血清学筛查联合无创产前检测在胎儿常见非整倍体筛查中的应用  

Application of serological screening in combination with non-invasive prenatal test in fetal the common aneuploid disease

作　　者：叶强 胡勤 钟强 梁屹 韦懿[1] Ye Qiang;Hu Qin;Zhong Qiang;Liang Yi;Wei Yi(Zigong Hospital of Maternal and Children Health Care with Molecular genetic center,Zigong,Sichuan,643000,Chin)

机构地区：[1]自贡市妇幼保健院分子遗传中心,四川自贡643000

出　　处：《当代医学》2018年第17期47-50,共4页Contemporary Medicine

摘　　要：目的探讨在川南地区,无创产前检测(NIPT)相对于血清学筛查的优势以及血清学筛查联合NIPT在胎儿常见非整倍体筛查中的临床应用价值。方法选取2015年9月~2016年9月,本院妇产科门诊就诊的孕12~22+6周且自愿进行血清学筛查和NIPT检测的孕妇364例,并随访观察。结果 176例孕妇血清学筛查提示为高风险,其中35岁以下T21临界风险(1/1 000≤T21风险值<1/270)和高风险为(≥1/270)137例,T18临界风险(1/1 000≤T18风险值<1/350)和高风险为(≥1/350)12例。364例全部进行无创DNA检测,其结果全为阴性,在以后的随访中,胎儿均未出现异常情况。结论 35岁以上血清学筛查风险率显著高于35岁以下(P<0.05);无创产前检测相对于血清学筛查具有更高的敏感性和特异性;血清学筛查联合无创产前检测能提高胎儿常见非整倍体检出率,减少染色体异常胎儿出生,提高川南地区人口素质。Objective To assess the advantage of non-invasive prenatal test（NIPT） compared with serological screening and the valve serological screening in combination with non-invasive prenatal test in fetal the common aneuploid disease in southern Sichuan. Methods From September2015 to September 2016, a total of 364 pregnant women with 12-22^＋6 gestational weeks who received serological screening and NIPT at Zigong Hospital of Maternal and Children Health Care. Later we carried out follow-up examination. Results Serological screening showed that 176 cases of pregnant women were high risk, including 137 cases of T21 critical risk（1/1 000≤T21 valve〈1/270） and high risk（≥1/270）, and including 12 cases of T18 critical risk（1/1 000≤T18 valve〈1/350） and high risk（≥1/350） under the age of 35. A total of 364 pregnant women conducted were collected.NIPT results showed all 364 cases were negative and there was no abnormal condition in the fetus in the follow-up period. Conclusion Compared to age of pregnant women under 35 years old, the risk rate of serological screening was significantly over the age of 35（P〈0.05）. And non-invasive prenatal test has higher sensitivity and specificity than serological screening. At the same time, the serological screening in combination with non-invasive prenatal test in fetal could improve the ability to find the common chromosomal aneuploid disease, and to decrease fetal birth with chromosome abnormality, so could improve population quality southern Sichuan.

关 键 词：无创产前检测 血清学筛查 常见非整倍体 

分 类 号：R714.5[医药卫生—妇产科学]