Serious birth defects, often genetically determined, complicate and th
reaten the fives of 3% of newborn infants. These disorders account for
20% of deaths during the newborn period and an even higher percentage
of serious morbidity in infancy and childhood. The cost of neonatal i
ntensive care is staggering. Higher still are the costs of rehabilitat
ion programs for the severely handicapped. Birth defects that go undia
gnosed until late in pregnancy have immeasurable and tragic effects on
the family. With the growing recognition of the frequency and importa
nce of congenital disorders and with current social trends toward smal
ler families and delays in childbearing, prenatal diagnosis is importa
nt in the management of many pregnancies. This monograph reviews gener
al indications for prenatal diagnosis, maternal serum screening, indiv
idual prenatal diagnosis procedures, ultrasound screening and targeted
ultrasound, and newer applications currently under investigation.