NIPT reference library

Academic studies and papers associated with NIPD and NIPT

Whole fetal genome studies


Lo YM. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing. Reprod Biomed Online. 2013 Sep 7. doi:pii: S1472-6483(13)00466-5. 10.1016/j.rbmo.2013.08.008. [Epub ahead of print] PubMed PMID: 24140310.

Chen S, Lau TK, Zhang C, Xu C, Xu Z, Hu P, Xu J, Huang H, Pan L, Jiang F, ChenF, Pan X, Xie W, Liu P, Li X, Zhang L, Li S, Li Y, Xu X, Wang W, Wang J, Jiang H, Zhang X. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013 Jun;33(6):584-90.

Papageorgiou EA, Patsalis PC. Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery. BMC Med. 2013 Feb 27;11:56.

Chen S, Ge H, Wang X, Pan X, Yao X, Li X, Zhang C, Chen F, Jiang F, Li P, Jiang H, Zheng H, Zhang L, Zhao L, Wang W, Li S, Wang J, Wang J, Yang H, Li Y, Zhang X. Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing. Genome Med. 2013 Feb 27;5(2):18.

Hui L, Bianchi DW. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet. 2013 29:84-91.


Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR. Non-invasive prenatal measurement of the fetal genome. Nature. 2012 487(7407):320-4.

Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012; 4:137ra76.


Lo DYM, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RWK. Maternal plasma DNA sequencing reveals the genome-wide genetics and mutational profile of the fetus. Sci Transl Med. 2010 8;2:61ra91.