[Chorionic biopsy in prenatal chromosome diagnosis].
This paper reports on 110 chromosome analyses of prenatal diagnosis after chorion biopsy. Normal findings were recorded in 105 cases (51 female, 54 male), and 5 chromosomic abnormalities were found, including triploidy, rarely to be observed in the second trimester, and a trisomy 8. Both direct preparation and long-term cultures were employed for chromosome diagnosis. With long-term cultures, three mosaic findings were recorded that were not confirmed in subsequent examinations of amniotic cells. The observation of certain cells with female karyotype in a long-term culture with otherwise definitely male karyotype illustrates the necessity of polymorphic comparison in order to exclude maternal contamination in the analysis of long-term cultures.
D000028:Abortion, Induced; D000328:Adult; D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology*; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations / Q000473:pathology; D014178:Translocation, Genetic; D014960:X Chromosome
Chorionbiopsie in der pränatalen Chromosomendiagnostik.