張晨暉 朱波 汪海 董葉 林夢(mèng)夢(mèng) 夏淑琦 鄭加永

[關(guān)鍵詞] 聯(lián)合篩查;唐氏綜合征;NIPT;血清學(xué)篩查

[中圖分類號(hào)] R714.5? ? ? ? ? [文獻(xiàn)標(biāo)識(shí)碼] B? ? ? ? ? [文章編號(hào)] 1673-9701（2021）25-0074-04

The value of NIPT combined with serological screening in the second trimester for Down syndrome screening

ZHANG Chenhui? ?ZHU Bo? ?WANG Hai? ?DONG Ye? ?LIN Mengmeng? ?XIA Shuqi? ?ZHENG Jiayong

Department of Reproductive Genetics，Wenzhou People′s Hospital in Zhejiang Province， Wenzhou Women and Children′s Hospital， Wenzhou? ?325000， China

[Abstract] Objective To explore the research value of noninvasive prenatal testing （NIPT） combined with second trimester serological screening in Down syndrome（DS） screening. Methods A total of 12 719 pregnant women in our hospital from January 2017 to December 2018 were selected for group study.The results of second trimester serological screening， NIPT screening were statistically analyzed.The diagnostic accuracy rate of the second trimester serological screening， NIPT screening，and combined screening in Down syndrome screening was compared. All pregnant women had follow-up records and pregnancy outcomes. The combined screening result was based on the NIPT result as the final screening result. Results The DS high-risk rate of the second trimester serological screening was 3.24%（412/12 719）， the false-positive rate was 3.20%（407/12 719）， and the positive predictive value was 1.21%.The DS high-risk rate of NIPT screening was 0.36%（18/5016）， the false-positive rate was 0.06%（3/5016）， and the positive predictive value was 83.33%.The DS high-risk rate of the combined screening was 0.31%（3/957）， the false-positive rate was 0%， and the positive predictive value was 100.00%.The DS false positive rate of the combined screening was significantly lower than that of traditional second trimester serological screening（χ2=31.56， P=0.000）.The positive predictive value of the combined screening was also significantly higher than that of traditional second trimester serological screening（χ2=153.74， P=0.000）. Conclusion Combined screening is an effective means to predict abnormal fetuses and adverse pregnancy outcomes.It can also greatly improve the positive predictive value of traditional serological screening and reduce the burden of prenatal diagnosis on pregnant women.

[Key words] Combined screening; Down syndrome; NIPT; Serological screening

唐氏綜合征（Down syndrome，DS）在臨床中是比較常見的一種染色體疾病，由配子形成過程中染色體不分離所導(dǎo)致[1]，臨床主要表現(xiàn)為先天性智力低下、顱面畸形、認(rèn)知障礙、肌張力低下[2]等，同時(shí)還會(huì)給家庭和社會(huì)帶來沉重的負(fù)擔(dān)。傳統(tǒng)的唐氏綜合征篩查主要采用二聯(lián)甲胎蛋白和人絨毛膜促性腺激素游離β亞基（AFP+freeβ-hcg）、三聯(lián)（AFP+freeβ-hcg+游離雌三醇ue3）等發(fā)光免疫檢測(cè)法[3]，存在漏診率高、假陽(yáng)性高等問題。本研究就無創(chuàng)產(chǎn)前檢測(cè)（Noninvasive prenatal testing，NIPT）聯(lián)合二聯(lián)發(fā)光免疫檢測(cè)法與傳統(tǒng)孕中期血清學(xué)二聯(lián)篩查進(jìn)行比較，旨在探討NIPT聯(lián)合二聯(lián)發(fā)光免疫檢測(cè)法進(jìn)行DS篩查的臨床應(yīng)用價(jià)值，現(xiàn)報(bào)道如下。