Antenatal Diagnosis and Genetic Counseling

Abstract

Antenatal diagnosis plays a major role in management of surgical problems of the fetus. Diagnostic testing in the antenatal period offers parents the option of avoiding the physical suffering and emotional trauma that may occur during the birth of a child with a severe, debilitating illness. Along with diagnosis, a good antenatal counseling reduces parents' stress and assists them to prepare for the hardship of a complicated pregnancy. Various medical and surgical anomalies involving wide range organ systems can be diagnosed antenatally. Antenatally diagnosed congenital surgical anomalies are usually first brought to the notice of the obstetrician who decides the fate of the fetus. Eighty percent of these fetuses are terminated at the level of the obstetrician. These include anencephaly, neural tube defects, polycystic kidneys, gastroschisis and omphalocele where the decision is unequivocal. On the contrary these also include few cases of minor anomalies like unilateral multicystic kidney, unilateral hydronephrosis and cleft lip where the decision of a pediatric surgeon would be to continue the pregnancy. There seems to be a huge scope for fetal therapy and this seems to be particularly possible in certain surgical conditions which are easily accessible with risk of fetal mortality being less (eg. abdominal wall defects). Antenatal diagnosis of various surgical conditions like abdominal wall defects and diaphragmatic abnormalities (eg. Congenital diaphragmatic hernia - CDH) allows early planning of management by a group of specialists including obstetricians, neonatologists, pediatric surgeons, and geneticists. This article discusses various aspects of antenatal diagnosis and counseling, focusing on the surgical aspects along with current status of fetal therapy for various surgical conditions.