NIPT reference library

Academic studies and papers associated with NIPD and NIPT



Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. EJHG. 2015.

Cuckle H, Benn P, Pergament E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Clinical Biochemistry. 2015. [Epub ahead of print]

Manegold-Brauer G, Berg C, Flock A, Ruland A, Gembruch U, Geipel A. Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. Archives of Gynecology and Obstetrics. 2015.

Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, et al. Non-invasive prenatal testing: a review of international implementation and challenges. International Journal of Women’s Health. 2015;7:113-26.

Thung DT, Beulen L, Hehir-Kwa J, Faas BH. Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories. Expert Review of Molecular Diagnostics. 2015;15(1):111-24.

Poon CF, Tse WC, Kou KO, Leung KY. Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening. Fetal Diagnosis and Therapy. 2015;37(2):141-7.


Toews M, Caulfield T. Physician liability and non-invasive prenatal testing.  JOGC. 2014;36(10):907-14.

Chan YM, Leung WC, Chan WP, Leung TY, Cheng YK, Sahota DS. Women’s uptake of non-invasive DNA testing following a high-risk screening test for trisomy 21 within a publicly funded healthcare system: findings from a retrospective review. Prenatal Diagnosis. 2014. [Epub ahead of print]

Sago H, Sekizawa A. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience. Prenatal Diagnosis. 2014. [Epub ahead of print]

Gil MM, Giunta G, Macalli EA, Poon LC, Nicolaides KH. UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake. Ultrasound in Obstetrics and Gynecology. 2014.

Hill M, Wright D, Daley R, Lewis C, McKay F, Mason S, et al. Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy and Childbirth. 2014;14:229.

Sago H, Sekizawa A. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: one-year experience. Prenatal Diagnosis . 2014.

Michaelson-Cohen R, Gershoni-Baruch R, Sharoni R, Shochat M, Yaron Y, Singer A. Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma for Detection of Fetal Aneuploidy. Fetal Diagnosis and Therapy. 2014;36(3):242-4.

Pettit KE, Hull AD, Korty L, Jones MC, Pretorius DH. The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience. Journal of Perinatology. 2014;34(10):750-3.

Wax JR, Cartin A, Chard R, Lucas FL, Pinette MG. Noninvasive prenatal testing: Impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection. Journal of Clinical Ultrasound 2014. [Epub ahead of print]

Capoluongo E, Plebani M. Circulating fetal cell-free DNA and prenatal molecular diagnostics: are we ready for consensus? Clin Chem Lab Med. 2014 52(5):609-11.

Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH. Replacing the Combined Test by Cell-Free DNA Testing in Screening for Trisomies 21, 18 and 13: Impact on the Diagnosis of Other Chromosomal Abnormalities. Fetal Diagn Ther. 2014 Feb 8. [Epub ahead of print]

Louis-Jacques A, Burans C, Robinson S, Schofield E, Smulian J, Rochon M. Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates  of invasive testing. Obstet Gynecol. 2014 May;123 Suppl 1:67S.

Louis-Jacques A, Burans C, Robinson S, Schofield E, Smulian J, Rochon M. Use of commercial tests for aneuploidy screening using cell-free fetal DNA in clinical practice. Obstet Gynecol. 2014 May;123 Suppl 1:154S.

Braverman A, Dungan JS, Ginsberg NA, Shulman LP. Invasive prenatal diagnosis after positive cell-free fetal DNA compared with sequential prenatal screening. Obstet Gynecol. 2014 May;123 Suppl 1:41S.

Turner AL, Rad S, Afshar Y, Aghajanian P, Williams J 3rd, Esakoff TF. Declining rate of invasive procedures for prenatal diagnosis in the era of noninvasive prenatal testing. Obstet Gynecol. 2014 May;123 Suppl 1:196S-7S.

Pettit KE, Hull AD, Korty L, Jones MC, Pretorius DH. Noninvasive prenatal testing: a replacement for chorionic villus sampling and amniocentesis for advanced maternal age? Obstet Gynecol. 2014 May;123 Suppl 1:165S-6S.

Rad S, Turner AL, Beauchamp S, Aghajanian P, Williams J 3rd, Esakoff TF. Noninvasive prenatal testing compared with invasive diagnostic testing in the setting of an abnormal state aneuploidy screen. Obstet Gynecol. 2014 May;123 Suppl 1:100S.

Ferres MA, Hui L, Bianchi DW. Antenatal Noninvasive DNA Testing: Clinical Experience and Impact. Am J Perinatol. 2014 Mar 28. [Epub ahead of print]

Platt LD, Janicki MB, Prosen T, Goldberg JD, Adashek J, Figueroa R, Rodis J,Liao W, Sehnert AJ, Snyder HL, Warsof SL. Impact of Noninvasive Prenatal Testing  in Regionally Dispersed Medical Centers in the United States. Am J Obstet Gynecol. 2014 Apr 3. pii: S0002-9378(14)00334-2.

Haymon L, Simi E, Moyer K, Aufox S, Ouyang DW. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists. Prenat Diagn. 2014 34(5):416-23.

Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A; Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol. 2014 Mar;43(3):265-71.

Beamon CJ, Hardisty EE, Harris SC, Vora NL. A single center’s experience with noninvasive prenatal testing. Genet Med. 2014 Mar 27. [Epub ahead of print]

Taylor JB, Chock VY, Hudgins L. NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability. J Genet Couns. 2014 23(1):72-8.


Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn. 2013 Jun;33(6):542-6.

Mozersky J, Mennuti MT. Cell-free fetal DNA testing: who is driving implementation? Genet Med. 2013 Jun;15(6):433-4.

Swanson A, Sehnert AJ, Bhatt S. Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners. Curr Genet Med Rep. 2013 1:113-121.

Norton ME, Rose NC, Benn P. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet Gynecol. 2013 121:847-50.

Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics, Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS. ACMG statement on noninvasive prenatal screening for  fetal aneuploidy. Genet Med. 2013 15:395-8. 2013.

Wald NJ, Bestwick JP. Incorporating DNA sequencing into current prenatal screening practice for Down’s syndrome. PLoS One. 2013;8(3):e58732. Epub 2013 Mar 20.

Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P. Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors. J Genet Couns. 2013 22(1):4-15.

Goodspeed TA, Allyse M, Sayres LC, Norton ME, Cho MK. Translating cell-free fetal DNA technology: structural lessons from non-invasive RhD blood typing.  Trends Biotechnol. 2013 31(1):7-9.


Garfield SS, Armstrong SO. Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies. J Managed Care Med 2012;15;34-41.

Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012 120:1532-4.

Allyse M, Sayres LC, King JS, Norton ME, Cho MK. Cell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US context. Hum Reprod. 2012 Aug 3. [Epub ahead of print]

Sayres LC, Allyse M, Goodspeed TA, Cho MK. In the public interest? Sci Transl Med. 2012 Jul 25;4(144):144fs23.

Lau TK, Chan MK, Salome Lo PS, Connie Chan HY, Kim Chan WS, Koo TY, Joyce Ng HY, Pooh RK. Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience. J Matern Fetal Neonatal Med. 2012 25(10):1856-9.