分析在接受人工生殖技术的双胞胎妊娠中，非侵入性产前检测 21 三体和 18 三体的影响。
Analysis of the impact of noninvasive prenatal testing for trisomies 21 and 18 in twin pregnancies undergoing artificial reproductive technology.
机构信息
Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Key Laboratory of Reproductive Dysfunction Management of Zhejiang Province, China.
出版信息
Medicine (Baltimore). 2022 Aug 19;101(33):e29985. doi: 10.1097/MD.0000000000029985.
PURPOSE
The purpose of this study was to evaluate the performance and impact of noninvasive prenatal screening (NIPS) on twin pregnancies.
PATIENTS AND METHODS
Twin pregnancies after artificial reproductive technology(ART) were tested by NIPS for screening trisomy 21, 18, and 13 in a single medical center in Hangzhou. Positive NIPS results were confirmed by karyotyping, while negative results were interviewed after delivery.
RESULTS
From January 2019 to December 2020, 474 twin pregnancies were tested by NIPS for screening trisomy 21, 18, and 13 in a single medical center in Hangzhou. The performance of NIPS had been evaluated compared to the invasive diagnostic results. The positive predictive value (PPV) of NIPS for chromosome 21 and 18 aneuploidies is 80% (95CI, 36.09-96.59) and 100%, respectively. The incidence of trisomy 21, and 18 chromosome aneuploidies among the twin pregnancies undergoing ART was 0.84% and 0.21%, respectively.
CONCLUSION
The performance of NIPS was substantially accurate among the twin pregnancies after ART in this study, and NIPS potentially avoided a considerable part of aneuploidies liveborn in twin pregnancies in Hangzhou.
目的
本研究旨在评估无创产前筛查（NIPS）在双胎妊娠中的表现和影响。
患者和方法
在杭州的一家单家医疗中心，对接受人工生殖技术（ART）的双胎妊娠进行 NIPS 检测，以筛查 21 三体、18 三体和 13 三体。阳性 NIPS 结果通过核型分析确认，而阴性结果在分娩后进行访谈。
结果
2019 年 1 月至 2020 年 12 月，在杭州的一家单家医疗中心，对 474 例接受 ART 的双胎妊娠进行了 NIPS 检测，以筛查 21 三体、18 三体和 13 三体。与有创诊断结果相比，评估了 NIPS 的性能。NIPS 对 21 号和 18 号染色体三体的阳性预测值（PPV）分别为 80%（95%CI，36.09-96.59）和 100%。ART 双胎妊娠中 21 三体和 18 三体染色体非整倍体的发生率分别为 0.84%和 0.21%。
结论
在本研究中，ART 后双胎妊娠的 NIPS 性能基本准确，NIPS 可能避免了杭州双胎妊娠中相当一部分染色体非整倍体活产儿的出生。
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