基于游离胎儿 DNA 测序的无创性产前检测在伊朗混合风险人群中 21、18、13 三体及性染色体非整倍体的临床应用。
Clinical Application of Cell-Free DNA Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran.
机构信息
Medical Genetics Department, DeNA Laboratory, Tehran, Iran.
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
出版信息
Fetal Diagn Ther. 2020;47(3):220-227. doi: 10.1159/000501014. Epub 2019 Sep 5.
PURPOSE
To report the clinical experience and performance of plasma cell-free DNA sequencing-based noninvasive -prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, 13 (T21/T18/T13) as well as sex chromosome aneuploidy (SCA) in a mixed-risk population in Iran.
METHODS
In a 2-year period between January 1, 2015, and December 31, 2016, over 150 medical centers in Iran offered NIPT as clinical screening tests for fetal T21, T18, T13 and SCA. All NIPT positive cases were recommended to undergo invasive prenatal diagnosis.
RESULTS
11,414 maternal blood samples were received for NIPT, for which 11,223 samples obtained NIPT results. Among 11,213 cases with confirmatory results, 94 T21, 39 T18, 8 T13, 15 XO, 6 XXX, 3 XYY, 5 XXY and 11,042 euploid cases were detected. The overall sensitivity of NIPT was 98.90, 100.00, 100.00, 90.91, 100.00, 100.00 and 100.00%, and specificities were 99.96, 99.97, 99.99, 99.96, 99.98, 100.00 and 99.99% for detecting T21, T18, T13, XO, XXX, XYY and XXY, respectively.
CONCLUSION
With a stringent protocol, our prospective large-scale multicentric nationwide study demonstrated that NIPT showed excellent performance as screening test for the detection of fetal T21, T18, T13 and SCA in mixed-risk pregnancies in Iran.
目的
报告基于血浆无细胞游离 DNA 测序的无创性产前检测（NIPT）在伊朗混合风险人群中作为筛查方法检测 21 三体、18 三体、13 三体（T21/T18/T13）以及性染色体非整倍体（SCA）的临床经验和性能。
方法
在 2015 年 1 月 1 日至 2016 年 12 月 31 日的 2 年期间，伊朗有超过 150 家医疗中心提供 NIPT 作为胎儿 T21、T18、T13 和 SCA 的临床筛查检测。所有 NIPT 阳性病例均建议进行有创性产前诊断。
结果
共收到 11414 份用于 NIPT 的母体血液样本，其中 11223 份样本获得了 NIPT 结果。在 11213 例有确认结果的病例中，检测到 94 例 T21、39 例 T18、8 例 T13、15 例 XO、6 例 XXX、3 例 XYY、5 例 XXY 和 11042 例正常二倍体病例。NIPT 的总体灵敏度为 98.90%、100.00%、100.00%、90.91%、100.00%、100.00%和 100.00%，特异性分别为 99.96%、99.97%、99.99%、99.96%、99.98%、100.00%和 99.99%，用于检测 T21、T18、T13、XO、XXX、XYY 和 XXY。
结论
通过严格的方案，我们前瞻性的大规模多中心全国性研究表明，NIPT 作为伊朗混合风险妊娠中胎儿 T21、T18、T13 和 SCA 的筛查检测具有优异的性能。
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