摘要
目的通过对高龄孕妇羊水细胞染色体核型分析，探讨高龄孕妇胎儿染色体异常的发生率。方法回顾性分析2008年1月-2014年3月在新疆乌鲁木齐妇幼保健院行妊娠中期羊膜腔穿刺术及羊水染色体核型分析的2442例高龄孕妇的病例资料，计算胎儿染色体异常的发生率。结果共检出76例胎儿染色体异常，发生率为3．12％，包括常染色体数目异常34例，其中21三体28例、18三体6例，性染色体数目异常（含嵌合体）8例，结构异常34例，其中倒位19例，易位14例，缺失1例，染色体多态97例，多态率3．97％。结论高龄孕妇胎儿染色体异常以13、18、21号染色体和性染色体数目异常为主，对高龄孕妇进行羊水细胞染色体核型分析能有效的诊断胎儿染色体病，是减少染色体异常胎儿出生的必要手段。
Objective： Through the amniotic fluid cells karyotype analysis of women of advanced maternal age, to investigate the incidence of abnormal fetal chromosome of women of advanced maternal age. Methods： The amniocentesis and karyotyping results in Xinjiang Urumqi maternal and child health care hospital ftom January 2008 to March 2014 were retrospectively analyzed, the incidence of 2442 cases of abnormal fetal chromosome of women of advanced maternal age were calculated. Results： There were 76 cases were diagnosed to be abnormal chromosome, the overall incidence was 3.12%. 34 cases were found with autosomal chromosomal numerical abnormality, including 28 cases of trisomy 21 and 6 cases of trisomy 18, 8 cases with sex chromosomal numerical abnormality （mosaicism included） ; 34 cases were found with chromosomal structural abnormality, including 19 cases of pericentric inversion, 14 cases of balanced translocation 1 cases of deletion; 97 cases of chromosome polymorph, the chromosome polymorphism rate was 3.97%. Conclusions： The main fetal chromosomal abnormalities in women of advanced maternal age are the numerical abnormality of chromosome 21, 18, 13 and sex chromosomes, so amniotic fluid cells karyotype analysis can effectively diagnosis of fetal chromosome disease for women of advanced maternal age, it is a necessary way to minimize chromosomal abnormalities of fetal birth.
出处
《中国优生与遗传杂志》
2016年第2期50-52,共3页
Chinese Journal of Birth Health & Heredity
关键词
高龄孕妇
羊水细胞
核型分析
染色体异常
Women of advanced maternal age
Amniotic fluid cells
Karyotyping
Chromosomal abnormality
