Cadkin A V, Ginsberg N A, Pergament E, Verlinski Y
Radiology. 1984 Apr;151(1):159-62. doi: 10.1148/radiology.151.1.6701308.
Chorionic villi sampling (CVS) was performed on 22 patients who were at risk for a variety of genetic disorders between 8.5-11 weeks of gestation to determine whether the developing fetus had a chromosomal and/or biochemical disorder. A thin Portex catheter was passed transcervically into the chorion frondosum under constant real-time ultrasound guidance, and chorionic villi were obtained by gentle suction. The villi, which have the same genotype as the fetus, were processed directly for chromosomal and/or biochemical analysis. Results were available within six to 24 hours and were confirmed by short term cell cultures within three to ten days. One fetus affected with Tay-Sachs disease and one fetus with trisomy 16 were detected. There were no instances of fetal loss or major complications. In contrast to amniocentesis, the procedure is performed early in pregnancy and results of the genetic testing are available during the first trimester, which allows a first trimester termination of pregnancy if an abnormality is detected and greatly reduces parental anxiety if the findings are normal. We believe that CVS offers an alternative to amniocentesis in the detection of genetic disorders.
对22例在妊娠8.5至11周之间有患各种遗传疾病风险的患者进行了绒毛取样（CVS），以确定发育中的胎儿是否患有染色体和/或生化疾病。在实时超声持续引导下，将一根细的波特克斯导管经宫颈插入叶状绒毛膜，通过轻柔抽吸获取绒毛。与胎儿具有相同基因型的绒毛直接进行染色体和/或生化分析。结果在6至24小时内可得，并在三至十天内通过短期细胞培养得到证实。检测到1例患泰-萨克斯病的胎儿和1例16三体胎儿。未发生胎儿丢失或重大并发症的情况。与羊膜穿刺术不同，该操作在妊娠早期进行，基因检测结果在孕早期即可获得，这使得如果检测到异常可在孕早期终止妊娠，并且如果结果正常可大大减轻父母的焦虑。我们认为绒毛取样在遗传疾病检测中为羊膜穿刺术提供了一种替代方法。
