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低风险单胎及双胎妊娠常见三体非侵入性产前筛查的临床效率

Clinical Efficiency of Non-invasive Prenatal Screening for Common Trisomies in Low-Risk and Twin Pregnancies.

作者信息

Xu Yanfei, Jin Pengzhen, Lei Yu, Qian Yeqing, Xu Yuqing, Wang Miaomiao, Jin Jinglei, Yin Yixuan, Dong Minyue

机构信息

Department of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Department of endocrinology, People's Hospital of Zhejiang Province, Hangzhou, China.

出版信息

Front Genet. 2021 May 10;12:661884. doi: 10.3389/fgene.2021.661884. eCollection 2021.

Abstract

To evaluate the clinical efficiency of non-invasive prenatal screening (NIPS) for fetal aneuploidies in low-risk and twin pregnancies, patients who received NIPS in a tertiary university hospital were enrolled, and their clinical data, NIPS results and pregnancy outcomes were collected. Patients were divided into singleton and twin pregnancies, and then those with singleton pregnancies were divided into low- and high-risk pregnancies. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were estimated. Comparisons were made on the clinical efficiency of NIPS between singleton and twin pregnancies, as well as between low- and high-risk pregnancies. Of 66,172 patients enrolled, 59,962 were eligible for analysis. The sensitivity, specificity and NPV were ≥ 99% in singleton and twin pregnancies. The PPVs were 90.4, 56.6, and 13.0% in singleton pregnancies, while 100, 33.3, and 0% in twin pregnancies for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13), respectively ( > 0.05 for all). The PPVs were 97.4 and 90.0% in high-risk pregnancies, while 78.6 and 16.7% in low-risk pregnancies for T21 and T18, respectively ( < 0.05 for all). In summary, the performance of NIPS in singleton pregnancies was similar to that in twin pregnancies. NIPS can be recommended for all pregnancies regardless of the risks.

摘要

为评估非侵入性产前筛查(NIPS)在低风险和双胎妊娠中检测胎儿非整倍体的临床效率,我们纳入了在一所三级大学医院接受NIPS检查的患者,并收集了他们的临床资料、NIPS结果及妊娠结局。将患者分为单胎妊娠和双胎妊娠,然后将单胎妊娠患者再分为低风险和高风险妊娠。估算了灵敏度、特异度、阳性预测值(PPV)和阴性预测值(NPV)。比较了NIPS在单胎妊娠和双胎妊娠之间以及低风险和高风险妊娠之间的临床效率。在纳入的66172例患者中,59962例符合分析条件。单胎妊娠和双胎妊娠的灵敏度、特异度和NPV均≥99%。21三体(T21)、18三体(T18)和13三体(T13)在单胎妊娠中的PPV分别为90.4%、56.6%和13.0%,而在双胎妊娠中分别为100%、33.3%和0%(所有P>0.05)。T21和T18在高风险妊娠中的PPV分别为97.4%和90.0%,而在低风险妊娠中分别为78.6%和16.7%(所有P<0.05)。总之,NIPS在单胎妊娠中的表现与双胎妊娠相似。无论风险如何,均可推荐对所有妊娠进行NIPS检查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/091d/8143437/e01b45892c3e/fgene-12-661884-g001.jpg

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