Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
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DOI：
10.1186/1755-8794-5-57
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发表时间：
2012-12-01
影响因子：
2.7
通讯作者：
Zhang, Xiuqing
中科院分区：
文献类型：
--
作者：
Jiang, Fuman;Ren, Jinghui;Zhang, Xiuqing
背景资料：传统的产前筛查方法，如孕妇血清检测和超声扫描，分辨率和准确性有限。方法：我们开发了一种先进的基于大规模平行测序的无创产前诊断方法。非侵入性胎儿三体（NIFTY）测试结合了优化的学生t检验与局部加权多项式回归和二元假设。结果：16例21三体中16例，12例18三体中12例，2例13三体中2例，4例45，X染色体中3例，1例XYY染色体中1例，2例XXY染色体中2例均正确检出。但18三体和45，X染色体各有1例假阳性和1例假阴性。该试验对常染色体非整倍性的敏感性为100%，特异性为99.9%，对性染色体非整倍性的敏感性为85.7%，特异性为99.9%。与三个以前报道的Z-评分方法与/不GC偏差去除和内部控制相比，NIFTY测试是更准确和强大的常染色体和性染色体非整倍体在fetus.Conclusion检测：我们的研究表明，一个强大的和可靠的方法，无创产前诊断。
Background: Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy.Methods: We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) test, combines an optimized Student's t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping.Results: 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses.Conclusion: Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis.