Eiben B, Goebel R, Hansen S, Hammans W
Institut für Klinische Genetik und Frauenklinik, Evangelisches Krankenhaus Oberhausen, Germany.
Prenat Diagn. 1994 Jun;14(6):497-501. doi: 10.1002/pd.1970140615.
We report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14.5 days. Karyotyping was successful in 99.7 per cent of cases. In 9.9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X-chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0.5 per cent. The overall aberration rate was 2.8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).
我们报告了在妊娠11至14周期间进行的1554例早期羊膜穿刺术的细胞遗传学经验，其中44%是在14周之前进行的。平均培养时间为14.5天。99.7%的病例核型分析成功。在9.9%的病例中，存在假嵌合体，X染色体丢失率高且1号染色体有结构畸变，这可能归因于Chang培养基。嵌合率为0.5%。总体畸变率为2.8%。我们的数据证实了早期羊膜穿刺术的可靠性，它是标准羊膜穿刺术和绒毛取样（CVS）的一种重要替代方法。
