Atelosteogenesis Disorders
Abstract Atelosteogenesis (AO) types I, II, and II are a group of usually lethal short-limb skeletal dysplasias. They are characterized by an abnormal, characteristic faces and hypoplastic or very shortened…
Nuchal Translucency
Abstract All women should be offered prenatal screening or diagnostic testing for aneuploidy, regardless of maternal age, but with the increasing number of prenatal screening options now available, deciding which…
Pregnancy of Unknown Location, Early Pregnancy Loss, Ectopic Pregnancy, and Cesarean Scar Pregnancy
Abstract Pregnancy is an inefficient process. A large proportion of early pregnancies end in miscarriage or early pregnancy failure. Ectopic pregnancies, those located outside of the proper uterine location, cause…
Introduction
Keywords osteochondrodysplasias, skeletal dysplasias The skeletal dysplasias or osteochondrodysplasias are a heritable group of more than 450 disorders that affect primarily bone and cartilage, but can also have significant…
Holoprosencephaly
Abstract Holoprosencephaly (HPE) is a heterogeneous central nervous system (CNS) anomaly that results from a primary defect in induction and patterning of the rostral neural tube (basal forebrain), leading to…
Ventriculomegaly
Abstract Dilatation of the lateral ventricles of 10 mm or more is the most frequent sign of possible abnormality detected on antenatal ultrasound. It is not a disease but rather…
Cortical Development and Disorders
Abstract 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…
Intracranial Hemorrhage, Cysts, Tumors, and Destructive Lesions
Abstract Destructive cerebral lesions are the result of an insult to a normally developed fetal brain. The most common causes are hemorrhage, hypoxia-ischemia, and infections. However, the pathophysiology is unclear…
Neural Tube Defects
Abstract Neural tube defects (NTDs) and hemivertebra represent major congenital abnormalities of the cranial vault and the fetal spine. NTDs are the consequence of a failed closure of the cranial…
Septooptic Dysplasia
Abstract Septooptic dysplasia (SOD) is a rare heterogeneous disorder characterized by optic nerve hypoplasia, midline forebrain abnormalities such as agenesis of the corpus callosum and absence of the cavum septi…
