The future in prenatal diagnosis.

Abstract

renatal identification of untreatable genetic and congenital disorders is a successful preventive medical approach that is likely to be with us for some time to come. Although the current invasive procedures of chorionic villus sampling (CVS), amniocentesis (AC), and fetal cord blood sampling allow fetal diagnosis from as early as 6 weeks’ gestation through the remainder of pregnancy, some physicians have searched for even earlier or less invasive methods. The earlier CVS effectively deals with the issue of safety and convenience of pregnancy termination if needed, but there is still the individual and societal issues of abortion or pregnancy termination involved in this event. In addition, all of these fetal diagnostic procedures carI-y a minimal I-isk of miscarriage, require considerable operator expertise, and are therefore not available on a widespread basis. It does not seem likely that any of them will serve as “screening” tests or become uniformly applied in all pregnancies. What, 11~11, are the future prospects for fetal diagnostic approaches to avoid these difficulties? duction” of affected fetuses should leave at least one viable normal fetus in the majority of pregnancies. Although termination is still involved, the pregnancy would continue and the outcome perhaps be more acceptable. Beyond that modification of the current invasive approach, only the use of IVF technology will produce diagnostic results earlier with a reasonable opportunity for a viable pregnancy following.