title: [Detection of genetic defects by amniocentesis in early pregnancy (author's transl)].
abstract: In the view of the obstetrician the development of prenatal diagnosis of genetic diseases is the consequent continuation of preventive measures for mother and child during prenatal care. In vitro cultivation of fetal cells after amniocentesis in the beginning second trimester enabled the use of those cells for cytogenetic and biochemical analyses. In doing so, chromosomal anomalies, an increasing number of inborn metabolic diseases and open neural tube defects can be detected or excluded in early pregnancy. We are today in a position to encourage carrier families suffering from hereditary defects to have children in cases which have so far been dissuaded from pregnancy. Due to the fact that in approximately 95% of the cases an inborn anomaly can be excluded prenatal diagnosis of congenital defects has got a positive effect on the ongoing pregnancy and over all family planning. Based on our studies of 1000 amniocenteses indications, risks and results are being presented. The diagnostic possibilities of the fetoscopy are being discussed in the light of the first own experiences.
mesh_terms: D000649:Amniocentesis; D002869:Chromosome Aberrations; D046508:Culture Techniques; D005260:Female; D005332:Fetoscopy; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D014465:Ultrasonics
vernacular_title: Die Erkennung von Entwicklungsstörungen in der frühen Schwangerschaft durch Fruchtwasseruntersuchung.