Prenatal Diagnosis of Congenital Malformations

Abstract

The convergence of progress in genetic and radiographic methods for prenatal diagnosis now makes it possible to diagnose most congenital anomalies early in gestation. Thus, it is now possible to accurately counsel affected families about their prognosis and to plan for appropriate perinatal care using a multidisciplinary team approach. In rare cases of severe or fatal anatomic abnormalities, fetal intervention may be offered by experienced centers. In this chapter, we discuss common prenatal diagnostic tools as well as the management strategies for patients with surgical diseases such as neck masses, congenital diaphragmatic hernias (CDH), lung masses, sacrococcygeal teratomas (SCTs), and myelomeningocele. There are strategies that have been developed through decades of experience with animal models and collaborative analysis of clinical outcomes worldwide. Our understanding of the underlying disease processes that contribute to prognosis is rapidly evolving and will continue to refine the current recommendations for these patients.