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目的:探讨因不同指征行产前诊断的孕妇中胎儿染色体异常的类型及出现频率。方法:回顾性分析2004年10月~2009年8月在广西壮族自治区人民医院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型。结果:1 075例产前诊断中发现胎儿染色体异常32例,染色体异常检出率2.97%。其中因唐氏综合征高危行产前诊断者中胎儿染色体异常检出率1.82%;因高龄行产前诊断者中胎儿染色体异常检出率1.82%;因18、13-三体筛查高危行产前诊断者染色体异常检出率1.35%;因畸胎史行产前诊断者中胎儿染色体异常检出率2.70%;因孕早期用胚胎毒性药物行产前诊断者中胎儿染色体异常检出率2.77%;因有自然流产史或本次妊娠有先兆流产而行产前诊断者中胎儿染色体异常检出率均为0;因孕11~14周B超检查示NT值大于2.5 mm行产前诊断者中胎儿染色体异常检出率5.41%;因B超检查示羊水少、胎儿单脐动脉、心室强光斑、胎儿肾盂分离行产前诊断者胎儿染色体异常检出率7.14%;因生育过唐氏综合征患儿行产前诊断者胎儿染色体异常检出率25.00%;因夫妻双方之一为染色体平衡易位行产前诊断者中胎儿染色体异常检出率88.89%;因有生育重型地中海贫血患儿风险行产前诊断者胎儿染色体异常检出率1.35%。结论:除夫妻双方之一为染色体平衡易位及生育过唐氏综合征患儿者外,B超检查示羊水少、胎儿单脐动脉、心室强光斑、胎儿肾盂分离的胎儿中染色体异常检出率高,其次为NT值大于2.5 mm的胎儿,再次为孕早期用胚胎毒性药物、因畸胎史行产前诊断者、孕妇高龄及唐氏综合征高危。孕中期胎儿系统的B超检查,孕11~14周B超测NT值及孕中期血清学唐氏综合征筛查可以从人群中筛查出染色体异常高危胎儿,提高产前诊断的效率,减少出生缺陷儿。
Objective: To investigate the types and frequency of fetal chromosomal abnormalities in prenatal diagnosis of different indications. Methods: A retrospective analysis of fetal chromosomal karyotypes in prenatal diagnosis of amniocentesis or umbilical cord blood puncture in People’s Hospital of Guangxi Zhuang Autonomous Region from October 2004 to August 2009 was conducted. Results: Of the 1 075 prenatal diagnoses, 32 cases of fetal chromosomal abnormalities were detected, and the chromosomal abnormalities were detected in 2.97%. Among them, the detection rate of fetal chromosomal abnormalities in prenatal diagnosis of Down’s syndrome at high risk was 1.82%; the detection rate of fetal chromosomal abnormalities in prenatal diagnosis was 1.82%; the high risk of screening by 18,13-trisomy Prenatal diagnosis of chromosomal abnormalities detection rate of 1.35%; prenatal diagnosis of teratogenic history of fetal chromosomal abnormalities in the detection rate of 2.70%; prenatal diagnosis of fetal prenatal diagnosis of fetal chromosomal abnormalities in preterm detection rate 2.77%; due to a history of spontaneous abortion or this pregnancy threatened abortion and prenatal diagnosis of prenatal diagnosis of chromosomal abnormalities were detected in 0; 11 to 14 weeks of pregnancy B-ultrasound showed NT value greater than 2.5 mm prenatal The detection rate of fetal chromosomal abnormalities in the diagnosis was 5.41%. The detection rate of fetal chromosomal abnormalities in prenatal diagnosis of unilateral umbilical artery, ventricular strong light spot and fetal pelvis separation was 7.14% Children with prenatal diagnosis of prenatal diagnosis of fetal chromosomal abnormalities was detected in 25.00%; because one of the two couples is chromosome-balanced transnational prenatal diagnosis of fetal chromosomal abnormalities was 88.89%; due to reproductive heavy thalassemia Children with prenatal diagnosis of fetal risk line 1.35% detection rate of chromosomal abnormalities. Conclusion: Except for one of the two couples with chromosome balance translocation and children with Down’s syndrome, B-ultrasound showed less amniotic fluid, fetal unilateral umbilical artery, ventricular light spot, fetus pyelogram fetal chromosomal abnormalities were detected Followed by the fetus with an NT value greater than 2.5 mm, once again the embryo toxic drug in the first trimester, the prenatal diagnosis due to the teratogenic history, the advanced age of pregnant women and the high risk of Down’s syndrome. B-ultrasound fetal system during the second trimester, 11 to 14 weeks pregnant B ultrasound NT value and the second trimester serological Down’s syndrome screening can be screening out from the population of high-risk fetal chromosomal abnormalities, improve the efficiency of prenatal diagnosis and reduce Birth defects children.