Introduction In 1866, Down first reported an accumulation of excessive skin in individuals with trisomy 21. In the early to mid-1990s, ultrasound (US) evaluation in the first trimester revealed an accumulation of subcutaneous fluid behind the fetal neck that could…
Introduction Pregnancy is an inefficient process. A large proportion of early pregnancies end in miscarriage or early pregnancy failure. Ectopic pregnancies (EP), those located outside of the proper uterine location, cause significant maternal morbidity and mortality. It is the role…
Introduction Ventriculomegaly (VM) is a nonspecific term, describing dilatation of the lateral cerebral ventricles, usually defined as greater than 10 mm at the level of the atria. VM is the most frequent abnormal central nervous system (CNS) finding detected with prenatal…
Introduction Cerebral vascular malformations are rare but potentially disastrous abnormalities. Aneurysm of the vein of Galen is the most common abnormality described in prenatal series. Other types of intracranial vascular malformations are diagnosed prenatally only rarely. In the neonatal period,…
Introduction Neural tube defects (NTD) are the consequence of a failure in the closure of the neural tube, and differ depending on their localization and extent. The term “neural tube defects” includes defects of the cranial vault, including the spectrum…
Introduction Destructive cerebral lesions are not embryonic malformations, but rather the result of an insult to a normally developed fetal brain. The most common causes are hemorrhage, hypoxia-ischemia, and infections, but the pathophysiology is unclear in many cases. The prognosis…
Introduction Holoprosencephaly (HPE) has been known since antiquity through the figure of the cyclopean shepherd Polyphemos in Homer's Odyssey (circa 800 bc ). Until the 17th century, a cyclopic newborn, whether it was a human or an animal, was associated…
Introduction Walker-Warburg syndrome (WWS) is a rare, lethal congenital diffuse neurodysplasia, characterized by variable ocular and cerebral abnormalities. Cerebral findings include ventriculomegaly, encephalocele, and Dandy-Walker malformation. Ocular findings are varied, may occur in the posterior or anterior segments of the…
Introduction The fetal cerebellum develops throughout pregnancy and may be visualized starting from the first trimester. By the seventh week of gestation, the rhombencephalic vesicle, the precursor of the fourth ventricle and cisterna magna, is the most prominent structure of…
Introduction Cortical neuronal cell development starts at about 7 weeks' gestation from stem cells in the germinal matrix that line the ventricles. The stem cells proliferate and differentiate into glial cells and neurons. The glial cells migrate radially to the…