Waldo Sepulveda

Objective: 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. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

What's already known about this topic? Ectopia cordis is a rare, almost invariably lethal, condition that can be readily diagnosed by prenatal sonography. The prenatal diagnosis of ectopia cordis before 9 weeks has not been reported. What does this study add? This series of three cases documents, the earliest diagnosis of ectopia cordis reported to date. Ectopia cordis seems to be associated with a high lethality rate in early embryos, suggesting that this condition could be more frequent than previously reported.

Objective: The objective of this study was to describe the prenatal sonographic and magnetic resonance imaging (MRI) findings, antenatal course, and pregnancy outcome in fetuses diagnosed as having thrombosis of the torcular herophili.Methods: Retrospective review of cases collected from five fetal medicine referral centers.Results: Eight cases that were prenatally diagnosed by ultrasound between 22 and 32 weeks of gestation were reviewed. Seven cases were further evaluated with fetal MRI. Associated findings included torcular and superior sagittal sinus dilatation in all cases and ventriculomegaly in two (25%) cases. Serial sonographic follow‐up scans demonstrated a favorable antenatal course with complete resolution before delivery in four (50%) cases. Postnatal follow‐up from 6 months to 5 years revealed normal outcome in four (50%) infants, speech disabilities in three (38%), and mild neurodevelopmental delay in the remaining case (13%).Conclusions: Prenatal sonography is an effective method for diagnosing and monitoring thrombosis of the torcular herophili. As a complementary technique, fetal MRI can provide additional information to rule out cerebral parenchymal lesions secondary to hypoperfusion and associated brain malformations. According to our experience, the thrombus almost invariably resolves over time, although mild neurologic disabilities are frequent on long‐term follow‐up. © 2014 John Wiley & Sons, Ltd.

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.Results: Among 45 cases of holoprosencephaly reviewed, 43 had information on both biparietal diameter and crown‐rump length measurements. The biparietal diameter was below the 5th percentile for crown‐rump length in 14 (32.6%) fetuses. Chromosomal analysis was available in 41; no statistically significant difference in biparietal diameter measurement between those with associated chromosomal anomalies and those without anomalies was noted. A supplementary analysis using head circumference measurement showed an even greater proportion of fetuses with holoprosencephaly with measurements below the 5th percentile for crown‐rump length (18 of 42 [42.9%]).Conclusions: One‐third of first‐trimester fetuses with a sonographic diagnosis of holoprosencephaly had a biparietal diameter that was smaller than expected for crown‐rump length. In this subset of fetuses, the evaluation of intracranial anatomy for signs of holoprosencephaly may be more difficult to perform due to the smaller size of the brain. Therefore, the detection of a biparietal diameter below the 5th percentile as expected from crown‐rump length on the first‐trimester scan may be a warning sign of holoprosencephaly and should prompt a detailed examination of the intracranial anatomy.

Objective: To examine the feasibility and accuracy of fetal nasal bone (NB) assessment in the retronasal triangle (RNT) view for aneuploidy screening in the first trimester of pregnancy.Methods: Consecutive women with singleton pregnancies undergoing sonographic screening at 11–13 weeks' gestation were prospectively evaluated. In all cases, assessment of the NB by using the RNT view was attempted and classified as present (if one or both of the NBs were clearly seen) or absent/hypoplastic (if the NB was not visualized or if it was small and less echogenic than the surrounding bones). The detection rate of fetal karyotypic abnormalities by the assessment of the NB in the RNT view was calculated.Results: In total, 1977 women were scanned. The RNT was successfully examined in 1970 fetuses (99.6%). Fetal outcome was available in 1767 (89.7%) of evaluated cases, and of these, 39 (2.2%) cases of aneuploidy were documented (trisomy 21, n = 17; trisomy 18, n = 8; trisomy 13, n = 5; Turner syndrome, n = 5; and triploidy, n = 4). The prevalence of absent/hypoplastic NB was 12/1728 (0.7%) in chromosomally normal fetuses and 12/17 (70.6%) in trisomy 21 fetuses. Sensitivity, specificity and positive and negative predictive values of absent/hypoplastic NB for trisomy 21 were 70.6%, 99.3%, 50.0% and 99.7%, respectively. The positive and negative likelihood ratios of NB assessment were 101 (95% CI, 53–193) and 0.3 (95% CI, 0.14–0.62), respectively.Conclusions: The RNT view is a useful technique for assessing the NB during the first trimester of pregnancy. With this new approach, performance of absent/hypoplastic NB as a marker of aneuploidy, mainly trisomy 21, appears to be similar to that previously reported by using the mid‐sagittal plane. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd

Objective: The aim of this study was to determine whether choroid plexus morphology (‘butterfly’ sign) and biparietal diameter (BPD) are effective sonographic screening tools for holoprosencephaly (HPE) in the first trimester.Methods: An axial view of the fetal head was obtained routinely to determine the presence of the ‘butterfly’ sign in pregnancies presenting for sonographic screening at 11–13 weeks of gestation. The same view was also used to obtain BPD measurements. The definitive diagnosis of HPE was established by the sonographic demonstration of an anterior cerebral monoventricular cavity and thalamic fusion.Results: During a 9‐year study period, 11 068 live fetuses were screened. There were 11 cases of HPE (prevalence 1/1006); all of them were detected by demonstration of an absent ‘butterfly’ sign with no false‐positive cases. The BPD was less than the 5th percentile in 40% of the cases.Conclusions: The ‘butterfly’ sign appears to be a highly sensitive marker for HPE in the first trimester. On the other hand, BPD measurements had a lower sensitivity, implying that microcephaly is not a prominent first‐trimester feature in these cases. Incorporation of the ‘butterfly’ sign into the first trimester anatomy scan is simple and can facilitate the identification of the vast majority of fetuses with HPE in the first trimester. © 2013 John Wiley & Sons, Ltd.