染色体病的孕早期诊断  

Chromosome Analyses of First Trimester Chorionic Villus Biopsies on 137 of Continuing pregnancies

作　　者：王素桂 沈七英 任国庆 张绍芳[2] 马玉庆[2] 曹淑仪 芦秀清 

机构地区：[1]北京市计划生育技术研究指导所 [2]北京妇产医院

出　　处：《北京医学》1989年第2期70-72,共3页Beijing Medical Journal

摘　　要：本文报道应用孕早期绒毛直接制备染色体进行染色体病的产前诊断共137例,盲取绒毛成功率77.78%(14/18),超声下取成功率91.6%(109/119);染色体诊断成功率94.31%,发现染色体异常12例:6例行人工流产;4例染色体倒位,分娩后婴儿均正常;1例嵌合体者与胎儿核型不符;另1例嵌合体者等待复查羊水。已出生43例婴儿,表型均正常。认为此方法早、快、安全,值得推广。This paper presents a discussion of direct chromosome analysis in 137 cases. The success rates of blind aspiration and aspiration under ultrasound guidance were 77.78% (14/18) and 91.6% (109/119) respectively. Chromosome analyses were completed in 116 cases (94.31%); chromosomal abnormalities were found in 12 instances. Six pregnancies were terminated. Four fetuses which showed chromosomal inversion proved to be normal at the time of birth. A discrepancy was found in one case of mosaicism. Forty three newborns were phenotypically normal.We believe that this technique may become popular because of its ability to offer a quick, safe, and early diagnosis when chromosomal abnormality is considered.

关 键 词：染色体病 产前诊断 孕早期 遗传病 

分 类 号：R714.55[医药卫生—妇产科学]