NIPD for single gene disorders

Academic studies and papers associated with NIPD and NIPT

NIPD for single gene disorders


Chitty LS, Mason S, Barrett AN, McKay F, Lench N, Daley R, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenatal Diagnosis. 2015. [Epub ahead of print]

van den Oever JM, Bijlsma EK, Feenstra I, Muntjewerff N, Mathijssen IB, Bakker E, et al. Noninvasive prenatal diagnosis of Huntington Disease; detection of the paternally inherited expanded CAG repeat in maternal plasma. Prenatal Diagnosis. 2015. [Epub ahead of print]

Xu Y, Li X, Ge HJ, Xiao B, Zhang YY, Ying XM, et al. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma. 2015. [Epub ahead of print]

Xiong L, Barrett AN, Hua R, Tan TZ, Ho SS, Chan JK, et al. Non-invasive prenatal diagnostic testing for beta-thalassaemia using cell-free fetal DNA and next generation sequencing. Prenatal Diagnosis. 2015;35(3):258-65.

Liu S, Chen L, Zhang X, Li J, Lin H, Liu L, et al. Primer-introduced restriction analysis polymerase chain reaction method for non-invasive prenatal testing of beta-thalassemia. Hemoglobin. 2015;39(1):18-23.

Lv W, Wei X, Guo R, Liu Q, Zheng Y, Chang J, et al. Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART). Clinical Chemistry. 2015;61(1):172-81.


Zilberman D, Parikh LI, Skinner M, Landy HJ. Prenatal Diagnosis of androgen insensitivity syndrome using cell free fetal DNA. Ultrasound in Obstetrics and Gynecology. 2014.

Chitty LS. Cell-free DNA testing: An aid to prenatal sonographic diagnosis. Best Pract Res Clin Obstet Gynaecol. 2014. 28(3):453-66.

You Y, et al. Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease. Genet Med. 2014 16(8):594-600.

Gu W, Koh W, Blumenfeld YJ, El-Sayed YY, Hudgins L, Hintz SR, Quake SR. Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med. 2014 16(7):564-7

Ma D, Ge H, Li X, Jiang T, Chen F, Zhang Y, Hu P, Chen S, Zhang J, Ji X, Xu X, Jiang H, Chen M, Wang W, Xu Z. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing. Gene. 2014 Apr 24. pii: S0378-1119(14)00486-7.

New MI, Tong YK, Yuen T, Jiang P, Pina C, Chan KC, Khattab A, Liao GJ, Yau M, Kim SM, Chiu RW, Sun L, Zaidi M, Lo YM. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma. J Clin Endocrinol Metab. 2014 99(6):E1022-30.

Poursadegh Zonouzi AA, Poursadegh Zonouzi A, Ghorbian S. Cell-free fetal DNA: new perspective and clinical implication in diagnosis of polycystic kidney diseases. Ren Fail. 2014 36(4):661.

Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Next generation sequencing  of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Eur J Hum Genet. 2013 21(12):1403-10.

Galbiati S, Stenirri S, Sbaiz L, Barberis M, Cremonesi L, Restagno G, Ferrari M. Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. Clin Chem Lab Med. 2014 52(4):505-9


Dundar Yenilmez E, Tuli A, Evrüke IC. Noninvasive prenatal diagnosis experience in the Çukurova Region of Southern Turkey: Detecting paternal mutations of sickle cell anemia and beta-thalassemia in cell-free fetal DNA using high-resolution melting analysis. Prenat Diagn. 2013 Jul 8. doi: 10.1002/pd.4196. [Epub ahead of print] PubMed PMID: 23836351.

Hill M, Karunaratna M, Lewis C, Forya F, Chitty L. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the united kingdom. Am J Med Genet A. 2013 Jul;161(7):1612-8. doi: 10.1002/ajmg.a.35972. Epub 2013 May 21. PubMed PMID: 23696422.

Ge H, Huang X, Li X, Chen S, Zheng J, Jiang H, Zhang C, Pan X, Guo J, Chen F, Chen N, Fang Q, Jiang H, Wang W. Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia. PLoS One. 2013 Jun 28;8(6):e67464. doi:10.1371/journal.pone.0067464. Print 2013. PubMed PMID: 23840709; PubMed CentralPMCID: PMC3696090.

Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Eur J Hum Genet. 2013 Apr 10. [Epub ahead of print]

D’Souza E, Sawant PM, Nadkarni AH, Gorakshakar A, Ghosh K, Colah RB. Detection of fetal mutations causing hemoglobinopathies by non-invasive prenatal diagnosis  from maternal plasma. J Postgrad Med. 2013 59:15-20.

Papasavva TE, Lederer CW, Traeger-Synodinos J, Mavrou A, Kanavakis E, Ioannou C, Makariou C, Kleanthous M. A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β-Thalassaemia. Ann Hum Genet. 2013 77(2):115-24.

Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 2013 Feb 14 [Epub ahead of print]


Macher HC, Martinez-Broca MA, Rubio-Calvo A, Leon-Garcia C, Conde-Sanchez M, Costa A, Navarro E, Guerrero JM. Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis  from maternal serum. PLoS One. 2012;7(12):e51024.

Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, Chiu RW, Lo YM. Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia. Clin Chem. 2012 58:1467-75.

Mouawia H, Saker A, Jais JP, Benachi A, Bussières L, Lacour B, Bonnefont JP, Frydman R, Simpson JL, Paterlini-Brechot P. Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy. Reprod Biomed Online. 2012 25:508-20.

Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia. Clin Chem 2012 Mar 26. [Epub ahead of print] 22451622

Galbiati S, Brisci A, Damin F, Gentilin B, Curcio C, Restagno G, Cremonesi L, Ferrari M. Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia. Expert Opin Biol Ther. 2012 Apr 16. [Epub ahead of print]

Phylipsen M, Yamsri S, Treffers EE, Jansen DT, Kanhai WA, Boon EM, Giordano PC, Fucharoen S, Bakker E, Harteveld CL. Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. Prenat Diagn. 2012 20:1-10.


Sirichotiyakul S, Charoenkwan P, Sanguansermsri T. Prenatal diagnosis of homozygous alpha-thalassemia-1 by cell-free fetal DNA in maternal plasma. Prenat Diagn. 2011 Oct 26. doi: 10.1002/pd.2892. [Epub ahead of print]

Yan TZ, Mo QH, Cai R, Chen X, Zhang CM, Liu YH, Chen YJ, Zhou WJ, Xiong F, Xu XM. Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma. PLoS One. 2011;6(9):e24779. Epub 2011 Sep 29.

Mortarino M, Garagiola I, Lotta LA, Siboni SM, Semprini AE, Peyvandi F. Non-invasive tool for foetal sex determination in early gestational age. Haemophilia. 2011. 17(6):952-6.

Tsui NB, Kadir RA, Chan KC, Chi C, Mellars G, Tuddenham EG, Leung TY, Lau TK, Chiu RW, Lo YM. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood. 2011. 117(13):3684-91


Lo YM, Chiu RW. Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma. Hematol Oncol Clin North Am. 2010 24(6):1179-86. Epub 2010 Sep 29.


Li Y, Di Naro E, Vitucci A, Grill S, Zhong XY, Holzgreve W, Hahn S. Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited β-thalassemia point mutation by MALDI-TOF mass spectrometry. 2009. Fetal Diagn Ther 25:246-249.

Meaney C, Norbury G. Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma. Prenatal Diagnosis. 2009. 29(13):1218-21.


Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, Ramos C. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma. J Cyst Fibros. 2008. 7(6):505-10.

Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, Rodriguez de Alba M, Gonzalez-Gonzalez C, Cantalapiedra D, Ayuso C, Ramos C. Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study. Eur J Neurol. 2008. 15(12):1338-44.

Lun FM,  Tsui NBChan KCLeung TYLau TKCharoenkwan PChow KCLo WYWanapirak CSanguansermsri TCantor CRChiu RWLo YM. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Nat Acad Sci. 2008. 105(50):19920-19925.

Papasavva T, Kalikas I, Kyrri A, Kleanthous M. Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms. Ann N Y Acad Sci. 2008. 1137:302-8.


Li Y, Page-Christiaens GC, Gille JJ, Holzgreve W, Hahn S. Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn. 2007. 27(1):11-7.


Bustamante-Aragones A, Garcia-Hoyos M, Rodriguez DE Alba M, Gonzalez-Gonzalez C, Lorda-Sanchez I, Diego-Alvarez D, Trujillo-Tiebas MJ, Ayuso C, Ramos C. Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing. Ann N Y Acad Sci. 2006. 1075:108-17.

Papasavva T, Kalakoutis G, Kalikas I, Neokli E, Papacharalambous S, Kyrri A, Kleanthous M. Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia. Ann N Y Acad Sci. 2006. 1075148-53.

Tungwiwat W, Fucharoen S, Fucharoen G, Ratanasiri T, Sanchaisuriya K. Development and application of a real-time quantitative PCR for prenatal detection of fetal alpha(0)-thalassemia from maternal plasma. Ann N Y Acad Sci. 2006. 1075:103-7.


Li Y, Di Naro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA. 2005. 293(7):843-9.


Nasis O, Thompson S, Hong T, Sherwood M, Radcliffe S, Jackson L, Otevrel T. Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis. Clinical Chemistry. 2004. 50(4):694-701.


Chiu RW, Lau TK, Cheung PT, Gong ZQ,LeungTN, Lo YM. Non invasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem. 2002. 48(5):778-80.

Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet. 2002. 360(9338):998-1000.

González-González MC, García-Hoyos M, Trujillo MJ, Rodríguez de Alba M, Lorda-Sánchez I, Díaz-Recasens J, Gallardo E, Ayuso C, Ramos C. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn. 2002. 22(10):946-8.


Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000. 46(2):301-2.