Wirtz A, Gloning K P, Murken J
Abteilung für pädiatrische Genetik, Kinderpoliklinik der Universität München, Germany.
Prenat Diagn. 1991 Aug;11(8):563-7. doi: 10.1002/pd.1970110812.
Among 1547 patients undergoing first-trimester prenatal diagnosis, 100 fetal chromosome aberrations were detected. Thirteen of these involved chromosome 18. In two structural abnormalities of chromosome 18, the aberration could be excluded in amniotic fluid cells and two healthy infants were born. Trisomy 18 was not confirmed in amniotic fluid cells in three trisomy 18 mosaics. In eight non-mosaic trisomy 18 first-trimester diagnoses, the diagnosis was excluded by amniotic fluid cells or fetal cultures in four, and confirmed in the remaining four. Diagnosis of chromosome 18 aberrations in the direct preparation should be confirmed in the long-term culture of the chorionic villus sample or by amniotic fluid cultures.
在1547例接受孕早期产前诊断的患者中，检测到100例胎儿染色体异常。其中13例涉及18号染色体。在18号染色体的两个结构异常中，羊水细胞中可排除该异常，且出生了两名健康婴儿。在3例18三体嵌合体中，羊水细胞未证实为18三体。在8例非嵌合型18三体孕早期诊断中，4例经羊水细胞或胎儿培养排除诊断，其余4例得到证实。直接制片中18号染色体异常的诊断应通过绒毛取样的长期培养或羊水培养来确认。
