孕早期NT与游离βhCG及PAPP-A联合筛查唐氏综 合征假阴性病例分析  

Reason for false-negative cases in first trimester combined screening for Down＇S Syndrome with NT, Free-βhCG and PAPP-A

作　　者：朱琳[1] 林延润 ZHU Lin;LIN Yan-run(Nanhai District maternal and child health hospital of Foshan City, Guangdong Foshan 52820)

机构地区：[1]佛山市南海区妇幼保健院检验科,广东佛山528200

出　　处：《医学检验与临床》2018年第4期8-11,共4页Medical Laboratory Science and Clinics

摘　　要：目的：探讨孕早期利用颈项透明层厚度（NT）,联合血清生化标志物游离β绒毛膜促性腺激素（Free-βhCG）、妊娠血浆相关蛋白A（PAPP-A）筛查唐氏综合征（Down＇s syndrome,DS）假阴性的原因.方法：回顾分析佛山市南海区妇幼保健院2014年1月-2017年5月共72784例早孕期单胎妊娠孕妇产前筛查结果,所有孕妇孕11-13＋6时接受血清PAPP-A和free-β检测,同时测定颈项透明层厚度,通过随访结果收集假阴性病例,核对筛查信息,并对冰冻保存的血清标本重新进行检测,同时外送外院比对,分析假阴性病例发生的原因.结果：72784位孕妇中,早期血清学筛查低风险孕妇为70455例,4例后续检查确诊为唐氏综合征,为假阴性病例.分析发现1例与风险评估软件未校准有关,在风险软件MOM值校准之前,PAPP-A平均水平比软件内嵌参数源人群高30％;另有2例与NT有关,1例假阴性病例原因不明确,考虑为方法学本身原因.结论：血清学早孕期唐氏筛查时应注意NT对风险值计算的影响,应用本地人群中位数的数据优化分析软件可以减少筛查假阴性的发生.Objective： The present study aims to discusses the reason of false-negative of using NT, combined with serum biochemical markers （free-βhCG, PAPP-A） for Down＇s syndrome screening in early stage of pregnancy. Methods： The results of prenatal screening were retrospectively analyzed among 72784 women with singleton pregnancies from January 2014 to May 2017. All the pregnancies between 11 and 13^＋6 weeks of pregnancy were collected and analyzed for maternal serum PAPP-A and free-13hCG. Nuchal translucency was measured by ultrasonographic scan simultaneously. The serum specimens on cryopreservation of false-negative cases which were collected by follow-up visit were reviewed in our hospital and other hospital, and the reason for the false-negative cases has been found. Results： Among 72784 pregnant women, 70455 cases were in low risk of early pregnancy screening, 4 case were diagnosed as DS. This study found that the average level of PAPP-A was 30% higher than those caucasian in the screening analysis software before the adjustment of MOMs. The adjustment of screening analysis software （1/4） and NT （2/4） could be the causes of false-negative, and one case was not clear. Conclusion： The impact of NT should be taken into consideration in screening performance. Using local medians to optimize the evaluation system could reduce false negative rate.

关 键 词：早孕期 产前筛查 唐氏综合征 假阴性 

分 类 号：R714.2[医药卫生—妇产科学]