深圳地区44147例唐氏筛查临床分析

Clinical analysis of Down′s syndrome screening:44 147 pregnancies in Shenzhen

目的探讨早孕期和中孕期唐氏筛查对检出胎儿染色体异常的临床价值。方法 2008年1月至2010年12月,应用时间分辨荧光免疫法分别对11 328例早孕期(8～13+6周)妇女和32 819例中孕期(14～20+6周)妇女进行唐氏综合征的血清标记物检测。对于唐氏筛查高风险的孕妇,于孕16～22w进行羊膜腔穿刺,抽取羊水进行胎儿染色体核型分析。结果 11 328例早孕期妇女,627例唐氏筛查高风险;其中21-三体高风险596例,18-三体高风险31例。32 819例中孕期妇女,2072例唐氏筛查高风险;其中21-三体高风险1898例,18-三体高风险56例,神经管缺陷(NTD)高风险118例。其中,842例接受羊水穿刺(其中,早孕期高风险210例,中孕期高风险632例),发现胎儿染色体异常39例(早期15例,中期24例),异常检出率为4.63%。其中,羊水穿刺确诊18例唐氏综合征。4例18三体综合征。1例Turner's综合征1例47,XXX 9例9号染色体臂间倒位、其他6例。结论孕期唐氏筛查是预测胎儿染色体异常的有效指标。结合羊水培养,对预防先天缺陷儿出生有重要临床应用价值。

Objective： To explore the prediction value of Down＇s syndrome screening in the detection of fetal chromosomal abnormality. Methods： Serum markers of PAPP- A and fβ -HCG in 11 328 women （8 - 13^ ＋6 gestational weeks） and serum markers of AFP, uE3 and HCG in 32 819 pregnant women （ 14 -20^＋6 gestational weeks） from Jan 2008 to Dec 2010 were detected by applicate time - resolved fluorescence immunoassay. Amniocentesis for fetal karyotype was done between 16 to 22 gestational weeks in gravidas with high risk by screening. Results： 627 cases in the first trimester were detected at high risk. In which, 596 cases were positive in Down＇s syndrome and 31 cases were positive in 18 trisomy. In the meantime, 2072 cases in the second trimester were detected at high risk. In which, 1898 cases were positive in Down＇s syndrome, 56 cases were positive in 18 trisomy, and 118 cases were positive in neural tube defects. Amniocentesis was done in 842 cases at high risk （210 cases in the first trimester and 632 cases in the second trimester）, in which 39 cases with fetal chromosome abnormalities were diagnosed, and the detectable rate was 4.63%. Among them, there were 18 cases of Down＇s syndrome, 4 cases of 18 trisomy, 1 case of Turner＇s syndrome, 1 case of47,XXX, 9 cases of chromosome 9 pericentric inversion and 6 cases of other abnomalities. Conclusions： Down＇s syndrome screening is an effective method to predict fetal chromosome abnormalities. Combination of Down＇s syndrome screening and amniocentesis for fetal karyotype is useful in preventing birth defects in children .