BGI published the largest prospective multicenter cohort study on the clinical performance of NIPT.

70+ Publications regarding NIFTY, showing a reliable data

Methodology, Clinical Validation, Sex Chromosome Aneuploidies, NIPT for twins, Deletion and Duplication/CNV, Fetal sex determination, Single Gene Disorders, Incidental findings, etc.

  • The performance of NIFTY & NIFTY Pro detecting Trisomies[1]

  • The performance of NIFTY Pro detecting Trisomies and Rare autosomal trisomies (RATs)[2]

    RATs are defined as autosomal trisomies other than trisomies 13, 18, and 21.

    The positive predictive value (PPV) of NIPT for RATs is low, only 4% to 6% in the general obstetrical population.

    Conclusions from our publication: Women with noninvasive prenatal testing results indicative of rare autosomal trisomies are at risk of adverse perinatal outcomes, and that risk can be stratified using chromosomes and the mosaicism ratio revealed by noninvasive prenatal testing. Our data are valuable for obstetrical caregivers advising a patient with a noninvasive prenatal testing result indicative of a rare autosomal trisomy and a false-positive diagnosis and for managing risks during pregnancy.

  • The performance of NIFTY Pro detecting Copy Number Variations(CNVs)[3]

  • The performance of NIFTY & NIFTY Pro detecting Sex Chromosomal Aneuploidies (SCAs)[4]

  • The performance of NIFTY & NIFTY Pro detecting Fetal Sex[5]

  • The performance of NIFTY & NIFTY Pro detecting Trisomies in twin pregnancies[6],[7]

  • The performance of NIFTY & NIFTY Pro detecting T21 in twin pregnancies with treatment of assisted reproductive techniques (ART)[8]


1. ZhangH,GaoY,JiangF,FuM,YuanY,GuoY,ZhuZ,LinM,LiuQ,Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015 May;45(5):530-8. doi: 10.1002/uog.14792. Epub 2015 Apr 8. Erratum in: Ultrasound Obstet Gynecol. 2015 Jul;46(1):130. PMID: 25598039.

2.XiangJ,LiR,HeJ,WangX,YaoL,SongN,FuF,ZhouS,WangJ,GaoX,PengJ,WanJ,HuL,LiuA,GuoY, Peng C, Liu X, Lin J, Li S, Sun J, Li D, Peng Z, Liao C. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy. Am J Obstet Gynecol MFM. 2023 Jan;5(1):100790. doi: 10.1016/j.ajogmf.2022.100790. Epub 2022 Oct 29. PMID: 36377092.

3.LiuH,GaoY,HuZ,LinL,YinX,WangJ,ChenD,ChenF,JiangH,RenJ,WangW. Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA. PLoS One. 2016 Jul 14;11(7):e0159233. doi: 10.1371/journal.pone.0159233. PMID: 27415003; PMCID: PMC4945049.

4.Song JP, Jiang YF, Gao TX, Yao YY, Liu LJ, Xu RH, Yi MQ, Yu CJ, Wang WP, Li H. Performance of non-invasive prenatal screening for sex chromosome aneuploidies and parental decision-making. Chin Med J (Engl). 2020 Jul 5;133(13):1617-1619. doi: 10.1097/CM9.0000000000000868. PMID: 32501830; PMCID: PMC7386330.

5.Pan X, Zhang C, Li X, Chen S, Ge H, Zhang Y, Chen F, Jiang H, Jiang F, Zhang H, Wang W, Zhang X. Non-invasive fetal sex determination by maternal plasma sequencing and application in X-linked disorder counseling. J Matern Fetal Neonatal Med. 2014 Dec;27(18):1829-33. doi: 10.3109/14767058.2014.885942. Epub 2014 Feb 20. PMID: 24444365.

6.Lau TK, Jiang F, Chan MK, Zhang H, Lo PS, Wang W. Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. J Matern Fetal Neonatal Med. 2013 Mar;26(4):434-7. doi: 10.3109/14767058.2012.733768. Epub 2012 Oct 29. PMID: 23035860.

7.Huang X, Zheng J, Chen M, Zhao Y, Zhang C, Liu L, Xie W, Shi S, Wei Y, Lei D, Xu C, Wu Q, Guo X, Shi X, Zhou Y, Liu Q, Gao Y, Jiang F, Zhang H, Su F, Ge H, Li X, Pan X, Chen S, Chen F, Fang Q, Jiang H, Lau TK, Wang W. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat Diagn. 2014 Apr;34(4):335-40. doi: 10.1002/pd.4303. Epub 2014 Feb 3. PMID: 24357023.

8.Tan Y, Gao Y, Lin G, Fu M, Li X, Yin X, Du J, Li J, Li W, Peng H, Yuan Y, Chen F, Jiang F, Zhang H, Lu G, Gong F, Wang W. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center. Prenat Diagn. 2016 Jul;36(7):672-9. doi: 10.1002/pd.4837. Epub 2016 Jun 7. PMID: 27150972.