Leschot N J, Kanhai H H, van Asperen C J, Wolf H, Boer K, van Prooijen-Knegt A C, Christiaens G C, Verjaal M, Briet E
Department of Human Genetics, University of Amsterdam, The Netherlands.
Clin Genet. 1990 Sep;38(3):211-7. doi: 10.1111/j.1399-0004.1990.tb03572.x.
Seventy-five selective terminations, based on abnormal laboratory findings at first-trimester CVS, were performed in 1581 consecutive pregnancies. In all cases a (semi-) direct method of cytogenetic analysis was used. The 75 abortions were analysed in number of ways. Confirmatory studies showed that three cases had to be considered as false-positive findings, and in one other case the results were inconclusive. Based on literature data, it was estimated that 41 of the 75 pregnancies would have resulted in seriously handicapped children, surviving beyond the age of 1 year, if no termination of pregnancy had taken place. Negative side-effects of the procedure include: spontaneous abortion of chromosomally normal fetuses due to the CVS procedure itself and the need for a number of secondary amniocenteses (5.1%). The advantage of DNA diagnosis in X-linked diseases is illustrated by comparing the CVS results with a previously published amniocentesis study.
在1581例连续妊娠中，基于孕早期绒毛取样（CVS）时异常的实验室检查结果进行了75例选择性终止妊娠。所有病例均采用（半）直接细胞遗传学分析方法。对这75例流产病例进行了多种方式的分析。验证性研究表明，有3例必须被视为假阳性结果，另有1例结果不确定。根据文献数据估计，如果未进行妊娠终止，这75例妊娠中有41例会导致严重残疾儿童存活至1岁以后。该手术的负面副作用包括：由于CVS手术本身导致染色体正常胎儿自然流产，以及需要进行多次二次羊膜穿刺术（5.1%）。通过将CVS结果与之前发表的羊膜穿刺术研究结果进行比较，说明了DNA诊断在X连锁疾病中的优势。
