摘要
目的评价广州地区早孕期产前筛查胎儿染色体异常的效率。方法对广州市妇女儿童医疗中心2007年1月至2012年12月共43703位早孕期单胎妊娠孕妇进行产前筛查结果进行回顾分析，43703位妊娠9～13周＋6的孕妇接受母血清妊娠相关蛋白A（pregnancy-associated plasma proteinA，PAPPA）、游离人绒毛膜促性腺激素β亚单位（free β—human chorionic gonadotrophin，free β—hCG）检测，其中35353位孕妇在11～13＋6周采血时同时测定胎儿顶臀长和颈后透明带厚度（nuehal translucency，NT），结合孕周、年龄、体重等因素，通过软件进行风险评估。比较联合筛查（PAPPA、free β—hCG＋NT）与血清筛查（PAPPA＋free β-hCG二联筛查）的差异。结果43703位孕妇中共筛查出唐氏综合征高风险1385例，18三体综合征高风险55例，筛查阳性率分别为3．17％和0．13％。经最终妊娠结局显示染色体异常胎儿共142例，其中唐氏综合征54例，18三体综合征13例，其他染色体异常75例。唐氏综合征和18三体综合征的检出率分别为83．33％和76．92％，联合筛查法唐氏综合征筛查阳性率低于血清筛查法，检出率高于血清筛查法。唐氏综合征胎儿母亲血清中PAPPA的中位数倍数值比对照组低，free β-hCG中位数倍数值和NT检测值比对照组高；18三体综合征胎儿母亲血清中PAPPA和free β—hCG的中位数倍数值比对照组低，NT检测值比对照组高。结论早孕期产前筛查可以有效检出唐氏综合征和18三体综合征，联合筛查优于血清学筛查，早孕期筛查应以联合筛查策略为主。
Objective To evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and/or plus nuchal translucency （NT） in Guangzhou region. Methods The results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012. A total of 43 703 pregnancies between 9 and 13＋6 weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A （PAPPA）, free Q-human chorionic gonadotropin （free β-hCG） with or without crown- rump length （CRL）. Nuchal translucency was measured by ultrasonographic scan between 11 and 13＋6 weeks of pregnancy. Gestational age was estimated by ultrasonographic scan. The risk values of Down syndrome （DS） and trisomy 18 were calculated using the software Lifcyele. Comparing the difference between the combined screening （PAPPA, free β-hCG and NT） and serum marker screening （PAPPA and free β-hCG）. Results Among the 43 703 pregnant women, screening showed that 1385 （3. 17%） were Down syndrome positive and 55 （0. 13%） were trisomy 18 positive. The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities, of which 54 cases suffered from Down syndrome, 13 had trisomy 18, and 75 had other chromosome abnormalities . The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92% , respectively. The positive rate is lower, and the detection rate is higher in combined screening group than serum marker screening group. The median PAPPA MoM was lower and the median free β-hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group. The median PAPPA and free β-hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group. Conclusion The first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy. The combined screening method is superior to the
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2014年第5期632-635,共4页
Chinese Journal of Medical Genetics
关键词
早孕期
产前筛查
唐氏综合征
18三体综合征
First trimester
Prenatal screening
Down＇ s syndrome, Trisomy 18 syndrome
