title: [Report of 8 years' experience in the prenatal diagnosis of genetic defects. II. Results].
abstract: From 1113 prenatal diagnoses there were findings in 7.3 per cent indicating an abruptio of pregnancy. Definitely a termination was performed only in 5.3 per cent The birth of 17 children with autosomal trisomies (14 trisomy 21), of 5 children with gonosomal anomalies and of 9 children having neural tube defects could be prevented by prenatal diagnostics. In 2.6 per cent there were chromosomal aneuploidies. One trisomy 21 (0,1 per cent) we did not perceive. Diagnostics indicated by age was followed by pathological findings in 3.9 per cent. In every 25th women exceeding her 40th year of life a trisomy 21 could be detected prenatally. The repetition risk of a morbus Down amounts 0.5 per cent. Parental balanced translocations were hereditary in 42 per cent. In case of diseases hereditary by the X-chromosome a male karyotype could be proved in 36 per cent, but only 65 per cent of these women could determine on interruption of pregnancy. Neural tube defects had a repetition risk of 3.1 per cent. In 0.4 per cent the results of alpha-fetoprotein analyses were false positive. In 9 per cent there was an indication for interruption of pregnancy by amniofetography. But a diagnostic statement is possible after aminofetography only in 79 per cent and after fetocopy in 61.3 per cent. The risk of abortion following aminocentesis is 2.5 per cent (caused by aminocentesis in 0.6 per cent), but following aminofetography 11.2 per cent. In 0.3 per cent there were fetal injuries, among these one serious fetal cranial trauma developing into hygroma.
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000517:prevention & control; D025063:Chromosome Disorders; D005260:Female; D005332:Fetoscopy; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D009436:Neural Tube Defects / Q000175:diagnosis; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D012306:Risk; D012729:Sex Chromosome Aberrations / Q000175:diagnosis
vernacular_title: Erfahrungsbericht über 8 Jahre pränatale Diagnostik genetischer Defekte. II. Mitteilung: Ergebnisse.