Jotterand-Bellomo M, Pescia G, Nguyen The H, Gaide A C, Thonney F, Marguerat P, Pacaud F, Munier F
Division autonome de génétique médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Chuv, Switzerland.
Ann Genet. 1988;31(1):14-20.
In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.
在本报告中，我们介绍了基于妊娠8至12周经宫颈法进行的570例绒毛取样的经验。551份样本获得了细胞遗传学结果，因此失败率为3.33%。通过将孵育期延长至48小时对先前描述的技术进行了改进。异常总数为26例，占我们样本的4.71%。在24例染色体异常中，21例为不平衡型，3例为亲代来源的平衡型。对5例不一致的病例进行了全面讨论。
