惠州地区22671例孕妇孕早中期唐氏综合征产前筛查结果分析

目的 分析惠州地区22 671例唐氏综合征血清学筛查结果,评价孕早期和孕中期产前筛查胎儿染色体异常的效率.方法 对2015年1月至2016年9月来自广东省惠州市第一妇幼保健院产前诊断中心产检的22 671例单胎妊娠孕妇进行血清学筛查,计算筛查效率,对筛查结果异常者进行产前诊断并分析胎儿染色体核型异常结果.结果 在22 671例受检孕妇中,共筛查出21-三体综合征高风险1152例,18-三体综合征高风险33例,神经管畸形(NTD)高风险38例.其中孕早期21-三体综合征的阳性率为5.83％(765/13 109),18-三体综合征阳性率为0.21％ (28/13 109),孕中期21-三体综合征阳性率为4.05％(387/9 562),18-三体综合征阳性率为0.05％(5/9 562),NTD的阳性率为0.40％(38/9 562).检出21-三体综合征10例、18-三体综合征4例、13-三体综合征1例,其他染色体异常3例.其中孕早期占77.78％(14/18),孕中期占22.22％ (4/18).结论 孕早期和孕中期血清学产前筛查可有效降低出生缺陷,重视孕早期产前筛查有利于早期诊断胎儿染色体异常.

Result analysis of prenatal serological screening for Down' s syndrome in first and second trimester in 22 671 pregnant women in Huizhou region

Objective To analyze results of prenatal serological screening for Down' s syndrome in 22 671 pregnant women in Huizhou region and to evaluate the efficiency of prenatal screening for fetal chromosomal abnormalities in first and second trimester.Methods A total of 22 671 women with singleton pregnancy receiving check-up in prenatal diagnosis center in Huizhou First Women and Children' s Hospital from January 2015 to September 2016 accepted prenatal serological screening.Screening efficiency was observed.Prenatal diagnosis was performed for patients with abnormal results and fetal chromosomal abnormalities were analyzed.Results Of 22 671 pregnant women screened,1 152 cases were detected with high risk of trisomy 21,33 cases with high risk of trisomy 18,and 38 cases with high risk of neural tube defects (NTD).In first trimester,positive rate was 5.83％ (765/13 109) for trisomy 21 and 0.21％ (28/13 109) for trisomy 18 respectively.Positive rates of trisomy 21,trisomy 18 and NTD in second trimester were 4.05 ％ (387/9 562),0.05 ％ (5/9 562) and 0.40％ (38/9 562),respectively.In all screened patients,10 cases of trisomy 21,4 cases of trisomy 18,1 case of trisomy 13,and 3 cases of other chromosome abnormalities were identified,among which 77.78％ (14/18) was detected in first trimester and 22.22％ (4/ 18) in second trimester.Conclusion Prenatal serological screening in first and second trimester can effectively reduce birth defects,and paying attention to first trimester screening is helpful for early diagnosis of fetal chromosomal abnormalities.