Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center
Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center
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在单中心对双胎妊娠进行无创产前检测 (NIPT) 并结合辅助生殖技术 (ART) 治疗
DOI：
10.1002/pd.4837
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发表时间：
2016-07-01
影响因子：
3
通讯作者：
Wang, Wei
中科院分区：
文献类型：
--
作者：
Tan, Yueqiu;Gao, Ya;Wang, Wei
本研究的目的是报告辅助生殖技术（ART）治疗后双胎妊娠的非侵入性产前检测（NIPT）的性能。方法在两年内，565例ART双胎妊娠的孕妇进行了前瞻性NIPT检测，通过对孕妇血浆中的游离DNA进行测序，筛查21三体（T21）、18三体（T18）和13三体（T13）。阳性NIPT结果通过核型分析确认，而阴性结果在分娩后进行面谈。结果在565例孕妇中，NIPT失败率为0.9%（5/565）。4例T21经NIPT鉴定并经核型分析证实，阳性预测值为100%（95%CI 39.8%-100%）。在556例NIPT阴性的孕妇中，506例（91.0%）经产后随访证实，33例（5.9%）因缺乏细胞遗传学样本而导致不良妊娠结局，但原因不明。其余17例（3.1%）拒绝随访。结论NIPT具有较高的阳性预测值和较低的假阳性率，可作为ART双胎妊娠早期常规产前筛查的良好替代方法。(c)2016约翰威利父子有限公司
ObjectiveThe objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART).MethodIn two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT for screening for trisomy 21 (T21), 18 (T18), and 13 (T13) by sequencing cell-free DNA in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were interviewed after delivery. Pregnant decision based on NIPT and confirmation results was discussed during post-test counseling.ResultsIn total of 565 cases, NIPT had a failure rate of 0.9% (5/565). Four cases of T21 were identified by NIPT and confirmed by karyotyping, resulting in 100% (95%CI 39.8%-100%) positive predictive value. Among 556 cases with NIPT negative results, 506 cases (91.0%) were confirmed by follow-up of postnatal phenotypes, while 33 cases (5.9%) had adverse pregnant outcomes with unconfirmed reasons because of the lack of cytogenetic samples. The remaining 17 cases (3.1%) refused follow-up. No false negative result was reported.ConclusionWith apparently high positive predictive value and low false positive rate, NIPT has the potential to be used as a good alternative approach of conventional prenatal screening at the first trimester in ART twin pregnancy. (c) 2016 John Wiley & Sons, Ltd.