Leschot N J, Wolf H, Verjaal M, van Prooijen-Knegt L C, de Boer E G, Kanhai H H, Christiaens G C
Department of Human Genetics, University of Amsterdam, The Netherlands.
Br Med J (Clin Res Ed). 1987 Aug 15;295(6595):407-10. doi: 10.1136/bmj.295.6595.407.
The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used, karyotyping being successful in 481 cases (96.2%). The main indication for sampling was maternal age over 36 (412 cases; 82.4%). Abnormal laboratory findings resulted in 24 terminations of pregnancy (4.8%); in addition five unexpected balanced chromosome rearrangements were detected. Twelve of 15 cytogenetic discrepancies were detected at amniocentesis, two after termination, and one at spontaneous abortion. Complete follow up data were available for the first 250 patients, among whom nine pregnancies (3.6%) ended in spontaneous abortion before the 20th week. There were no false negative findings. Seventy additional chromosome studies were performed because of failure of chorionic villi sampling or equivocal results, or for confirmation. Counselling before chorionic villi sampling should include the possibility that subsequent amniocentesis may be needed should mosaicism or other unexpected abnormalities be found. The success rate and accuracy of karyotyping chorionic villi samples by the direct method are acceptable but distinctly less than those of karyotyping cultured amniotic fluid cells.
对500例进行绒毛取样的妊娠病例的细胞遗传学结果进行了分析。所有病例均采用直接法，481例（96.2%）核型分析成功。取样的主要指征是孕妇年龄超过36岁（412例；82.4%）。异常实验室检查结果导致24例终止妊娠（4.8%）；此外，还检测到5例意外的平衡染色体重排。15例细胞遗传学差异中有12例在羊膜穿刺术时检测到，2例在终止妊娠后检测到，1例在自然流产时检测到。前250例患者有完整的随访数据，其中9例妊娠（3.6%）在孕20周前自然流产。无假阴性结果。因绒毛取样失败、结果不明确或为进行确认，另外进行了70次染色体研究。绒毛取样前的咨询应包括，如果发现嵌合体或其他意外异常，可能需要随后进行羊膜穿刺术。直接法对绒毛样本进行核型分析的成功率和准确性是可以接受的，但明显低于对培养的羊水细胞进行核型分析的成功率和准确性。
