The fetal central nervous system can already be examined in the first trimester of pregnancy. Acrania, alobar holoprosencephaly, cephaloceles, and spina bifida can confidently be diagnosed at that stage and should actively be looked for in every fetus undergoing first-trimester ultrasound. For some other conditions, such as vermian anomalies and agenesis of the corpus callosum, markers have been identified, but the diagnosis can only be confirmed in the second trimester of gestation. For these conditions, data on sensitivity and more importantly specificity and false positives are lacking, and one should therefore be aware not to falsely reassure or scare expecting parents based on first-trimester findings. This review summarizes the current knowledge of first-trimester neurosonography in the normal and abnormal fetus and gives an overview of which diseases can be diagnosed.

Sonographic detection of central nervous system defects in the first trimester of pregnancy.

Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. According to current recommendations for first-trimester ultrasound, the fetal head structures that should be visualized are limited to the cranial bones, the midline falx and the choroid-plexus-filled ventricles. Using this basic approach, almost all cases of acrania, alobar holoprosencephaly and cephalocele are detected. However, the majority of other fetal brain abnormalities remain undiagnosed until the midtrimester. Such anomalies would be potentially detectable if the sonographic study were to be extended to include additional anatomic details not currently included in existing guidelines. The aim of this review article is to describe how best to assess the normal fetal brain by first-trimester expert multiplanar neurosonography and to demonstrate the early sonographic findings that characterize some major fetal brain abnormalities. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

First-trimester fetal neurosonography: technique and diagnostic potential.

Ultrasound Screening of Fetal Anomalies at 11–13+6 Weeks

Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, occipital meningoencephalocele). This case highlights the presence of MKS in a young female without family history.

A rare case of Meckel-Gruber syndrome

Introduction:Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is “Poretti-...

https://journals.sagepub.com/doi/pdf/10.1177/1179547620948666

Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

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.

Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases

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Sonographic spectrum of first-trimester fetal cephalocele: review of 35 cases