NIPT reference library

Academic studies and papers associated with NIPD and NIPT

Stakeholder views, ethical concerns and counselling issues


Agatisa PK, Mercer MB, Leek AC, Smith MB, Philipson E, Farrell RM. A First Look at Women’s Perspectives on Noninvasive Prenatal Testing to Detect Sex Chromosome Aneuploidies and Microdeletion Syndromes. Prenatal Diagnosis. 2015.

van Schendel RV, Dondorp WJ, Timmermans DR, van Hugte EJ, de Boer A, Pajkrt E, et al. NIPT-based screening for Down syndrome and beyond: what do pregnant women think? Prenatal Diagnosis. 2015. [Epub ahead of print]

de Jong A, de Wert GM. Prenatal screening: an ethical agenda for the near future. Bioethics. 2015;29(1):46-55.

Deans Z, Clarke AJ, Newson AJ. For your interest? The ethical acceptability of using non-invasive prenatal testing to test ‘purely for information’. Bioethics. 2015;29(1):19-25.

de Jong A, Maya I, van Lith JM. Prenatal screening: current practice, new developments, ethical challenges. Bioethics. 2015;29(1):1-8.

Alexander E, Kelly S, Kerzin-Storrar L. Non-Invasive Prenatal Testing: UK Genetic Counselors’ Experiences and Perspectives. Journal of Genetic Counseling. 2015;24(2):300-11.


Skirton H, Goldsmith L, Chitty LS. An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders. EJHG. 2014. [Epub ahead of print]

Lewis C, Choudhury M, Chitty LS. ‘Hope for safe prenatal gene tests’. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing. Prenatal Diagnosis. 2014. [Epub ahead of print]

Kloza EM, Haddow PK, Halliday JV, O’Brien BM, Lambert-Messerlian GM, Palomaki GE. Evaluation of patient education materials: the example of circulating cell free dna testing for aneuploidy. Journal of Genetic Counseling. 2014. 24(2):259-66.

O’Brien BM, Kloza EM, Halliday JV, Lambert-Messerlian GM, Palomaki GE. Maternal plasma DNA testing: experience of women counseled at a prenatal diagnosis center. Genetic Testing and Molecular Biomarkers. 2014;18(10):665-9.

Vanstone M, King C, de Vrijer B, Nisker J. Non-invasive prenatal testing: ethics and policy considerations. JOGC. 2014;36(6):515-26.

Dickens BM. Ethical and legal aspects of noninvasive prenatal genetic diagnosis. Int J Gynaecol Obstet. 2014 124(2):181-4.

Bryant L. Non-invasive prenatal testing for Down’s syndrome: psychologically speaking, what else do we need to know?  J Reprod Infant Psych 2014 32(1): 1-4

Levenson D. Cell-free fetal DNA tests appropriately used by geneticists, often misunderstood by patients: survey finds many patients incorrectly think prenatal screening test is diagnostic. Am J Med Genet A. 2014 Apr;164A(4):vii-viii.

van Schendel RV, Kleinveld JH, Dondorp WJ, Pajkrt E, Timmermans DR, Holtkamp KC, Karsten M, Vlietstra AL, Lachmeijer AM, Henneman L. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening. Eur J Hum Genet. 2014. 22(12):1345-50.

Allyse M, Sayres LC, Goodspeed TA, Cho MK. Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age. J Perinatol. 2014 34(6):429-34.

Lewis C, Hill M, Silcock C, Daley R, Chitty LS. Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users’ views and likely uptake. BJOG. 2014 121(5):582-94.

Hill M, Compton C, Karunaratna M, Lewis C, Chitty L. Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease, Thalassaemia and Cystic Fibrosis. J Genet Couns. 2014 23(6):1012-21.

Hill M, Suri R, Nash E, Morris S, Chitty LS. Preferences for prenatal tests for cystic fibrosis: A discrete choice experiment to compare the views of adult patients, carriers of cystic fibrosis and health professionals. Journal of Clinical Medicine, 2014; 3:76-190.

Yi H, Hallowell N, Griffiths S, Yeung Leung T. Motivations for undertaking DNA sequencing-based non-invasive prenatal testing for fetal aneuploidy: a qualitative study with early adopter patients in Hong Kong. PLoS One. 2013 8(11):e81794.

Sayres LC, Allyse M, Goodspeed TA, Cho MK. Demographic and experiential correlates of public attitudes towards cell-free fetal DNA screening. J Genet Couns. 2014. 23(6):957-67.

Buchanan A, Sachs A, Toler T, Tsipis J. NIPT: current utilization and implications for the future of prenatal genetic counseling. Prenat Diagn. 2014. Apr 7. [Epub ahead of print]

Horsting JM, Dlouhy SR, Hanson K, Quaid K, Bai S, Hines KA. Genetic Counselors’ Experience with Cell-Free Fetal DNA Testing as a Prenatal Screening Option for Aneuploidy. J Genet Couns. 2013 Dec 19. [Epub ahead of print]

Verweij EJ, de Boer MA, Oepkes D. Non-invasive prenatal testing for Trisomy 13; more harm than good? Ultrasound Obstet Gynecol. 2014 Apr 21. [Epub ahead of print]

Rose NC, Eller AG. The impact of noninvasive fetal evaluation: its effect on education, training, and the maintenance of clinical competence in prenatal diagnosis. Curr Opin Obstet Gynecol. 2014 Apr;26(2):117-23.

Kaposy C. A disability critique of the new prenatal test for Down syndrome. Kennedy Inst Ethics J. 2013 Dec;23(4):299-324.

Nelson B. Racing into the unknown: the field of noninvasive prenatal testing is in overdrive. But where is it heading? Cancer Cytopathol. 2014 Feb;122(2):79-80.

Kellogg G, Slattery L, Hudgins L, Ormond K. Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing. J Genet Couns. 2014 Feb 1. [Epub ahead of print]

Vahanian SA, Baraa Allaf M, Yeh C, Chavez MR, Kinzler WL, Vintzileos AM. Patient acceptance of non-invasive testing for fetal aneuploidy via cell-free fetal DNA. J Matern Fetal Neonatal Med. 2014 27(1):106-9.

Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L. Offering prenatal diagnostic tests: European guidelines for clinical practice guidelines. Eur J Hum Genet. 2014 22(5):580-6.


Verweij EJ, Oepkes D, de Vries M, van den Akker ME, van den Akker ES, de Boer MA. Non-invasive prenatal screening for trisomy 21: What women want and are willing to pay. Patient Educ Couns. 2013 93(3):641-5.

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.

Oxenford K, Silcock C, Hill M, Chitty L. Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: an investigation into the preferences and information needs of women. Prenat Diagn. 2013 Jul;33(7):688-94.

Skirton H, Patch C. Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review. Prenat Diagn. 2013 Jun;33(6):532-41.

Davis DS. Opportunistic testing: the death of informed consent? Health Matrix Clevel. 2013 Spring;23(1):35-54.

Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S. Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn. 2013 Jun;33(6):521-31.

Vahanian SA, Allaf MB, Yeh C, Chavez MR, Kinzler WL, Vintzileos AM. Patient Acceptance of Non-invasive Testing for Fetal Aneuploidy via Cell-free Fetal DNA. J Matern Fetal Neonatal Med. 2013 May 20. [Epub ahead of print] S

Allyse MA, Sayres LC, Havard M, King JS, Greely HT, Hudgins L, Taylor J, Norton ME, Cho MK, Magnus D, Ormond KE. Best ethical practices for clinicians and laboratories in the provision of non-invasive prenatal testing. Prenat Diagn. 2013 33(7):656-61.

Musci TJ, Fairbrother G, Batey A, Bruursema J, Struble C, Song K. Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenat Diagn. 2013 33:424-8.

Song K, Musci T, Caughey AB. Clinical Utility and Cost of Non-Invasive Prenatal Testing with cfDNA Analysis in High Risk Women Based on a U.S. Population. J Matern Fetal Neonatal Med. 2013 Jan 28. [Epub ahead of print]

Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, Campion MW, Devary K, Devers P, Singletary CN. NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy. J Genet Couns. 2013 22:4-15.

Verweij EJ, Oepkes D, de Boer MA. Changing attitudes towards termination of pregnancy for trisomy 21 with non-invasive prenatal trisomy testing: a population-based study in Dutch pregnant women. Prenat Diagn. 2013 Feb 14. [Epub ahead of print]


Hahn S, Hösli I, Lapaire O. Non-invasive prenatal diagnostics using next generation sequencing: technical, legal and social challenges. Expert Opin Med Diagn. 2012 6(6):517-528.

Choolani M, Biswas A. Patients’ perception of risk: informed choice in prenatal testing for foetal aneuploidy. SingaporeMed J. 2012 Oct;53(10):633-7.

Lau TK, Chan MK, Salome Lo PS, Connie Chan HY, Kim Chan WS, Koo TY, Joyce Ng HY, Pooh RK. Non-invasive prenatal screening of fetal sex chromosomal abnormalities- perspective of pregnant women. J Matern Fetal Neonatal Med. 2012 Jul 30. [Epub ahead of print]

Deans Z, Newson AJ. Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J Med Ethics. 2012 38(10):614-8.

Sayres LC, Allyse M, Cho MK. Integrating stakeholder perspectives into the translation of cell-free fetal DNA testing for aneuploidy. Genome Med. 2012 4:49.

Yotsumoto J, Sekizawa A, Koide K, Purwosunu Y, Ichizuka K, Matsuoka R, Kawame H, Okai T. Attitudes toward non-invasive prenatal diagnosis among pregnant women and health professionals in Japan. Prenat Diagn. 2012 32(7):674-9.

Kelly SE, Farrimond HR. Non-Invasive Prenatal Genetic Testing: A Study of Public Attitudes. Public Health Genomics. 2012 15(2):73-81


Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE. Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake.  Prenat Diagn. 2011.  31:1292-9.

Sayres LC, Allyse M, Norton ME, Cho MK. Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat Diagn 2011 31:1070-6.

de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM. Advances in prenatal screening: the ethical dimension. Nat Rev Genet 2011;12: 657-63.

de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM. Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment. Hum Reprod 2011; 26 (11): 2915-7

Deans Z, Newson A. Should non-invasiveness change informed consent procedures for prenatal diagnosis? Health Care Analysis 2011 19(2):122-32.


de Jong A, Dondorp WJ, de Die-Smulders CEM, Frints SGM, de Wert GMWR. Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet 2010. 18:272-7.

Van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, Marteau TM. Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Education and Counselling. 2010. 78:24-8.

Hall A, Bostanci A, Wright CF. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics. 2010; 13: 246-55.


Kooij L, Tymstra T, van den Berg P. The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. 2009. 29:164-168.

Benn PA, Chapman AR. Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA. 2009. 301(20) 2154-6.

Van den Heuvel A, Chitty L, Dormandy E, Newson A, Attwood S, Ma R, Masturzo B, Pajkrt E, Marteau TM. Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia. BJOG 2009. 116:880-885.

Schmitz D, Henn W, Netzer C. ‘Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing’ BMJ 2009; 339; b2690 19581325

Wright CF. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis. Report of the UKexpert working group. 2009 Available online from: http://wwwphgfoundationorg/reports/4985.


Kent A. Non-invasive prenatal diagnosis: public and patient perceptions. Semin Fetal Neonatal Med. 2008. 13:109-12.

Newson AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med. 2008. 13(2):103-108.


Zamerowski ST, Lumley MA, Arreola RA, et al. Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood. Genet Med. 2001; 3: 301-9.