RESEARCH REVIEW

Prenatal Diagnosis of Down Syndrome: How Best to

Deliver the News
Brian G. Skotko,1* Priya S. Kishnani,2 George T. Capone3
for the Down Syndrome Diagnosis Study Group
1
Division of Genetics, Department of Medicine, Childrens Hospital Boston, Boston, Massachusetts
2
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina
3
Division of Neurology & Developmental Medicine, Department of Pediatrics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions,
Baltimore, Maryland

Received 21 June 2009; Accepted 4 August 2009

We sought to provide evidence-based recommendations to

physicians on how to best deliver a prenatal diagnosis of DS to How to Cite this Article:
expectant parents. Our study design consisted of searching Skotko BG, Kishnani PS, Capone GT for the
Medline and PsychInfo from 1960 to 2008, as well as Web sites Down Syndrome Diagnosis Study Group.
from academic organizations and other nonprofit or private 2009. Prenatal diagnosis of Down syndrome:
organizations, using the terms Down syndrome, Trisomy How best to deliver the news.
21, mongolism, prenatal diagnosis, postnatal care, and
Am J Med Genet Part A 149A:23612367.
delivery of health care. Our results showed that a health care
professional knowledgeable about DS with specific training in
the delivery of sensitive diagnoses should be part of the first
conversation. A prenatal diagnosis of DS should be presented in screen, and integrated screenwhich can provide between 69%
person or at a pre-established time by phone. Physicians should and 96% detection rates for DS, using a 5% false positive screen rate
provide accurate information about medical conditions associ- with cut-off risk ratios around 1:270 [ACOG Committee on
ated with DS and connect parents to local DS support groups and Practice Bulletins, 2007]. DS, however, can only be definitively
other resources. We conclude that physicians can deliver prena- diagnosed by karyotyping or chromosome analysis using chorionic
tal diagnoses of DS in a sensitive manner that can be appreciated villus sampling (CVS) in the first trimester or amniocentesis in the
by expectant parents. 2009 Wiley-Liss, Inc. second or third trimester, with no statistical increase in procedure-
related fetal loss rate now being reported at some centers [Odibo
Key words: delivery of health care; Down syndrome; prenatal et al., 2008]. In the near future, noninvasive serum testing involving
diagnosis; postnatal care; mongolism; Trisomy 21 cell-free fetal DNA or RNA might also provide a definitive diagnosis
of DS in the first trimester at no risk to the fetus [Lo et al., 2007; Fan
et al., 2008; Lo and Chiu, 2008; Puszyk et al., 2008].
Yet, with these new guidelines and scientific tests comes a central
INTRODUCTION question: Are todays physicians adequately trained in explaining a
Delivering a prenatal diagnosis of Down syndrome (DS) to expec- prenatal diagnosis of DS to expectant parents? In a survey con-
tant parents is a challenging medical encounter for even the most ducted in 2005 of 2,500 medical school deans, students, and
seasoned physicians. Traditionally, formal training on how to residency directors, 81% of medical students report that they
deliver a diagnosis has been limited to genetic counselors or are not getting any clinical training regarding individuals with
geneticists, but as more prenatal testing options become available, intellectual disabilities, and 58% of medical school deans say such
obstetricians will increasingly find themselves in need of this training is not a high priority [Special Olympics, 2007]. In a
education. Recently, the American College of Obstetrics and Gy-
necology (ACOG) and the American College of Medical Genetics The members of the Down Syndrome Diagnosis Study Group are listed in
(ACMG) recommended that all pregnant women, regardless of age, the Appendix.
Grant sponsor: National Down Syndrome Society (NDSS).
be offered prenatal screening and diagnostic testing for DS by their
*Correspondence to:
obstetrician [ACOG Committee on Practice Bulletins, 2007; Amer- Brian G. Skotko, M.D., M.P.P., Childrens Hospital Boston, 300 Longwood
ican College of Obstetricians and Gynecologists, 2007; Driscoll Ave., Boston, MA 02115. E-mail: [email protected]
et al., 2008]. Published online 28 September 2009 in Wiley InterScience
A menu of prenatal screening tests existsthe triple screen, (www.interscience.wiley.com)
quadruple screen, first-trimester combined screen, sequential DOI 10.1002/ajmg.a.33082

2009 Wiley-Liss, Inc. 2361

2362 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

questionnaire completed by 532 ACOG fellows and junior fellows unbiased and comprehensive as possible, we chose to review a wide
in 2004, 45% rated their training regarding prenatal diagnosis range of study designs, selecting to analyze, on a consistent basis, the
as barely adequate or nonexistent, and only 28% felt well titles and abstracts of the articles that appeared to answer one or
qualified in general prenatal genetic counseling [Cleary-Goldman more of our research questions, established a priori: (1) Who is the
et al., 2006]. A survey of 507 ACOG fellows and junior fellows best person to communicate the news? (2) When is the best time to
conducted 4 years later found little changeapproximately 40% share the news? (3) Where is the best place or setting to deliver the
thought their training was less than adequate, and only 36% felt news? (4) What information should be delivered? (5) How should
well qualified in counseling an expectant mother whose prenatal the news be communicated? Our research questions for the post-
screen suggests a high chance for Down syndrome [Driscoll et al., natal period are reported elsewhere [Skotko et al., in press].
2009]. Not surprising, then, is the fact that todays obstetricians After independently reading, in full, all of the articles meeting the
have been deemed incomplete and inaccurate in delivering a initial criteria, the primary authors discussed and then eliminated
diagnosis by mothers who had children with DS diagnosed prena- those articles that (1) did not answer any of the research questions
tally [Skotko, 2005]. Further, in anonymous surveys completed by established a priori, (2) did not have results that were specific to DS,
499 physicians who deliver prenatal diagnoses, only 63% of them (3) contained only duplicative and not original data, (4) contained
tried to be as unbiased as possible when delivering a prenatal only opinion based on clinical or personal experience, or (5) had a
diagnosis. Thirteen percent reported that they emphasize the participant pool <10 persons. No discordant opinion among the
negative aspects of DS so that parents would favor a termination; authors occurred with this criteria. In total, we identified five
10% actively urge parents to terminate; 10% emphasize the articles, with a composite sample size of 232 parents who had
positive aspects of DS so that parents favor continuation; and 4% received a definitive prenatal diagnosis of Down syndrome and 70
actively urge parents to continue the pregnancy [Wertz, 2000]. professionals who participated in delivering such a diagnosis [Helm
The primary goal of this report is to review the current evidence et al., 1998; Williams et al., 2002; Tymstra et al., 2004; Skotko, 2005;
on how physicians should best deliver a prenatal diagnosis of DS to Korenromp et al., 2007]. These studies came from a variety of
expectant parents. As DS remains the most common chromosomal countries from 1998 to 2007. Four of the five articles surveyed
condition, occurring in 1 out of every 733 live births [Canfield et al., mothers who chose to continue their pregnancies after receiving a
2006], with the average life expectancy now approaching 55 years, definitive prenatal diagnosis of DS for their fetus; one article
nearly every obstetrician can expect to have a conversation with questioned mothers who chose to terminate a pregnancy after
expectant parents about the realities of life with DS. We seek to receiving a definitive prenatal diagnosis of DS (Table I). All studies
provide todays obstetricians with evidence-based recommenda- meeting final criteria were evaluated for quality by 1996 USPSTF
tions based on the current body of published literature on how to guidelines [Agency for Healthcare Research and Quality, 2008].
approach these sensitive encounters. Levels of evidence are indicated in Table I.

MATERIALS AND METHODS RESULTS

Sources Who Is the Best Person to Communicate the News?
We searched online databases including Medline and PsychInfo for Pregnant women first learn about a prenatal diagnosis of DS from a
all studies published in English from 1960 through February, 2008, variety of people: genetic counselors [Skotko, 2005], midwives
using the National Library of Medicine Medical Subject Headings [Williams et al., 2002], nurses [Helm et al., 1998], pediatricians
terms: Down syndrome, Trisomy 21, mongolism, prenatal and pediatric subspecialists [Williams et al., 2002], and obstetri-
diagnosis, postnatal care, and delivery of health care. To cians [Williams et al., 2002; Skotko, 2005]. Over time, pregnant
ensure completeness of the literature search, we reviewed reference women have consistently preferred to receive the news from the
lists and articles from the authors libraries. We supplemented the health care professional that is most knowledgeable about DS
primary literature search by searching the Web sites of following [Williams et al., 2002; Skotko, 2005]. However, this is not always
entities: Google Scholars, American Academy of Pediatrics (AAP), the obstetrician, so collaboration among health care professionals is
ACOG, ACMG, the National Newborn Screening and Genetics essential. A study of 141 women who had received a prenatal
Resource Center, the National Down Syndrome Society, the Na- diagnosis of DS cautions that if obstetricians rely on genetic
tional Down Syndrome Congress, March of Dimes, National counselors or other specialists to convey DS, sensitive, accurate,
Federation of Voluntary Bodies, International Mosaic Down Syn- and consistent messages must be conveyed [Skotko, 2005].
drome Association, Down Syndrome Educational Trust, Canadian
Down Syndrome Society, UK Down Syndrome Association. Addi-
tional studies were located by reviewing references of previously
When Is the Best Time to Share the News?
identified articles. We excluded unpublished data or studies that In general, pregnant women who choose to undergo definitive
were not submitted to peer-reviewed journals. testing prefer to receive the diagnosis as soon as possible in the
company of their husbands or partners [Skotko, 2005; Helm et al.,
1998]. In a survey of 141 women who had received a prenatal
Study Selection diagnosis of DS, 71% of them had learned of the diagnosis with their
Prior to the start of this review, we solicited input from an expert in partners present [Skotko, 2005]. Although pregnant women gen-
study design and public health policy. To keep our initial search as erally prefer to receive the diagnosis in person, as opposed to over
SKOTKO ET AL. 2363

TABLE I. Details of Articles Included in the Literature Review, Listed in Chronological Order

Location of Level of
References study Participants Study design evidencea
Helm et al. [1998] United States N 10, mothers who continued Retrospective case study with II-3
pregnancy with fetus with DS in-person interviews
Williams et al. [2002] United Kingdom N 70, practitioners involved in Retrospective case study with II-3
perinatal care in-person interviews
Tymstra et al. [2004] Netherlands N 10, mothers who continued Retrospective case study with II-3
pregnancy with fetus with DS in-person interviews
Skotko [2005] United States N 141, mothers who continued Retrospective case study with II-3
pregnancy with fetus with DS mailed questionnaires
Korenromp et al. [2007] Netherlands N 71, women who terminated Prospective cohort study with II-2
pregnancy with fetus with DS mailed questionnaires
DS, Down syndrome.
a
Levels of evidence as established by 1996 USPSTF guidelines [Agency for Healthcare Research and Quality, 2008].

the telephone, pregnant women who had arranged a phone call with that was most supportive for their needs. If the mother chooses to
their physicians at a pre-established time to learn the test results receive the diagnosis over the phone, the physician should arrange
were better able to prepare themselves [Skotko, 2005; Helm et al., for a follow-up office visit as soon as possible [Skotko, 2005].
1998]. Mothers who received the diagnosis prenatally were often Pregnant women from the Netherlands who were informed by a
happier with the birth of their child than mothers who had received home-visit from a general practitioner or midwife were satisfied
the diagnosis postnatally [Skotko, 2005]. This pattern can be with the way in which they were given the diagnosis [Tymstra et al.,
attributed to the fact that mothers who receive the diagnosis 2004].
prenatally have chosen to have a child with DS and have more
time to come to terms with the diagnosis [Skotko, 2005].
General information about DS, however, should not be saved What Information Should Be Given?
until a definitive diagnosis is made [Williams et al., 2002]. Many Mothers emphasized that at the time of receiving a definitive
pregnant women choose some form of prenatal screening prior to a prenatal diagnosis, they should be provided with up-to-date infor-
more invasive test such as CVS or amniocentesis. Physicians should mation about what is DS, what causes DS, and what are the
acknowledge that screening is an optional procedure and that expectations for a child with DS living today [Helm et al., 1998;
having knowledge about possible fetal anomalies has an ethical Skotko, 2005]. Current information should include descriptions of
dimension for some persons, which should be considered a priori common or anticipated health conditions seen in infants and young
[Williams et al., 2002]. Further, some pregnant women misunder- children with DS. However, the fact that the medical and neuro-
stand the screening tests as diagnostic options [Skotko, 2005]. developmental outcomes associated with DS cannot be predicted
Physicians should spend time explaining the difference between prenatally should be discussed explicitly [Korenromp et al., 2007].
screening and diagnostic testing, being careful to indicate that the Pregnant women who had received an up-to-date bibliography of
results of prenatal screening will come as a risk assessment and not DS resources expressed satisfaction with their physicians [Skotko,
as a positive or negative result [Skotko, 2005]. 2005].
Personal stories that demonstrate the potential and possibilities
Where Is the Best Place or Setting to Deliver the for children with DS should also be included [Skotko, 2005].
Pregnant women who expressed highest satisfaction with their
News? physicians were further offered contact information to other pa-
Pregnant women generally prefer to receive the prenatal diagnosis rents who have children with DS [Helm et al., 1998; Skotko, 2005].
during a personal visit with their physician, as opposed to receiving By contrast, information that should not be provided includes
the diagnosis at home over the telephone [Helm et al., 1998; Skotko, outdated information, unsolicited personal opinions, or any com-
2005]. The percentage of pregnant women who actually learned of ments which appear to question parents decisions [Helm et al.,
the diagnosis at an in-person visit with their physician varied by 1998].
study20% (N 10) in 1998 [Helm et al., 1998], 40% (N 10) in Mothers emphasized that at the time of providing a definitive
2004 [Tymstra et al., 2004], and 27% (N 141) in 2005 [Skotko, prenatal diagnosis, physicians should discuss all options available to
2005]. Some pregnant women who had learned of the diagnosis by them regarding the disposition of their pregnancy [Skotko, 2005].
an unscheduled call from their physician or physicians office These include continuing the pregnancy, terminating the pregnan-
expressed intense resentment toward their obstetricians and cy, or placing the baby up for adoption after birth. In a survey of 71
genetic counselors [Tymstra et al., 2004; Skotko, 2005]. By contrast, women from the Netherlands who terminated their wanted preg-
pregnant women who had received the diagnosis by telephone at a nancies after learning their fetus had DS, 34% of them indicated that
pre-established time were able to ensure that they were in a setting the option of continuation was not raised [Korenromp et al., 2007].
2364 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Physicians should not assume that the exclusive decision made by results of prenatal screening tests should always be conveyed as
women is termination [Skotko, 2005]. They may also need to risk assessments and never as positive or negative results.
emphasize that both parents might receive negative comments The positive and negative interpretations are based on
from people around them no matter what decision they make and arbitrary risk cut-offs established by physicians and researchers;
that feelings of guilt are common [Korenromp et al., 2007]. pregnant women have asked that they be the ones to determine
their own personal risk cut-off value.
How Should the News Be Communicated? * Prior to undergoing CVS or amniocentesis, obstetricians should
ask pregnant women if they have already formed a definitive
Parents have expressed a desire to receive information in a manner personal decision on how they would proceed with the
respectful of their feelings and discussed in a nonjudgmental pregnancy if their fetus were to be identified as having DS. If
fashion which supports their own personal decisions [Helm the pregnant women have already come to a conclusive personal
et al., 1998; Skotko, 2005]. Sensitive language should also be used. decision, obstetricians should respect those wishes. If they have
In the largest study to date, most of the mothers requested that not, the obstetrician should mention that, dependent on timing,
physicians not begin the conversation by saying, Im sorry, or the options include terminating the pregnancy, continuing the
Unfortunately, I have some bad news to share [Skotko, 2005]. pregnancy and raising the baby, or placing the baby up for
Instead, physicians should use neutral and nondirective language. adoption after birth.
Outdated and offensive terminology (e.g., mongolism) should * Once a definitive prenatal result for DS comes back, the person to
not be part of the discussion. The most appropriate descriptor is a deliver the news should be the health care professional most
fetus with Down syndrome or a fetus with Trisomy 21, if knowledgeable about DS who has also received specific training
applicable. Mothers further advise against physicians making them on how to deliver sensitive diagnoses to parents. In some cases,
feel hurried in their decision-making, sharing unsolicited personal this is the obstetrician; but most often, the obstetrician will need
opinions, or trying to change parents decisions [Helm et al., 1998; to work jointly with the local health care professional who has the
Williams et al., 2002; Skotko, 2005]. most expertise in DS (such as a geneticist, genetic counselor,
developmental-behavioral pediatrician, or neonatologist). A
DISCUSSION health care professional who can speak knowledgeably about
DS should be available for the first conversation and not simply by
While the number of research articles on advances in prenatal
referral on subsequent visit.
testing for DS continue to multiply, few are dedicated to under-
standing how physicians communicate a test result to expectant
* Ideally, these health care professionals should inform parents
mothers. Of the studies reviewed here over the past decade, nearly of the diagnosis during a personal visit. In cases where a
all mothers reported initial feelings of shock, anger, and fear after personal visit is not feasible or practical, the obstetrician
receiving such a diagnosis [Helm et al., 1998; Skotko, 2005]. Yet, should preemptively identify a time with the mother when
these same mothers indicate that if physicians were to implement a the resultswhatever they might becan be discussed by
few simple measures, the experience could be much more sensitive phone. The obstetrician should also mention that if the results
indicate that the fetus has DS, he or she might invite a DS
to their emotions and needs.
expert to participate in the telephone call. By establishing, in
advance, a time and setting in which to receive the diagnosis,
Recommendations physicians allow pregnant women to ensure that any desired
The following recommendations are based on consistent evi- people or support systems are in place.
dence from the articles that were reviewed. These suggestions are * During this discussion the physician needs to answer: What
meant to serve as helpful guideposts for todays physicians but is DS, and what causes the condition? As part of the
should not be considered inclusive of all possible recommenda- explanation, physicians should include descriptionsand the
tions. Likewise, adherence to these suggestions do not necessarily probabilitiesof common or anticipated health conditions seen
ensure a satisfactory experience for both the physician and in infants and young children with DS <1 year old. Also, included
patient. Recommendations are offered for the ideal situations, should be the availability and success of medical and surgical
with the understanding that some measures might need to be treatments for these conditions. (The healthcare guidelines for DS
adapted to fit the resources available within a particular health- can be accessed through the National Down Syndrome Society,
care community. Nevertheless, the evidence suggests that most www.ndss.org, and the National Down Syndrome Congress,
parents receiving a prenatal diagnosis of DS would want the www.ndsccenter.org.) Parents should be counseled that the level
following measures implemented: of neurodevelopmental function for their fetus with DS cannot be
predicted prenatally. While they should be told to anticipate
* Obstetricians should clearly outline the differences between delays in reaching developmental milestones, every child with
prenatal screening and definitive testing so that parents can DS is expected to make developmental progress during the early
understand what the results will mean and make an a priori years at his or her own pace. Early Intervention, including speech,
informed decision on how best to proceed with DS testing. Many occupational, and physical therapies, is available to help children
women, especially those reluctant to undergo CVS or amnio- with DS reach their full potential. This recommendation is
centesis, regret receiving the results of prenatal screening if they consistent with the healthcare guidelines established by the AAP
had incorrectly understood them to be definitive tests. The [American Academy of Pediatrics. Committee on Genetics, 2001].
SKOTKO ET AL. 2365

* During the discussion, physicians must also answer: What are Chiu, 2008; Puszyk et al., 2008]. A paucity of literature exists,
realistic expectations for a child with DS living today? Until more however, in how physicians will convey these diagnoses, and crucial
epidemiological family research is done on DS, physicians should to this process will be the answers to several pressing questions.
use representative stories that demonstrate the possibilities While the literature is clear that accurate, up-to-date information
available for people with DS today (examples available at about DS should be conveyed, what exactly should be
www.ndss.org and www.ndsccenter.org). Further, physicians communicatedand to what detail? Further, what knowledge is
should be certain to offer contact information for local support best conveyed orally, and what information is best relayed in print
groups and community resources to all expectant parents who or alternative media? Research clearly shows that mothers retain
have not reached an unequivocal decision on how to proceed with great accuracy the first words that physicians use [Skotko,
with their pregnancy or who have definitively chosen to continue 2005]; other studies demonstrate that they can recall with nearly
the pregnancy. Physicians should explain that DS-specific sup- 82% accuracy most of the conversation some 20 years later [Carr,
port groups are informed primarily by parents who chose to 1988]. Focus on the right balance of information should be a
continue their pregnancies and are willing to offer their per- priority for further investigation.
spectives on having a son or daughter with DS. Many of these DS The recommendations offered here are predominantly based on
support groups can also offer up-to-date and accurate informa- research surveying mothers who received a prenatal diagnosis for
tion about DS, helping expectant parents to make informed DS and chose to continue their pregnancies. We could find only one
decisions. If the expectant mother is interested and consents, the article surveying mothers who chose to terminate their pregnancies
physician might even proactively contact the local support group after receiving a definitive diagnosis. This research, conducted in
and forward the contact information for the expectant parent(s). the Netherlands, suggests that these mothers decisions are based on
Connecting the expectant parent(s) with another parent(s) has an understanding that DS was an abnormality too severe and a
been shown to be among the most helpful measures a physician burden that was too heavy for the child [Korenromp et al.,
can do during this first conversation. Other parents are able to 2007]. Similar research should ask pregnant women in the U.S. who
share real-life experiences that physicians most often cannot. have terminated their pregnancies: How was the experience for you?
Local DS support groups can be quickly located at www.ndss.org What understanding did you have of DS, and what information was
and www.ndsccenter.org. provided to you from your physicians? Mothers who choose to
* Physicians should use nondirective language during their terminate their pregnancies after receiving a prenatal diagnosis of
counseling. Instead of saying Im sorry . . . or Unfortunately, DS might have different perceptions of their medical providers in
have some bad news to share . . ., physicians should be careful to comparison to those mothers who continue their pregnancies.
use sensitive language that does not proscribe value on people Nonetheless, the evidence-based recommendations for improved
with DS. Offensive language (e.g., mongolism) should never be counseling and better information should benefit all patients who
used in the discussion. receive a prenatal diagnosis of DS, regardless of the personal
* At the end of the visit, the physician should offer an up-to-date decision that they make with the information.
bibliography of DS resources such as those available from the Further, the majority of research has surveyed mothers who are
National Down Syndrome Society (www.ndss.org) or the Na- white and from middle- to upper-economic brackets. Also, our
tional Down Syndrome Congress (www.ndsccenter.org) for review was limited only to those studies published in English.
those parents have not reached an unequivocal decision on how Future research should seek to incorporate parents with more
to proceed with their pregnancy or who have definitively chosen socioeconomic, cultural, and religious diversities from the U.S.
to continue the pregnancy. A study of 507 ACOG fellows and and other countries so that support and outreach could target
junior fellows, conducted in 2008, indicated that only 29% of unique needs.
physicians provide educational materials when making a prena- While this review focuses exclusively on the first conversation
tal diagnosis [Driscoll et al., 2009]. with expectant parents, equally important are the dynamics of the
* The physician should make arrangements for a follow-up ap- subsequent conversations. Who should meet with the parents next?
pointment with the parent(s), including any desired meetings When and where should this meeting take place? What information
with pediatric subspecialists (e.g., geneticists, genetic counselors, should be introduced and discussed then? Research is noticeably
or developmentalbehavioral pediatricians). If the fetus with DS absent in addressing these questions.
has a known structural cardiac defect, a consultation with a
pediatric cardiologist should be arranged, and the delivery may
need to be performed at a hospital where a pediatric cardiac Implications
surgical team is available. Pregnant women who receive a prenatal diagnosis of DS and
continue their pregnancies are able to experience the birthing
process in more celebratory ways in comparison to their counter-
Future Research parts who learn about the diagnosis for the first time during the
With the rapid advances in prenatal testing, there is a real potential postnatal period [Skotko, 2005]. Receiving the diagnosis in advance
that nearly all women in the future will have the opportunity in the seems to allow parents the needed time to reconcile their own
first trimester to know whether or not their fetus has DS from a emotions and prepare for the child, should they choose to carry the
definitive, noninvasive test through the detection of fetal DNA or pregnancy to term. As more noninvasive definitive serum testing
RNA in maternal serum [Lo et al., 2007; Fan et al., 2008; Lo and becomes commercially available to women, a likely hypothesis is
2366 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

that more women will receive prenatal diagnoses of DS. How they Thomas Center for Down Syndrome, Division of Developmental
deal with the news and what personal decisions are ultimately made and Behavioral Pediatrics, Cincinnati Childrens Hospital Medical
is dependent, to a certain extent, on the accuracy of the information Center; David Patterson, PhD, Eleanor Roosevelt Institute and the
being conveyed. Department of Biological Sciences, University of Denver; Siegfried
Most, if not all, of these recommendations from surveyed parents M. Pueschel, MD, PhD, JD, MPH, Down Syndrome Program,
are reasonable and thoughtful. Yet, many mothers continue to Hasbro Childrens Hospital, Rhode Island Hospital; Nancy J.
report that medical professionals do not yet incorporate these Roizen, MD, Case Western Reserve School of Medicine; Stephanie
measures. Part of the explanation can likely be attributed to Sherman, PhD, Department of Human Genetics, Emory University;
physicians lack of training [Skotko, 2005; Cleary-Goldman Sally R. Shott, MD, Department of Pediatric Otolaryngology,
et al., 2006; Driscoll et al., 2009]. Training should become a priority Childrens Hospital Medical Center, University of Cincinnati
for obstetricians, geneticists, genetic counselors, family medicine College of Medicine; Romney L. Snyder-Croft, LCSW, ACSW, The
physicians, midwives, and other medical professionals associated Evelyn Frye Center; Karen L. Summar, MD, MS, Down Syndrome
with the delivery of a prenatal diagnosis of DS. Educational Program, Monroe Carell, Jr. Childrens Hospital at Vanderbilt;
opportunities include lecture series, grand rounds presentations, Leslie Walker-Hirsch, MEd, Moonstone Sexuality Education and
clinical experiences, and online simulation [Ferguson et al., 2006]. Consultation Services; Patricia C. Winders, PT, The Childrens
Until such training is put in place, pregnant women will continue to Hospital, University of Colorado Denver.
base informed decisions on sometimes incomplete and inaccu-
rate information. REFERENCES
ACOG Committee on Practice Bulletins. 2007. ACOG practice bulletin no.
ACKNOWLEDGMENTS 77: Screening for fetal chromosomal abnormalities. Obstet Gynecol
The authors would like to thank the National Down Syndrome 109:217227.
Society (NDSS), especially Beth Finkelstein, for providing the Agency for Healthcare Research and Quality. 2008. Methods and back-
resources for this project. Alex Kemper, MD, MPH, MS, provided ground: US preventative services task force (USPSTF). Available at
www.ahrq.gov/clinic/uspstmeth.htm. Accessed March 14, 2008.
invaluable assistance on review design. Joanna Ng was very helpful
in formatting the manuscript and creating our reference library. American Academy of Pediatrics. Committee on Genetics. 2001. American
Catherine Distler assisted with data extraction for literature review. academy of pediatrics: Health supervision for children with down
syndrome. Pediatrics 107:442449.
Alison Clapp of Childrens Hospital Boston Library provided
invaluable assistance in identifying and locating the references. American College of Obstetricians and Gynecologists. 2007. ACOG prac-
tice bulletin no. 88, December 2007. Invasive prenatal testing for aneu-
ploidy. Obstet Gynecol 110:14591467.
APPENDIX Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, Devine O,
Petrini J, Ramadhani TA, Hobbs CA, Kirby RS. 2006. National estimates
These members of the Down Syndrome Diagnosis Study Group and race/ethnic-specific variation of selected birth defects in the united
provided invaluable external reviews prior to submission of this states, 19992001. Birth Defects Res A Clin Mol Teratol 76:747756.
article: Campbell K. Brasington, MS, CGC, Department of Pediat-
Carr J. 1988. Six weeks to twenty-one years old: A longitudinal study of
rics, Clinical Genetics, Levine Childrens Hospital at Carolinas children with downs syndrome and their families. third jack tizard
Medical Center; Maryanne Bruni, BScOT, OT Reg(Ont), University memorial lecture. J Child Psychol Psychiatry 29:407431.
of Toronto; Brian Chicoine, MD, Adult Down Syndrome Center, Cleary-Goldman J, Morgan MA, Malone FD, Robinson JN, DAlton ME,
Advocate Lutheran General Hospital; Laura Cifra-Bean, MD, Lake Schulkin J. 2006. Screening for down syndrome: Practice patterns and
Hospital System; Allen C. Crocker, MD, Down Syndrome Program, knowledge of obstetricians and gynecologists. Obstet Gynecol 107:1117.
Department of Developmental Medicine, Childrens Hospital Driscoll DA, Gross SJ, Professional Practice and Guidelines Committee.
Boston; Sindoor Desai, BDS, S.G. Dental, P.C.; Jose C. Florez, MD, 2008. First trimester diagnosis and screening for fetal aneuploidy. Genet
PhD, Down Syndrome Clinic for Adults and Adolescents, Center for Med 10:7375.
Human Genetics Research, Massachusetts General Hospital; Driscoll DA, Morgan MA, Schulkin J. 2009. Screening for down syndrome:
Marjorie Greenfield, MD, Department of Obstetrics and Gyneco- Changing practice of obstetricians. Am J Obstet Gynecol 200:
459.e1459.e9.
logy, University Hospitals Case Medical Center; Terry Hassold, PhD,
Center for Reproductive Biology, Washington State University; Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. 2008. Nonin-
vasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from
Penny Kadmon, MD, Childrens Endocrinology of Rhode Island,
maternal blood. Proc Natl Acad Sci USA 105:1626616271.
Warren Alpert Medical School of Brown University; Julie R.
Ferguson JE II, Kleinert HL, Lunney CA, Campbell LR. 2006. Resident
Korenberg, MD, PhD, Department of Pediatrics and the Brain
physicians competencies and attitudes in delivering a postnatal diagnosis
Institute, The University of Utah School of Medicine; Ira T. Lott, of down syndrome. Obstet Gynecol 108:898905.
MD, Department of Neurology, University of California Irvine and
Helm DT, Miranda S, Chedd NA. 1998. Prenatal diagnosis of down
Childrens Hospital of Orange County; Joan Guthrie Medlen, RD, syndrome: Mothers reflections on supports needed from diagnosis to
LD, Down Syndrome EducationUSA; Dennis E. McGuire, PhD, birth. Ment Retard 36:5561.
Adult Down Syndrome Center, Lutheran General Hospital; William Korenromp MJ, Page-Christiaens GC, van den Bout J, Mulder EJ, Visser
Mobley, MD, PhD, Neuroscience Institute, Stanford University; GH. 2007. Maternal decision to terminate pregnancy in case of Down
Lynn Nadel, PhD, University of Arizona; Bonnie Patterson, MD, syndrome. Am J Obstet Gynecol 196:149.e1149.11.
SKOTKO ET AL. 2367

Lo YM, Chiu RW. 2008. Noninvasive prenatal diagnosis of fetal chromo- Skotko BG, Kishnani PS, Capone GT. 2009. Postnatal diagnosis of Down
somal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem syndrome: Synthesis of the evidence on how best to deliver the news.
54:461466. Pediatrics (in press).
Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Special Olympics. 2007. The health and health care of people with intellec-
Jin Y, Nicolaides KH, Cantor CR, Ding C. 2007. Plasma placental RNA tual disabilities. Available at http://www.specialolympics.org. Accessed
allelic ratio permits noninvasive prenatal chromosomal aneuploidy February 1, 2007.
detection. Nat Med 13:218223.
Tymstra T, Bosboom J, Bouman K. 2004. Prenatal diagnosis of downs
Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP. 2008. syndrome: Experiences of women who decided to continue with the
Revisiting the fetal loss rate after second-trimester genetic amniocentesis: pregnancy. Int J Risk Safety Med 16:9196.
A single centers 16-year experience. Obstet Gynecol 111:589595.
Puszyk WM, Crea F, Old RW. 2008. Noninvasive prenatal diagnosis of Wertz DC. 2000. Drawing lines: Notes for policymakers. In: Parens E, Asch
aneuploidy using cell-free nucleic acids in maternal blood: Promises and A, editors. Prenatal testing and disability rights. Washington, DC:
unanswered questions. Prenat Diagn 28:16. Georgetown University Press. pp. 261287.
Skotko BG. 2005. Prenatally diagnosed Down syndrome: Mothers who Williams C, Alderson P, Farsides B. 2002. What constitutes balanced
continued their pregnancies evaluate their health care providers. Am J information in the practitioners portrayals of downs syndrome? Mid-
Obstet Gynecol 192:670677. wifery 18:230237.