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【摘要】 目的 提高妊娠中期唐氏综合征(Down’sSyndrome, DS)的筛查率,预防和减少唐氏征儿的出生。方法 对本院363例妊娠14~20周孕妇进行血清甲胎蛋白(AFP)和游离绒毛膜促性腺激素(freeβHCG)检测,唐氏综合征高风险切割值为1∶270,对高风险及临界风险者建议进行产前诊断。结果 筛查363例中期孕妇,检出25例DS高风险孕妇,阳性率为6.9%,有12例接受了羊水穿刺检查。发现胎儿染色体异常2例,异常检出率为16.67%。筛查神经管缺陷(Nervous tube defect, NTD)高危5例,阳性率为1.38%,在高危孕妇中查B超发现异常胎儿1例。结论 孕中期母血清联合检测AFP和FβHCG,本方法简便易行,无创伤性,便于在孕妇中进行大规模的筛查,对发现胎儿先天缺陷有效可行。
【关键词】 唐氏综合征 甲胎蛋白游离绒毛膜促性腺激素 产前筛查
Clincal significance of Downs sydrome screening
ZHAO Wei, DUAN Aijun, GUO Sheke,et al.
Department of Gynaecology,Jiaozuo People’s Hospital,Henal Province 454000,China
【Abstract】 Objective To improve the mediumterm pregnancy with Down’s syndrome screening rate in order to prevent and decrease of the birth rate of Down’s syndrome infant.Methods To detect the blood level of AFP and freeβHCG of 363 pregnancy woment between 14~20 weeks of our hospital.Cuting numerical value is 1:270. We recommend those who with high DS risk to do the amnitic fluid examination. Result 363 pregnant women accepted antenatal screening.25 cases of them were detected at high risk with Downs syndrome, and positive rate was 6.9%.Of 12 cases diagnosed by amniocentesis,2 cases with fetal abnormal chromosome.The detectable rate was 16.67%;5 cases at high risk of Downs syndrome,the positive rate was 1.38%.In the highrisk pregnant women,1 cases with abnormal fetal were found by ultrasonic B.Conclusion AFP combined with FβHCG is the effective method, which is simple, noninvasive, easy to carry out largescale in pregnant women in the screening, and can reduce the birth rate of fetal malformation.
【Key words】 Downs Syndrome;AFP;FreeβHCG;Anteparturn screening
1 资料与方法
1.1 研究对象 在本院门诊就诊妊娠14～20周的孕妇363例,年龄25～42岁之间,接受DS产前筛查,检出高危孕妇,行羊水或B超产前诊断。其中≥35岁者63例,占17.36%; 3.3 唐氏综合征的未来展望 目前,唐氏综合征产前筛查已在各国广泛开展,已得到公认的血清标记物主要有妊娠相关血浆蛋白A(PAPPA)、甲胎蛋白(AFP)、抑制素 A(INHA)、游离绒毛膜促性腺激素(βhCG)、游离雌三醇(βE3,)等。妊娠中期常用的方法是:二联法(AFP+βHCG),三联 (AFP+βHCG +βE3)或 四联 (AFP+βhCG+βE3+INHA)筛查。众多研究实验显示,三联法及四联法使唐氏综合征筛查更为准确。Suzumori等应用血清三联(AFP+3hCG+~E3)方法对妊娠妇女进行DS儿的筛查,结果DS儿的筛查率较二联方法高[7]。而研究人员发现四联法比三联法更加有效。日前“四联”测试法在美国的许多实验室中已经开始使用。但我国目前采用的较多的是βhCG与AFP联合的孕中期二指标筛查法,因其价格低廉,方法简单,便于开展。我国广泛开展中孕期三联或四联筛查的条件尚不具备,因为其经济成本及要求实验室技术条件较高,限制了在我国的广泛开展应用。而对于大多数孕妇特别是偏远地区孕妇而言,价格问题仍然是决定是否接受产前筛查的主要因素。相信随着国家科研能力及人民生活水平的快速提高,以上两种筛查方法也会很快在我国得到广泛开展。
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