NIPT reference library

Academic studies and papers associated with NIPD and NIPT

RAPID publications


Chitty LS, Mason S, Barrett AN, McKay F, Lench N, Daley R, Jenkins LA. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. 2015 Feb 26. [Epub ahead of print]

Hill M, Twiss P, Verhoef T, Drury S, McKay F, Mason S, Jenkins L, Morris S, Chitty LS. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. 2015 Feb 24. [Epub ahead of print]


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]

Lo KK, Boustred C, Chitty LS, Plagnol V. RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics. 2014;30(20):2965-7.

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]

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.

Morris S, Karlsen S, Chung N, Hill M, Chitty LS. Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service. PLoS One. 2014 9(4):e93559.

Barrett AN, Chitty LS. Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR. Methods Mol Biol. 2014;1160:215-28.

Daley R, Hill M, Chitty LS. Non-invasive prenatal diagnosis: progress and potential. Arch Dis Child Fetal Neonatal Ed. 2014 99(5):F426-30.

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.

Twiss P, Hill M, Daley R, Chitty LS. Non-invasive prenatal testing for Down syndrome. Semin Fetal Neonatal Med. 2014 19(1):9-14.

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

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. J Clin Med, 2014; 3:76-190.

Daley R, Hill M, Lewis C, Chitty LS. Non-invasive prenatal testing for Down’s syndrome-Where are we now? British Journal of Midwifery. 2014; 22: 85-93.

Silcock C, Liao L-M, Hill M, Chitty LS. Will the introduction of non-invasive prenatal testing for Down’s syndrome undermine informed choice? Health Expectations. 2014; 20 February [Epud ahead of print]

Lewis C, Hill M, Chitty L. Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet. 2014; 85: 336-42


Lewis C, Silcock C, Chitty LS. Non-Invasive Prenatal Testing for Down’s Syndrome: Pregnant Women’s Views and Likely Uptake. Public Health Genomics. 2013 16(5):223-32.

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.

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.

Lench N, Barrett A, Fielding S, McKay F, Hill M, Jenkins L, White H, Chitty LS. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat Diagn. 2013 Jun;33(6):555-62.

Chitty LS, Bianchi DW. Noninvasive prenatal testing: the paradigm is shifting  rapidly. Prenat Diagn. 2013 Jun;33(6):511-3.

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 May;33(5):416-23.

Lewis C, Hill M, Chitty LS. Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet. 2013 Apr 30. [Epub ahead of print]


Deans Z, Hill M, Chitty LS, Lewis C. Non-invasive prenatal testing for single gene disorders: exploring the ethics. Eur J Hum Genet. 2012 Nov 28. [Epub ahead of print] 23188047

Oxenford K, Hill M and Chitty L. Cell-free fetal DNA: emerging applications and future obstacles Expert Rev. Obstet. Gynecol. 2012 7:513–515.

White H, Dent C, Hall V, Crolla J, Chitty L. Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Non-invasive Prenatal Diagnosis.  PLOS ONE. 2012 7 (9) 45073.

Hill M, Fisher J, Chitty LS, Morris S. Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med. 2012 14:905-13.

Deans Z, Newson AJ. Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J Med Ethics. 2012 Jun 28. [Epub ahead of print]

Lewis, C. Hill, M. Skirton, H. Chitty, L.S. Fetal sex determination using free fetal DNA: Service users’ experiences and preferences for how the service should be offered in clinical practice. Prenatal Diagnosis 2012 32:735-41.

Lewis C, Hill M, Skirton H, Chitty LS. Fetal sex determination using cell free fetal DNA: Service users’ experiences of and preferences for service delivery. Eur J Hum Genet. 2012 20:1127-33.

Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia. Clin Chem 2012 58:1026-32.

Chitty LS, Hill M, White H, Wright D, Morris S. Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol. 2012. 206:269-75.

Hill M, Barrett AN, White H, Chitty LS. Uses of cell free fetal DNA in maternal circulation.  Best Pract Res Clin Obstet Gynaecol. 2012 26:639-54.

Hill M, Lewis C, Jenkins L, Allen S, Elles RG, Chitty LS. Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in theUnited Kingdom. Expert Opin Biol Ther. 2012 12 Suppl 1:S119-26

Hill M, Compton C, Lewis C, Skirton H and Chitty LS. Determination of fetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom. Haemophilia 2012. 18:575-83. Epub September 23 2011.


Barrett A, Zimmerman B, Wang D, Holloway A and Chitty LS. Implementing prenatal diagnosis based on cell-free fetal DNA in maternal plasma: Accurate identification of factors affecting cell-free fetal DNA yield. PLoS One. 2011 6(10):e25202. Epub 2011 Oct 4.

Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ: New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 2011; 37:283-9.

Hill MK, Sally Taffinder S, Chitty LS, Morris S: Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat Diagn 2011; 31: 267-73.


Hill MK, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty L: Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2010; 80:68-75