises.

Signs and symptoms of sickle cell disease can be mild or severe enough to require frequent
hospitalisations. They may include:

• Anemia (looking pale)

• Dark urine
• Yellow eyes
• Painful swelling of hands and feet
• Frequent pain episodes
• Stunted growth
• Stroke

There are no standard treatments that cure sickle cell disease. However, there are treatments
that help people manage and live with the disease. Treatment relieves pain, prevents
infections, minimises organ damage, and controls complications and can include medications,
such as pain relievers and hydroxyurea (Hydrea), at times blood transfusions, and other
options as needed.

TAY SACHS DISEASE.

Tay-Sachs disease is a rare genetic disorder passed from parents to child. It's caused by the
absence of an enzyme that helps break down fatty substances. Enzymes are proteins that
control chemical reactions in the body. Without this enzyme, called hexosaminidase, fatty
proteins build up in the brain and lead to damage in the brain and spinal cord and affect the
function of the nerve cells.
In the most common and severe form of Tay-Sachs disease, signs and symptoms start to show
up at about 3 to 6 months of age. As the disease progresses, development slows and muscles
begin to weaken. Over time, this leads to seizures, vision and hearing loss, paralysis, and other
major issues. Children with this form of Tay-Sachs disease typically live only a few years.
Less commonly, some children have the juvenile form of Tay-Sachs disease and may live into
their teen years. Rarely, some adults have a late-onset form of Tay-Sachs disease which is often
less severe than forms that begin in childhood. There are three forms of Tay-Sachs disease:
infantile, juvenile and late onset/adult.
Infantile form

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In the most common and severe form, called infantile form, an infant typically begins showing
signs and symptoms by about 3 to 6 months of age. Survival is usually only a few years. Signs
and symptoms can include:
• Exaggerated startle response when the baby hears loud noises
• "Cherry-red" spots in the eyes
• Loss of motor skills, including turning over, crawling and sitting up
• Muscle weakness, progressing to paralysis
• Movement problems
• Seizures
• Vision loss and blindness
• Hearing loss and deafness
• Problems swallowing
• Loss of mental functions and a lack of response to surroundings
• Growth in head size (progressive macrocephaly)
Juvenile form
The juvenile form of Tay-Sachs disease is less common. Signs and symptoms vary in severity
and begin in childhood. Survival is typically into the teen years. Signs and symptoms can
include:
• Behavior problems
• Gradual loss of skills and movement control
• Frequent respiratory infections
• Slow loss of vision and speech
• Decline in mental function and responsiveness
• Seizures

Last onset/adult form

This is a rare and less severe form with signs and symptoms beginning in late childhood to
adulthood. Severity of symptoms varies greatly, and this form does not always impact life
expectancy. Signs and symptoms progress slowly and can include:
• Muscle weakness
• Clumsiness and loss of coordination
• Tremors and muscle spasms
• Loss of the ability to walk
• Problems speaking and swallowing
• Psychiatric disorders
• Sometimes loss of mental function

GENETIC COUNSELING
Genetic counseling is a way for people to understand how genetic illnesses can affect them
and their family. Genetic illnesses (also called genetic disorders) are caused by changes in
genes.

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People might see a genetic counselor for many reasons. Someone with a higher risk of having
a child with a genetic illness might get genetic counseling. This includes:
• People who have close relatives with genetic illnesses.
• Parents who already have a child with a genetic illness.
• Pregnant women over age 34 or those who have an abnormal prenatal screening test
or amniocentesis.
• Women who have had two or more miscarriages, or delivered a stillborn baby that had
physical signs of a genetic disorder.
Someone also might see a genetic counselor to:
• Get testing for themselves, a child, or an unborn baby.
• Learn if they carry a gene for a genetic illness.
• See how likely they are to pass a genetic illness to their child.
• Guide treatment plans for some types of illnesses (for example, to see if a medicine
will work better than another).

Genetic counseling is a communication process by which personal genetic risk information is

translated into practical information for families. Genetic counselors are health care
professionals with specialised training and experience in the areas of medical genetics and
counseling. Genetic counselors are able to assist individuals and families by:

POSTPARTUM PERIOD:
The postpartum period is defined as the stage which begins when the placenta is removed. It
lasts until the uterus and the rest of the reproductive system recovers after childbirth, or until
the woman starts to menstruate again.
The postpartum period begins soon after the delivery of the baby and usually lasts six to eight
weeks and ends when the mother’s body has nearly returned to its pre-pregnant state. The
postpartum period for a woman and her newborn is very important for both short-term and
long-term health and well-being.

The weeks following birth lay the foundation of long-term health and well-being for both the
woman and her infant. Therefore, it is critical to establish a reliable postpartum (afterbirth)
period that should be tailored into on-going, continuous, comprehensive care. Most maternal
and infant deaths occur in the first month after birth. Hence effective postpartum care is
mandatory to improve both short-term and long-term health consequences of mother and
newborn.
It is the time after birth, a time in which the mother's body, including hormone levels and
uterus size, returns to a non-pregnant state. Lochia is post-partum vaginal discharge,
containing blood, mucus, and placental tissue.
Newborns. Upon its entry to the air-breathing world, without the nutrition and oxygenation
from the umbilical cord, the newborn must begin to adjust to life outside the uterus. Also

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starts his/her adaptation to extrauterine life, the most significant physiological transition until
death.
The weeks after childbirth present challenges for many new parents and their offspring. This
is the postpartum period, the period after childbirth or delivery that last for about six weeks
or until the mother's body has completed its adjustment and has returned to a nearly
prepregnancy state. It is a time when the woman adjusts both physically and psychologically,
to the process of child bearing. The postpartum period involves a great deal of adjustment
and adaptation. The adjustments needed are physical emotional and psychological.

PHYSICAL ADJUSTMENTS
The mother is assessed for tears, and is sutured if necessary. Also, she may suffer from
constipation or hemorrhoids, both of which would be managed. The bladder is also assessed
for infection, retention, and any problems in the muscles.
The major focus of postpartum care is ensuring that the mother is healthy and capable of
taking care of her newborn, equipped with all the information she needs about breastfeeding,
reproductive health and contraception, and the imminent life adjustment. In some cases, this
adjustment is not made easily, and women may suffer from postpartum depression,
posttraumatic stress disorder or even puerperal psychosis.
A woman's body makes numerous physical adjustments in the first days and weeks after
childbirth. She may have a great deal of energy or feel exhausted and let down. Though these
changes are normal the new mothers sense of wellbeing and confidence in her ability to cope
with a new baby and a new family life.
A concern is the loss of sleep that the primary caregiver experiences in the postpartum period.
The loss of sleep can contribute to stress, marital conflict and impaired decision making. In a
recent study, worsening or minimal improvement in sleep problems from 6 weeks to 7 months
postpartum where associated with an increase and depressive symptoms.
After delivery, a mother's body undergoes sudden and dramatic changes in hormone
production. When the Placenta is delivered, estrogen and progesterone levels drop steeply
and remain low until the ovaries start producing hormones again.

EMOTIONAL AND PSYCHOLOGICAL

Emotional fluctuations are common for mothers in postpartum period. For some women,
emotional fluctuations decrease within several weeks after the delivery, but other women
experience more long lasting emotional swings. About two to three days after birth, they
begin to feel depressed, anxious, and upset. These feelings may come and go for several
months after the birth, often peaking about three to five days after birth. Even without
treatment, these feelings usually go away after one or two weeks.

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However, some women develop postpartum depression, which involves a major depressive
episode that typically occurs about four weeks after delivery. Women with postpartum
depression have such strong feelings of sadness, anxiety or despair that for at least a two week
period they have trouble coping with their daily tasks. Without treatment, postpartum
depression may become worse and last for many months. And many women with postpartum
depression don’t seek help.
Following are the risk factors for developing postpartum depression:

• A history of depression,
• Depression and anxiety during pregnancy,
• Neuroticism,
• Low self-esteem,
• Postpartum blues,
• Poor marital relationship, and
• A low level of social support
Women who had a history of depression were 20 times more likely to develop postpartum
depression than women who had no history of depression. Several antidepressant drugs are
effective in treating postpartum depression and appear to be safe for breast-feeding women.
Psychotherapy, especially cognitive therapy, is effective in easing postpartum depression for
many women. Also, engaging in regular exercise may help in treating postpartum depression.
For example, a recent meta-analysis concluded that physical exercise during the postpartum
period is a safe strategy to reduce postpartum depressive symptoms.
A mother's postpartum depression can affect the way she interacts with her infant. The
interaction difficulties of depressed mothers and their infants occur across cultures and
socioeconomic status groups, and encompass less sensitivity of the mothers and less
responsiveness on the part of their infants. Several caregiving activities also are compromised,
including feeding (especially breast feeding), sleep routines, and safety practices. In a recent
study, postpartum depression was associated with an increase in 4-month-old infants'
unintentional injuries. Further, a recent study revealed that mothers' postpartum depression,
but not generalised anxiety, were linked to their children's emotional negativity and behavior
problems at 2 years of age.
Fathers also undergo considerable adjustment in the postpartum period, even when they
work away from home all day. When the mother develops postpartum depression, many
fathers also experience feelings of depression. Many fathers feel that the baby comes first and
gets all of the mother's attention: some feel that they have been replaced by the baby.
The father's support and caring can play a role in whether the mother develops postpartum
depression. One study revealed that higher support by fathers was related to a lower
incidence of postpartum depression in women. Also, a recent study found that depressive
symptoms in both the mother and father were associated with impaired bonding with their
infant during postpartum period.

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Psychological postpartum is a psycho-emotional process which every mother must go through
in order to rediscover herself, grow, and become emotionally attuned to her baby. The woman
who has just given birth must get used to a new phase in her life. While she’s no longer
pregnant, she’s also no longer the same woman she was before.
There are a lot of psychological aspects surrounding this stage, which are sometimes
overlooked or unfamiliar. Some refer to the psychological postpartum as its own phase. Every
woman’s social and family situation is different, and every woman has different emotional
skills to deal with them.
Thus, the psychological postpartum (or the psychological aspects of the postpartum period)
doesn’t have a set duration. Generally, however, this adaptation process can last from one to
two years. During this period women can experience:

Postpartum depression-PPD is a form of clinical depression which can affect women, and less
frequently men, after childbirth, in the postnatal period.
Baby or maternity blues are a mild and transitory moodiness suffered by up to 80% of
postnatal women (and in some cases fathers who also suffer from the baby blues and/or
postpartum depression). Symptoms typically last from a few hours to several days, and include
tearfulness, irritability, hypochondriasis, sleeplessness, impairment of concentration, isolation
and headache. The maternity blues are not the same thing as postpartum depression, nor are
they a precursor to postpartum depression or postnatal psychosis.
Symptoms
Symptoms of PPD can occur anytime in the first year postpartum[1] and include, but are not
limited to, the following:
• Sadness
• Hopelessness
• Low self-esteem
• Guilt
• Sleep disturbances
• Eating disturbances
• Inability to be comforted
• Exhaustion
• Emptiness
• Inability to enjoy things one previously enjoyed
• Social withdrawal
• Low energy
• Easily frustrated
• Feeling inadequate in taking care of the baby (or feeling like one cannot take care of
the baby).

BONDING

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A special component of the parent-infant relationship is bonding, the formation of a
connection, especially a physical bond between parents and the newborn in the period shortly
after birth. Sometimes hospitals seem determined to deter bonding. Drugs given to the
mother to make her delivery less painful can make the mother drowsy, interfering with her
ability to respond to and stimulate the newborn. Mothers and newborns are often separated
shortly after delivery, and preterm infants are isolated from their mothers even more than
full-term infants.

Some physicians believe that during the period shortly after birth, the parents and newborn
need to form an emotional attachment as a foundation for optimal development in years to
come. The extreme form of the bonding hypothesis-that the newborn must have close contact
with the mother in the first few days of life to develop optimally-simply is not true.

Nonetheless, the weakness of the bonding hypothesis should not be used as an excuse to
keep motivated mothers from interacting with their newborns. Such contact brings pleasure
to many mothers. In some mother-infant pairs-including preterm infants, adolescent mothers
and mothers from disadvantaged circumstances-early close contact may establish a climate
for improved interaction after the mother and infant leave the hospital.

Many hospitals now offer a rooming-in arrangement, in which the baby remains in the
mother's room most of the time during its hospital stay. However, if parents choose not to use
this rooming-in arrangement, the weight of the research suggests that this decision will not
harm the infant emotionally.

Having a baby changes a woman‘s life, routine, and of course, her body. Her body drastically
changes and this is reflected by a sea of raging hormones which cause an excess of emotional
sensitivity.
This can manifest as mood swings or intense expression of anger, sadness, happiness, etc.
These psychological aspects of the postpartum period, rather than being a problem, are a
necessity. During this period, all of the senses will be heightened in order for a mother to get
to know her baby and his emotions, so as to better meet his needs.
There is no other time in life in which a being will depend on a mother this much, than the
child’s first year of life. This can be truly exhausting, especially with an aching body from
childbirth.
A baby has several needs that must be met 24 hours a day. This often means a mother has to
set aside her own needs, especially eating and sleeping.
Getting in sync with the baby and getting to know him well will take time. Learning to decipher
his cries and knowing when to feed him or how to put him to sleep will be challenges a mother
has to face. It’s a bonding process that requires time and concentration from the both.
At the same time, life goes on and domestic chores still have to be done. Visitors will arrive, and the
mother might have to care for older children or return to work.

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That’s why it’s understandable that most women experience feelings of sadness like the baby blues
or feel psychologically overwhelmed.

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