Cheung S W, Crane J P, Beaver H A, Burgess A C
Department of Obstetrics & Gynecology Washington University School of Medicine, St. Louis, Missouri 63110.
Prenat Diagn. 1987 Oct;7(8):535-42. doi: 10.1002/pd.1970070802.
While chorionic villus sampling allows both early and rapid prenatal diagnosis of chromosome disorders, the accuracy of this technique has not been fully established. Maternal cell contamination and pseudomosaicism represent two major sources of diagnostic error. Combined use of both direct chromosome preparations and villus cultures is important in overcoming these problems. Direct preparations of villus tissue allow recognition of maternal cell contamination of villus cultures. Conversely, villus cultures yield higher resolution chromosomes and may be helpful in differentiating between true versus pseudomosaicism when two or more cell lines are identified in direct chromosome preparations. Preliminary data suggest that analysis of direct preparations from multiple individually processed villus fragments may also be of value in this regard. Until more experience is gained, mid-trimester amniocentesis should be offered to CVS patients when mosaicism is encountered.
虽然绒毛取样可实现染色体疾病的早期快速产前诊断，但该技术的准确性尚未完全确立。母体细胞污染和假嵌合体是诊断错误的两个主要来源。联合使用直接染色体制备和绒毛培养对于克服这些问题很重要。绒毛组织的直接制备可识别绒毛培养中的母体细胞污染。相反，绒毛培养可产生分辨率更高的染色体，当在直接染色体制备中鉴定出两个或更多细胞系时，可能有助于区分真嵌合体与假嵌合体。初步数据表明，对多个单独处理的绒毛片段进行直接制备分析在这方面可能也有价值。在积累更多经验之前，当遇到嵌合体时，应向绒毛取样患者提供孕中期羊膜穿刺术。
