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目的通过对近5年佛山地区羊水细胞染色体异常核型产前诊断指征分析,探讨产前诊断指征在预防出生缺陷的价值。方法回顾2010年1月至2015年12月在我院因产前血清筛查高风险、超声检查疑胎儿染色体异常等原因行产前诊断的胎儿染色体核型分析。结果 9688例产前诊断中发现胎儿染色体异常716例,染色体异常检出率7.4%。其中性染色体异常23例、性染色体异常23例、18三体38例、21三体142例、13三体10例、易位28例等。9688例中因胎儿发育异常为指征有876例,唐氏高风险3740例,年龄高风险1549例。结论孕期的产前血清筛查是预防出生缺陷的有效措施,年龄≥35岁的孕妇直接行产前诊断仍是有必要的,血清筛查的单项中倍数值异常增高、胎儿结构异常和超声软指标与染色体异常有较高的相关性。
Objective To investigate the prenatal diagnosis of chromosomal abnormalities in amniotic fluid cells in Foshan area in recent 5 years and to explore the value of prenatal diagnosis in preventing birth defects. Methods From January 2010 to December 2015 in our hospital for prenatal serum screening for high risk, ultrasound examination suspected fetal chromosomal abnormalities and other reasons prenatal diagnosis of fetal chromosomal karyotype analysis. Results A total of 768 cases of prenatal diagnosis of fetal chromosome abnormalities were found in 716 cases, the detection rate of chromosomal abnormalities was 7.4%. There were 23 cases of chromosomal abnormalities, 23 cases of sex chromosome abnormalities, 38 cases of 18 trisomy, 142 cases of trisomy 21, 10 cases of trisomy 13 and 28 cases of translocation. 9688 cases of fetal development due to abnormal indications for 876 cases, Down’s high-risk 3740 cases, 1549 cases of high age risk. Conclusion Prenatal serum screening during pregnancy is an effective measure to prevent birth defects. It is still necessary for prenatal diagnosis of pregnant women over 35 years of age. An abnormal increase of single intermediate multiple of serum screening, abnormal fetal structure and ultrasound soft Indicators and chromosomal abnormalities have a higher correlation.