目的 对2010年6月至2012年2月在广州市妇女儿童医疗中心产前诊断门诊确诊的233例染色体病病例进行回顾分析，初步探讨无创性产前诊断技术的应用前景。方法 2010年6月至2012年2月，广州市妇女儿童医疗中心产前诊断门诊共施行产前诊断穿刺术4225例（包括绒毛穿刺900例、羊水穿刺2345例、脐血穿刺980例），产前诊断指证包括唐氏筛查高风险（21、18、13三体综合征筛查高风险），高龄（≥35岁），NT增厚（NT>3.0mm），胎儿超声结构异常等。产前共检出染色体异常胎儿233例。结果 233例产前诊断为染色体病病例中，79例为21三体综合征（33.9%），18三体综合征29例（12.5%），13三体综合征11例（4.7%）,47例为性染色体异常（20.2%），其中45，X病例20例，占8.6%；另外还有67例为其他染色体异常或染色体病嵌合体（28.8%）。106例唐氏高风险病例中，仅仅45例最终诊断为唐氏综合征（42.5%），14例为18或13三体综合征（13.2%），11例（10.4%）为性染色体异常（包括45，X；47，XXY；47，XXX等），仍有36例为其他染色体异常（34.0%）。结论 目前的无创性产前诊断技术仍不能完全替代现有的介入性的产前诊断技术及唐氏筛查手段。
Objective This is a retrospective study, which mainly analyze our data of 233 cases identified with chromosomal abnormality by prenatal diagnosis in Guangzhou maternal and neonatal hospital. Method From July 2010 to February 2012, 4225 cases of invasive procedure were performed in prenatal diagnosis center in Guangzhou maternal and neonatal hospital, which including 900 chorionic villus sampling, 2345 amniocentesis and 980 cord blood sampling. The indication of prenatal diagnosis include advanced maternal age(age>35), high risk of Down syndrome screening, increased Nuchal Translucency(>3.5mm) and ultrasound abnormalities of fetus. Results From 2010.6 to 2012.2, there are 233 cases of chromosomal abnormalities confirmed by prenatal diagnosis in our clinic. Out of the 233 cases, there are 79 cases of trisomy 21(33.9%), 29 cases of trisomy 18(12.5%), 11 cases of trisomy 13(4.7%) and 47 cases of sex chromosomal abnormalities (20.2%)(including 20 cases of 45, X). other chromosomal abnormalities were also identified with 67 cases(28.8%). In 106 cases with high risk of Down syndrome, only 45 cases (42.5%) were identified with trisomy 21, 25 cases (23.6%) with trisomy 18, 13 or sex chromosomal abnormality, and 36 cases (34.0%) with other chromosomal abnormality. Conclusions non-invasive prenatal diagnosis technique can not take place the present invasive procedure or Down syndrome screening, but it owns a great potential for future clinical application.
