Department of Pathology, Columbia University, New York, NY, USA.
Prenat Diagn. 2011 Aug;31(8):755-9. doi: 10.1002/pd.2759. Epub 2011 Apr 11.
Cytogenetic analysis of spontaneous abortions is frequently complicated by culture failure and maternal cell contamination (MCC). The objective of the study is to demonstrate that multiplex fluorescence in situ hybridization (FISH) can increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
A multiplex interphase FISH probe set was used to analyze two sample sets. (1) Uncultured tissues from 153 abortions samples with a normal 46,XX karyotype and (2) a series of 171 samples that either failed to grow or were contaminated. MCC studies were performed on 70 cultures where both karyotype and FISH indicated a normal female karyotype.
FISH showed 31% (53/171) of the specimens karyotyped as 46,XX were either male or abnormal; 23% (40/118) of these specimens were found to have an abnormal chromosome complement. In specimens with culture failure, FISH showed an abnormal complement in 44.4% (68/153). MCC studies showed 41.49% (29/70) cultures of maternal origin, 45.7% (32/70) fetal, 11.4% (8/70) a maternal/fetal mixture and 1 diploid mole.
Results demonstrate the utility of a simple FISH panel in increasing the detection rate of abnormal karyotypes. They also reveal the high frequency of overgrowth of maternal cells in cultured specimens from villi after embryonic loss.
自发流产的细胞遗传学分析经常受到培养失败和母体细胞污染（MCC）的影响。本研究旨在证明多重荧光原位杂交（FISH）可以提高自发流产标本的核型产量和准确性。
使用多重间期 FISH 探针组分析了两个样本组。（1）153 个正常 46,XX 核型自发流产样本的未培养组织；（2）一系列 171 个未能生长或被污染的样本。对 70 个核型和 FISH 均显示正常女性核型的培养物进行了 MCC 研究。
FISH 显示 31%（53/171）经核型分析为 46,XX 的标本为男性或异常；其中 23%（40/118）的标本染色体核型异常。在培养失败的标本中，FISH 显示 44.4%（68/153）的标本存在异常染色体组成。MCC 研究显示 41.49%（29/70）的培养物为母体来源，45.7%（32/70）为胎儿来源，11.4%（8/70）为母体/胎儿混合物，1 例为二倍体葡萄胎。
结果表明，简单的 FISH 面板可提高异常核型的检测率。它们还揭示了胚胎丢失后绒毛培养标本中母体细胞过度生长的高频率。
