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目的探讨中孕期唐氏综合征筛查为临界风险的胎儿超声及染色体检查的临床意义。方法回顾性分析中孕期唐氏综合征产前筛查临界风险的2 281例胎儿超声检查结果,以低风险2 500例为对照,比较两组单发软指标、多发软指标、单发畸形、多发畸形等异常检出率。并分析其中1 332例知情选择羊膜腔穿刺术者胎儿染色体产前诊断结果。结果 1临界风险组胎儿超声检查检出单发软指标异常696例(30.51%)、多发软指标异常118例(5.17%)、单发畸形18例(0.79%)、多发畸形7例(0.31%)。低风险组检出单发软指标异常308例(12.32%)、多发软指标异常82例(3.28%)、单发畸形5例(0.20%)、多发畸形1例(0.04%)。临界风险组各项异常检出率明显高于低风险组(P<0.05,P<0.01)。2选择羊膜腔穿刺术胎儿染色体产前诊断1 332例临界风险组中,合并单发软指标异常135例,多发软指标异常83例,单发畸形11例,多发畸形5例者胎儿染色体检查结果均正常。31 332例临界风险组中检出常染色体结构异常10例,性染色体结构异常1例。异常检出率0.08%。其中,染色体平衡易位7例,臂间倒位3例,等臂染色体1例。9例系母系或父系来源,2例为新发突变。11例染色体结构异常的胎儿超声检查均无明显异常发现。结论胎儿超声检查能为唐氏综合征临界风险孕妇的遗传咨询提供有价值的信息;唐氏综合征临界风险亦提示胎儿染色体结构异常风险增加。
Objective To investigate the clinical significance of fetal ultrasound and chromosomal examination in screening for critical risk Down’s syndrome during pregnancy. Methods A retrospective analysis of 2 281 fetal ultrasound examinations of the critical risk of prenatal screening for Down’s syndrome during pregnancy was performed. The low-risk 2 500 cases were used as control. The levels of single soft index, multiple soft indices, Multiple abnormalities such as abnormal detection rate. An analysis of prenatal diagnosis of fetuses with 1 332 cases of informed choice amniocentesis was performed. Results 1 In the critical risk group, 696 cases (30.51%) with single soft index abnormality, 118 cases (5.17%) with multiple soft index abnormalities, 18 cases (0.79%) with single malformation, 7 cases with multiple malformations (0.31% ). In the low risk group, 308 cases (12.32%) had abnormal single soft index, 82 cases (3.28%) had multiple soft index abnormalities, 5 cases (0.20%) had single malformation, and 1 case (0.04%) had multiple malformations. The detection rate of abnormalities in the critical risk group was significantly higher than that in the low risk group (P <0.05, P <0.01). 2 selected amniocentesis prenatal diagnosis of fetal chromosome 1 332 critical risk group, the combined single soft index abnormalities in 135 cases, multiple abnormalities in 83 cases, 11 cases of single malformations, 5 cases of multiple malformations fetal chromosome test results All normal. Among the 31 332 critical risk groups, 10 cases were found with autosomal abnormality and 1 case with abnormal sex chromosome. Anomaly detection rate of 0.08%. Among them, 7 cases of chromosomal equilibrium translocation, 3 cases of inter-arm inversion, and 1 arm-arm chromosome. Nine were maternal or paternal, and two were new mutations. Eleven cases of chromosomal abnormalities in fetal ultrasound examination showed no significant abnormalities. Conclusion Fetal ultrasound can provide valuable information for the genetic counseling of pregnant women at risk of Down’s syndrome. The critical risk of Down’s syndrome also suggests an increased risk of fetal structural abnormalities.