摘要
目的 分析妊娠中期孕妇羊水细胞异常染色体核型,探讨各产前诊断指征在产前诊断中的临床价值.方法 回顾性分析在本院因各种原因行羊膜腔穿刺产前诊断的胎儿染色体核型.结果 总共348例产前诊断产妇中检出胎儿染色体异常22例,染色体异常检出率6.3 %,染色体数目异常和结构异常检出比例分别为2.6 %（9/348）和3.7 %（13/348）;产前诊断指征为B超示胎儿畸形和夫妇染色体易位者胎儿异常核型检出的比例较高,分别为50.0 %和33.3 %,其它产前诊断指征者胎儿异常核型检出比例在5.1 %～6.5 %之间;染色体倒位、21-三体综合征、染色体易位分别检出7、5、3例.结论 B超提示胎儿畸形和夫妇一方染色体异常者胎儿异常核型检出的比例较高;染色体倒位、21-三体综合征、染色体易位是产前诊断细胞遗传学检查中常见的异常核型.
Objective To assess clinical value of indications for prenatal diagnosis through amniocentesis at the second trimester. Methods Karyotyping was performed according to standardized procedures and detection rate by reasons for the referral to amniocentesis were analyzed. Results Of the 348 cases receiving amniocentesis, 22 cases were found with abnormal karyotypes, resulting in a detection rate of 6.3 %. Aneuploidy was found in 9 cases （ 2.6 % ） and chromosome structure abnormality was found in 13 cases （3.7 % ）. Half of the cases with abnormal karyotypes were found in those with abnormal findings in fetal ultrasonography, one-third in those with chromosomal translocations in either of the parents. Around 5.1% - 6.5 % fetuses were found with abnormal karyotypes among those who were referred due to other indications. Chromosome inversions were found in 7 cases, 21-trisomy syndrome in 5 cases, and chromosome translocation in 3 cases. Conclusion Higher rate of fetal karyotype abnormality was found among those with fetal abnormality and parental chromosome abnormality. Common abnormal karyotypes include chromosome inversion, 21 -trisomy syndrome, and chromosome balanced translocation.
出处
《中国生育健康杂志》
2012年第3期185-186,共2页
Chinese Journal of Reproductive Health
关键词
产前诊断
染色体
异常核型
Prenatal diagnosis
Chromosome
Karyotypes abnormality
