[Prenatal recognition of genetic diseases and neural tube defects]. / Pränatale Erfassung von Erbleiden und Neuralrohr-defekten.

ABSTRACT

A growing number of metabolic genetic defects can be diagnosed prenatally; however, the most common genetic diseases defy our efforts so far. Promising new avenues are mentioned. Efforts to diagnose neural tube defects in early pregnancy have gained wide acceptance. The most widely used method is alpha-fetoprotein (AFP)-determination in amnion fluid supplemented by ultrasound examination and particularly successfully by the ACHE-(acetyl-cholinesterase)gel test. In many countries, a general introduction of AFP-screening in maternal serum for neural tube defects is being considered. Two large field studies, each including some 24,000 patients, will soon be completed in Giessen and Hannover. They were designed to supplement the data from Great Britain in judging the advisability of mass screening of maternal serum AFP in the second trimenon in a low-incidence area such as Western Germany. The concluding discussion touches on future aspects of prenatal diagnosis and ethical considerations.