Sepulveda W, Wong AE, Andreeva E, Odegova N, Martinez-Ten P, Meagher S. Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases. Ultrasound Obstet Gynecol. 2015 Jul;46(1):29-33
ABSTRACT
OBJECTIVES: To describe the sonographic features of fetal cephalocele diagnosed at
the time of first-trimester ultrasound screening for aneuploidy.
METHODS: This was a retrospective review of cases of cephalocele diagnosed in the
first trimester at four fetal medicine referral centers. Once diagnosis was
suspected, a transvaginal ultrasound examination was offered to improve depiction
of the cranial defect and enhance examination of fetal anatomy, with special
attention given to the location, size and content of defects. To assure
consistency in diagnosis, representative pictures and videoclip sequences of the
cranial defect were obtained and reviewed by at least two authors. Cases were
classified and compared with the assessment made at diagnosis.
RESULTS: Of the 35 affected fetuses identified, 33 were of a singleton pregnancy
and two were of twin pregnancies in which the other fetus was unaffected. The
lesion was classified as a cranial meningocele in 13 (37%) cases and as an
encephalocele in 22 (63%). The bone defect was occipital in 27 (77%), frontal in
three (9%), parietal in three (9%) and non-classifiable in two (6%). Twelve (34%)
were considered as small in size, 11 (31%) as medium and 12 (34%) as large. There
were no reported cases of aneuploidy; however, four (11%) cases were associated
with Meckel-Gruber syndrome, two (6%) with a disruptive syndrome and one (3%)
with skeletal dysplasia. Eight (23%) pregnancies were lost to follow-up. Parents
opted for termination of pregnancy in 21 of the 27 remaining cases and, of the
six ongoing pregnancies, four patients miscarried or the fetus died in utero
during the second trimester, one liveborn infant died shortly after delivery and
one underwent neonatal surgery for an isolated cranial meningocele and is
currently doing well.
CONCLUSIONS: First-trimester sonographic diagnosis of cephalocele is accomplished
easily with a detailed examination of the skull contour at the time of routine
assessment of the axial and sagittal views of the head for measurement of the
biparietal diameter and nuchal translucency, respectively. However, the
sonographic features are highly variable. A significant proportion of cases are
associated with genetic or disruptive syndromes. Prenatal diagnosis of
cephalocele in the first trimester was associated with a high rate of termination
of pregnancy and early intrauterine fetal demise. Only one fetus in this series
survived and is neurologically intact; therefore, the prognosis of this condition
remains poor.
Sepulveda W, Wong AE, Andreeva E, Odegova N, Martinez-Ten P, Meagher S (2014) 'Biparietal diameter-to-crown-rump length disproportion in first-trimester fetuses with holoprosencephaly', J Ultrasound Med. Jul;33(7):1165-9
OBJECTIVES: To determine whether the biparietal diameter measurement is altered
in first-trimester fetuses with holoprosencephaly.
METHODS: Cases of holoprosencephaly were collected retrospectively from 4 fetal
medicine centers, and first-trimester biparietal diameter measurements were
reviewed. The diagnosis of holoprosencephaly was established sonographically by
the detection of abnormal choroid plexus morphologic characteristics (absent
"butterfly" sign) and the identification of a monoventricular cerebral cavity on
axial views of the fetal brain. The proportion of fetuses with biparietal
diameter measurements below the 5th percentile for crown-rump length was
determined.
Monni G, Pagani G, Illescas T, Stagnati V, Iuculano A, Ibba RM. Training for transabdominal villous sampling is feasible and safe. Am J Obstet Gynecol. 2015 Aug;213(2):248-50.