Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

Jiang, Fuman, Ren, Jinghui, Chen, Fang, Zhou, Yuqiu, Xie, Jiansheng, Dan, Shan, Su, Yue, Xie, Jianhong, Yin, Baomin, Su, Wen, Zhang, Huakun, Wang, Wei, Chai, Xianghua, Lin, Linhua, Guo, Hui, Li, Qiyun, Li, Peipei, Yuan, Yuying, Pan, Xiaoyu, Li, Yihan, Liu, Lifu, Chen, Huifei, Xuan, Zhaoling, Chen, Shengpei, Zhang, Chunlei, Zhang, Hongyun, Tian, Zhongming, Zhang, Zhengyu, Jiang, Hui, Zhao, Lijian, Zheng, Weimou, Li, Songgang, Li, Yingrui, Wang, Jun, Wang, Jian and Zhang, Xiuqing (2012) Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Medical Genomics, 5 . doi:10.1186/1755-8794-5-57


Author Jiang, Fuman
Ren, Jinghui
Chen, Fang
Zhou, Yuqiu
Xie, Jiansheng
Dan, Shan
Su, Yue
Xie, Jianhong
Yin, Baomin
Su, Wen
Zhang, Huakun
Wang, Wei
Chai, Xianghua
Lin, Linhua
Guo, Hui
Li, Qiyun
Li, Peipei
Yuan, Yuying
Pan, Xiaoyu
Li, Yihan
Liu, Lifu
Chen, Huifei
Xuan, Zhaoling
Chen, Shengpei
Zhang, Chunlei
Zhang, Hongyun
Tian, Zhongming
Zhang, Zhengyu
Jiang, Hui
Zhao, Lijian
Zheng, Weimou
Li, Songgang
Li, Yingrui
Wang, Jun
Wang, Jian
Zhang, Xiuqing
Title Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
Journal name BMC Medical Genomics   Check publisher's open access policy
ISSN 1755-8794
Publication date 2012-12-01
Year available 2012
Sub-type Article (original research)
DOI 10.1186/1755-8794-5-57
Open Access Status DOI
Volume 5
Total pages 11
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
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.
Keyword Autosomal aneuploidies
Massively parallel sequencing
Noninvasive Fetal Trisomy (NIFTY) test
Sex chromosomal aneuploidies
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Chemistry and Molecular Biosciences
 
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