Published Studies

Our Studies

iGene™  has been validated prospectively on 146,958 cases, the world’s largest study of non invasive prenatal test to date.


Noninvasive Prenatal Testing for Trisomy 21, 18 and 13 - Clinical Experience from 146,958 Pregnancies.
Zhang H, et al. (2015) Ultrasound Obstet. & Gynecol. 10.1002/uog/14792.

Unlike other NIPTs, iGene™ test shows high sensitivity and specificity for T13

Noninvasive fetal trisomy (NIFTY) test: An Advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.
Jiang F, et al, BMC Medical Genomics 2012 Dec:5.57 doc10.1186/1755-87945-57

Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.
Dan S, Wang W, Ren J, Li Y et al., Prenatal Diagnosis, 2012 Nov 9:1-8. doi: 10.1002/pd.4002.
Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience.
Lau TK, Chan MK, Lo PSS, et al. et al., The Journal of Maternal-Fetal & Neonatal Medicine, 2012 October; 25(10): 1856–1859.
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
Lau TK, Chen F, Pan X et al., The Journal of Maternal-Fetal & Neonatal Medicine, 2012 Aug;25(8):1370-4.
Non-invasive prenatal screening of fetal down syndrome by maternal plasma DNA sequencing in twin pregnancies.
Lau TK, et al., Journal of Maternal-Fetal and Neonatal Medicine, 2013 Mar;26(4):434.
Patients' perception of risk: informed choice in prenatal testing for foetal aneuploidy
Choolani M, Biswas A. Singapore Med J. 2012 Oct;53(10):633-7
Uses of cell free fetal DNA in maternal circulation
Hill M, Barrett AN, White H, Chitty LS. Best Pract Res Clin Obstet Gynaecol. 2012 Oct;26(5):639-54
Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing.
Dan S, Chen F, Choy KW et al., PLoS ONE 7(2): e27835. doi:10.1371/journal.pone.0027835.
Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X.
Yao H, Zhang L, Zhang H et al., Prenatal Diagnosis, 2012 Nov;32(11):1114-6.
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.
Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, et al., Prenatal Diagnosis, 2013 Jun;33(6):602-8.

Other Studies

Commercial landscape of noninvasive prenatal testing in the United States.
Agarwal A et al., Prenatal Diagnosis 2013; 33, 521-531
DNA Sequencing versus standard prenatal aneuploidy screening.
Bianchi DW et al., The New England Journal of Medicine 2014; 370, 799-808.


Position Statement from the Chromosome Abnormality Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis
Benn P et al., International Society for Prenatal Diagnosis. April 2015
ACOG Practice Advisory on Cell-Free DNA Screening
The American Congress of Obstetricians and Gynecologists. April 2015.
Cell-free DNA Screening for Fetal Aneuploidy
The American College of Obstetricians and Gynecologists. September 2015.
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