Journal of Perinatology (2009) 29, 201–204

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ORIGINAL ARTICLE
Fetal macrocrania: diagnosis, delivery and outcomes
MR Laye1, BC Moore2, MA Kosek3, LK Bufkin4, JC Morrison4 and JA Bofill4
1
Regional Maternal-Fetal Medicine, Spartanburg Regional Medical Center, Spartanburg, SC, USA; 2Department of Obstetrics and
Gynecology, The University of Tennessee College of Medicine Chattanooga, Chattanooga, TN, USA; 3Division of Neonatology,
Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA and 4Division of Maternal-Fetal Medicine,
Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson, MS, USA

different entities. Making the distinction is important because use of

Objective: To describe fetal macrocrania including prenatal diagnosis, the correct term may yield information about the underlying process
delivery considerations and clinical outcomes. causing the clinical finding, and may confer information about
Study Design: A retrospective case series was developed by reviewing prognosis and/or management. Macrocrania is defined as an
26 885 ultrasounds performed between 1 March 2003 and 30 June 2007 abnormal increase in the size of the skull, with the facial area being
for the prenatal diagnosis of macrocrania. Medical records of each disproportionately small in comparison. In contrast, macrocephaly
mother/infant pair were reviewed for demographic information, is excessive size of the whole head, whereas megalencephaly
ultrasound findings, obstetric management and outcomes. represents overgrowth of the brain.1
Result: Twenty-three fetuses were diagnosed with macrocrania. Median Macrocrania is a term rarely encountered in obstetrics or
gestational age at diagnosis was 31.1 weeks (range 18.3–38.1) and at prenatal diagnosis but is a very common diagnosis in pediatrics
delivery was 36.9 weeks (range 30.7–39.9). Fifteen patients (65%) and in radiology, affecting up to 5% of pediatric patients.2
underwent amniocentesis for karyotype; none were aneuploid but one had Unfortunately, diagnostic criteria are inconsistent. A review of the
a duplication on chromosome 7. All the 23 infants were liveborn. Twenty- literature on the topic shows criteria that are both objective and
one deliveries were by Cesarean (91%), with thirteen of these by classical subjective. Objective measures are inconsistent from study to study
incision (62%). Of the infants, 5 (22%) died shortly after birth, 16 (70%) and include children with a head circumference >95th–98th
were stabilized in the neonatal intensive care unit and were discharged percentile for age, disproportionate head size compared with body
alive and 2 (8%) were transferred to another center and subsequently length and weight, and rapidly enlarging head circumference on
died. Eighteen babies required ventriculoperitoneal shunting (78%). serial measurements.3,4 The descriptors ‘disproportionate’ and
Conclusion: Macrocrania is a diagnosis usually made in children but ‘rapidly enlarging’ are not well defined. A large-appearing head by
can also be made prenatally. Fetal macrocrania is usually a result of observation is an example of a subjective measure.4
ventriculomegaly due to an obstructive process to cerebrospinal fluid flow. In the pediatric population, macrocrania is most commonly due
Abdominal delivery is usually required, often necessitating a classical to abnormal fluid collections in the head.3 These most commonly
uterine incision. Targeted ultrasonography, extensive counseling of include abnormalities in the ventricular system of the central
parents and delivery at a tertiary care center with availability of nervous system (ventriculomegaly) or external hydrocephalus
neurosurgery is recommended. (abnormal fluid collection in the subarachnoid space with normal
Journal of Perinatology (2009) 29, 201–204; doi:10.1038/jp.2008.196; cerebral ventricles).2 When ventriculomegaly is noted, this is most
published online 4 December 2008 often due to obstruction in the flow of cerebrospinal fluid, such as
is seen with stenosis or atresia of the aqueduct of Sylvius.4 Other
Keywords: prenatal diagnosis; ultrasound; anomaly; ventriculomegaly
differential diagnostic considerations when macrocrania is
encountered include space occupying lesions such as tumors,
Introduction hemorrhages, large arachnoid cysts and myelomeningoceles.2,5
It has long been advocated that children considered to have
Terms used to describe a large head are often used interchangeably.
macrocrania be evaluated with imaging studies to determine the
However, this is incorrect because the different terms represent
need for surgical versus nonsurgical management.2,6 Which
Correspondence: Dr MR Laye, Regional Maternal-Fetal Medicine, 853 North Church Street, modality to use is the subject of some debate. The classic way to
Suite 610, Spartanburg, SC 29303, USA. evaluate children with macrocrania was to use ventriculography
E-mail: [email protected]
Received 1 June 2008; revised 21 October 2008; accepted 24 October 2008; published online
and cerebral angiography. Due to the desire to avoid these invasive
4 December 2008 tests in children, these were limited to only the most severe cases.
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The introduction of computed tomography (CT) permitted outpacing the other biometric parameters by greater than or
noninvasive evaluation of these cases, allowing those with lesser equal to 4 weeks size.
degrees of head enlargement to be included.3 Cranial ultrasound (2) Fetal head size greater than would likely be successfully
has since been shown to correlate well with CT, with no significant delivered vaginally as evidenced by a biparietal diameter of
abnormality missed using this modality. This, coupled with the greater than or equal to 11 cm (given that a completely dilated
desire to avoid ionizing radiation in children, led to cranial cervix is usually 10 cm).
ultrasonography being advocated as a first line method of imaging
the head in pediatrics.4 CT or magnetic resonance imaging is now
used in cases that are unclear, finer discrimination is needed, or Results
for imaging the external subarachnoid spaces.6 A total of 26 885 ultrasound studies were reviewed and 23 fetuses
Given the frequency of ultrasonography during pregnancy and diagnosed with macrocrania were identified. None were lost to
that evaluation of the head and intracranial contents is a part of each follow-up and all deliveries were at our institution. The
targeted sonogram, many of the same diagnoses made in children demographics of this cohort are summarized in Table 1. Fifteen
with macrocrania should be made in the fetus. The paucity of patients (65%) underwent genetic amniocentesis; none were
information in the obstetric literature regarding the prenatal diagnosis aneuploid but one had a duplication on chromosome 7. All the 23
of macrocrania, the associated obstetric management and outcomes is fetuses were liveborn. Continuous variables regarding infant birth
striking. Accordingly, we created this retrospective case series at our data are summarized in Table 2. Fifteen infants (65%) were male.
tertiary referral center so that we could better counsel patients and
referring physicians when a fetus with an abnormally large head is Table 1 Demographic variables of patients diagnosed with macrocrania
encountered on ultrasound. Our main interests included Demographic variable Median result (range)
demographics of patients whose fetuses were diagnosed with
macrocrania, obstetric management and delivery considerations in Maternal age 23 years (15–36)
Gravidity 2 (1–7)
these pregnancies and outcomes including duration of stay in the
Parity 1 (0–4)
neonatal intensive care unit (NICU), need for surgery shortly after
Gestational age at diagnosis 31.1 weeks (18.3–38.1)
delivery and ultimate survival. Gestational age at delivery 36.9 weeks (30.7–39.9)

Methods Table 2 Infant birth data of patients diagnosed with macrocrania

The Institutional Review Board of the University of Mississippi
Variable Median result (range)
Medical Center (UMC), the primary perinatal referral center for the
state of Mississippi, approved this retrospective review of deidentified Birth weight 3308 g (2230–4305)
data (IRB File no. 2007–0016). Sonographers, maternal–fetal APGAR at 5 min 9 (2–9)
medicine fellows and attending physicians performed all Head circumference 42.5 cm (35.5–59)
ultrasounds in the Antenatal Diagnostic Unit at UMC. Ultrasound
studies performed during a 52-month period from March 2003 to
June 2007 were reviewed and those cases in which the prenatal Table 3 Underlying causes of macrocrania by diagnosis
diagnosis of macrocrania was suspected were identified. This was Diagnosis Number of infants
followed by a review of both maternal and neonatal medical (% of all infants)
records. Demographic variables, fetal information including
diagnoses, obstetric management including amniocentesis and Stenosis/atresia of the aqueduct of Sylvius 10 (43.5)
results, timing and mode of delivery and neonatal data including Meningomyelocele 3 (13.0)
survival were recorded for each mother/infant pair. VATER anomalad 3 (13.0)
Communicating hydrocephalus 1 (4.3)
Diagnostic criteria were based on those used for children after
Hydranencephaly 1 (4.3)
birth. However, choosing a particular percentile above which we
Dandy–Walker defect 1 (4.3)
could make the diagnosis would have been arbitrary given the
Goldenhar syndrome 1 (4.3)
discrepancies by different authors in the pediatric literature as Pseudoporencephaly 1 (4.3)
described above. Therefore, we considered a fetus to have Intracranial hemorrhage 1 (4.3)
macrocrania if either or both of the following were met: Agenesis of corpus callosum and interhemispheric cyst 1 (4.3)
(1) A rapidly enlarging head as evidenced by the head
Total 23 (B100)
measurements (head circumference and biparietal diameter)

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Twenty-one deliveries were by Cesarean (91%), with thirteen of confirmed after delivery by appropriate imaging, consultation and
these by classical uterine incision (62%). Of the infants, 5 (22%) autopsy where appropriate. A patient-by-patient summary of
died shortly after birth, 16 (70%) were stabilized in the NICU with ultrasound findings, diagnoses (before and after delivery),
subsequent discharge and 2 (8%) were transferred to another outcomes and length of NICU stay can be seen in Table 4.
center and subsequently died. Median length of stay in the NICU
was 21 days (range 3–101). Eighteen babies (78%) required
ventriculoperitoneal shunting; the median day of life for this Discussion
procedure was day 2 (range 1–20). This case series documents our experience with fetal
The underlying causes of the macrocrania encountered on macrocrania, and to our knowledge is the first to specifically
prenatal sonography are listed in Table 3. All diagnoses were describe the diagnosis prenatally. Therefore, our data may be
Table 4 Summary of ultrasound findings, diagnoses, outcomes, and NICU length of stay (LOS) for each patient. The diagnoses in parentheses were made after delivery
and were not documented antepartum

Pt no. Ultrasound findings Diagnoses Outcome NICU LOS

(days)

1 Midline falx, no neural tissue above brainstem Hydranencephaly Died 4

2 Dilation of lateral and third ventricles Aqueductal stenosis Survived 21
3 Dilation of lateral and third ventricles Aqueductal stenosis Survived 7
4 Dilation of lateral and third ventricles Aqueductal stenosis (VATER anomalad: Transferred, Died 15
imperforate anus,
tracheal stenosis, single kidney, hemivertebrae)
5 Dilation of lateral and third ventricles, posterior fossa cyst, Dandy–Walker malformation, (ear tags, Survived 50
single umbilical artery perimembranous VSD)
6 Dilated lateral and third ventricles, polyhydramnios Aqueductal stenosis, (periauricular skin tags, Survived 20
truncus arteriosus)
7 Dilated lateral and third ventricles Aqueductal stenosis (Goldenhar syndrome: Survived 45
left anotia, right microtia, hypertelorism,
cleft palate)
8 Absence of CSP, intrahemishperic cyst, hypertelorism, absent clavicles Agenesis of the corpus callosum, Survived 4
intrahemispheric cyst, (pachygyria)
9 Unilateral absence of brain parenchyma extending to skull table Pseudoporencephaly Survived 22
10 Dilation of lateral and third ventricles Aqueductal stenosis Survived 13
11 Dilated lateral and third ventricles, cleft lip and palate, single umbilical artery, VATER anomalad (imperforate anus, Died 27
hemivertebrae, clenched right hand ambiguous genitalia)
12 Dilated lateral and third ventricles, thoracolumbar ONTD Meningomyelocele Survived 34
13 Dilated lateral and third ventricles Aqueductal stenosis Survived 44
14 Disorganized intracranial tissue, visible clot and fibrin stranding in skull Intracranial hemorrhage Died 4
15 Dilated lateral and third ventricles Aquedutal stenosis Survived 13
16 Dilated lateral and third ventricles, dilated loops of small bowel, ventricular Aqueductal stenosis, jejunal atresia, Died 23
septal defect, polyhydramios (interrupted aortic arch)
17 Dilated lateral and third ventricles, lumbosacral ONTD, talipes Meningomyelocele Survived 31
equinovarus deformity
18 Dilation of lateral and third ventricles, polyhydramnios Aqueductal stenosis Survived 50
19 Dilation of lateral and third ventricles, hypoplastic cerebellum Aqueductal stenosis Survived 21
20 Dilation of lateral and third ventricles, lumbosacral ONTD Meningomyelocele Survived 19
21 Dilated lateral and third ventricles, esophageal atresia, hemivertebrae, VATER anomalad, Died 101
bifid great toe, pulmonary hypoplasia, preaxial polydactyly, (tracheoesophageal fisulta)
malformed tibia and fibula on right, ventriculoseptal defect, short ribs
22 Dilated lateral and third ventricles Aqueductal stenosis Survived 22
23 Tetraventricular dilation, polyhydramnios, micrognathia, atriventricular Communicating hydrocephalus, Transferred, died 3
septal defect, hypoplastic left ventricle AV canal defect,
(coarctation of aorta, interrupted IVC)
Abbreviations: AV, atrioventricular; IVC, inferior vena cava; NICU, neonatal intensive care unit;ONTD, open neural tube defect; VSD, ventricular septal defect.

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useful in counseling patients and detailing physicians on what to with the VATER anomalad and the infant with hydranencephaly
expect once the diagnosis is made. However, our data must be died shortly after birth but all cases with isolated aqueductal
viewed in light of what has been reported in infants after birth. stenosis survived. Long-term outcomes for survivors will also
Our median gestational age at diagnosis (31.1 weeks) is vary based upon the underlying diagnoses and are a potential
somewhat later than expected. However, in our study the most further course of investigation. The pediatric literature reflects that
frequent cause of macrocrania was stenosis/atresia of the aqueduct infants do well if the macrocrania is due to external hydrocephalus
of Sylvius. This leads to progressive ventriculomegaly and although or mild ventriculomegaly.2,4,6,7 However, when moderate to
the diagnosis of ventriculomegaly can be made earlier in gestation, severe ventriculomegaly is noted, especially when associated with
the diagnosis of macrocrania is only possible after weeks or months cerebral atrophy, outcomes are poor. Bosnjak et al. reported
when the ventriculomegaly has become severe enough to cause only 2 of 20 patients with cerebral atrophy were neurologically
marked expansion of the fetal head. normal at presentation and in most cases the initial abnormal
The median gestational age at delivery (36.9 weeks) is more a finding persisted at follow-up.6 Babcock et al. reported that
reflection of the management of these patients than the natural 19% of term infants and 25% of preterm infants with
history of infants with macrocrania. Management of prenatal macrocrania were neurologically or developmentally abnormal
patients with suspected fetal macrocrania at the University of on follow-up that ranged from 1 month to 5 years.4 The diagnosis
Mississippi includes observation with monthly scans to follow the of macrocrania has also been linked to epilepsy and autistic
size of the head and amniocentesis at 37 weeks followed by delivery disorders.8
if lung maturity is documented. This strategy allows for patients In summary, the diagnosis of macrocrania is possible
from our fairly rural state to deliver at a tertiary institution. Indeed, prenatally. Fetal macrocrania is usually a result of
70% of infants (16/23) in this series underwent amniocentesis for ventriculomegaly due to an obstructive process to cerebrospinal
fetal lung maturity, whereas the other 30% had preterm labor or an fluid flow. Suspicion for macrocrania necessitates a targeted
indicated preterm delivery before undergoing the amniocentesis as sonographic evaluation by personnel experienced in prenatal
planned. diagnosis to evaluate for the underlying pathology leading to the
The underlying diagnoses leading to fetal macrocrania in this macrocrania. This allows extensive counseling of parents,
series were similar to that recorded in pediatric populations. Donat arrangements for delivery at a tertiary care center with availability
reported in 1981 that hydrocephalus from ventriculomegaly is the of neurosurgery, and evaluation for mode of delivery. Abdominal
leading cause of macrocrania in children,3 and the current case delivery is usually required, often necessitating a classical uterine
series echoes this finding. Babcock et al. reported in 1988 that in incision.
infants with macrocrania, 5 of 11 (45.5%) infants with
significantly abnormal findings on cranial sonography had
aqueductal stenosis.4 This is very similar to the 43.5% incidence of Acknowledgments
aqueductal stenosis reported in this series. No financial support was obtained for this study.
We noted a majority of male fetuses diagnosed with
macrocrania. Our 65% male predominance is very close that
previously reported in children. Medina reported 59 of 88 (67%) References
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Journal of Perinatology