[Applications and limits of prenatal diagnosis (author's transl)].
By means of antenatal diagnosis mainly chromosome aberrations, malformations and inborn errors of metabolism may be recorded. At present there exist four ways for gaining information on the fetus in a pregnant woman: analysis of the amniotic fluid after amniocentesis, fetoscopy, ultrasound diagnosis and analysis of the maternal serum. Prenatal diagnosis becomes necessary in pregnancies where a child suffering from a severe illness or malformation is to be expected. Only if the disorder can be diagnosed by antenatal diagnosis and its severity justifies abortion prenatal diagnosis is to be carried out. Most cases transferred to antenatal diagnosis are pregnancies of women in advanced age because of the increasing risk of carrying a child with Down's syndrome. Another important group is formed by pregnant women with a previous child with Down's syndrome or another chromosomal disorder.
D000328:Adult; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000175:diagnosis; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005332:Fetoscopy; D005817:Genetic Counseling; D006453:Hemoglobinopathies / Q000175:diagnosis; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D014178:Translocation, Genetic; D014960:X Chromosome
Möglichkeiten und Grenzen der Pränataldiagnose.