Prenatal Diagnosis of Fetal Malformations by Ultrasound

Prenatal detection of fetal anomalies is considered to be an important goal of obstetric care and in many countries fetal ultrasound is an established part of routine care. This chapter provides an overview of the prenatal diagnosis of some of the most common malformations and their associated abnormalities. Neural tube defects develop when a part of the neural tube fails to close before 5 weeks of gestation. The prenatal detection rate is positively influenced by appropriate training and the application of a standardized protocol. One of the most frequent genetic syndromes associated with encephalocele is Meckel-Gruber syndrome. The sonographic findings in Dandy-Walker malformation are an enlarged fossa posterior with hypoplasia of the cerebellar vermis, dilatation of the fourth ventricle and a persistent Blake’s pouch cyst. Congenital pulmonary airway malformation is a mass of abnormal fetal lung tissue that forms in pregnancy. Congenital heart disease is the most common congenital malformation.