ABSTRACT

The advances in the technology of prenatal diagnosis have made great changes in the management of fetal abnormality. The pregnant woman expects a normal and healthy baby. In the past, only the high-risk women were offered prenatal diagnostic tests or ultrasound examination to detect fetal abnormalities. Now, various screening tests and ultrasound examinations are available to exclude fetal abnormalities even in low-risk women. Screening tests using serum markers and nuchal thickness are commonly performed in many parts of the world to screen for Down syndrome. Routine ultrasound examination has been incorporated in many antenatal care programs to look for fetal structural abnormalities. As a result, more and more abnormal fetuses can be detected before viability. In the past, most of the fetal abnormalities were diagnosed in the second trimester. Now, the availability of first trimester serum screening and late first trimester ultrasound screening has made the detection of many fetal abnormalities possible at the late first trimester. While some of the fetal abnormalities may be amenable to prenatal therapy, most of the others will either be fatal or result in the delivery of babies with severe handicaps. Therefore, the majority of these women may have to make a decision on termination of pregnancy when they face the diagnosis of fetal anomaly.