Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective
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Uptake of noninvasive prenatal testing (NIPT) is rapidly expanding around the world. Here, we provide an overview of the current global state of NIPT, describe the expansion of the test menu, highlight alternative prenatal test service delivery, and discuss NIPT counseling considerations. We also provide a perspective on utilisation of NIPT in India, which has unique challenges for implementing NIPT given its large population, vast territory, and diverse ethnic groups. The barriers to implementation of NIPT in India are also discussed. Current recommendations regarding use of NIPT made by professional societies vary in different regions and such recommendations for NIPT in India will be helpful to provide general guidance to the health care providers, but will likely require modifications for implementation in India.
KeywordsNoninvasive prenatal testing (NIPT) Noninvasive prenatal screening (NIPS) Cell-free DNA (cfDNA) India Counselling Prenatal Diagnosis Techniques Act Limitations Guidelines
The authors would like to thank Kristine Jinnett, Sucheta Bhatt, Christin Coffeen, and Kirsten Curnow (Illumina, Inc.) for their assistance in the preparation of the manuscript.
Compliance with Ethical Standards
Conflict of interest
JM is an employee of Illumina, Inc. VA, ML, SB, RDP and ICV are employees of Institute of Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi.
- 12.The American College of Obstetricians and Gynecologists, Society for Maternal Fetal Medicine. Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979–81.Google Scholar
- 14.Human Genetics Society of Australasia/Royal Australian New Zealand College of Obstetrics and Gynaecology. Prenatal screening and diagnosis of chromosomal and genetics conditions in the fetus in pregnancy, 2016 [23 Aug 2019]. https://www.ranzcog.edu.au/RANZCOG_SITE/media/RANZCOG-MEDIA/Women%27s%20Health/Statement%20and%20guidelines/Clinical-Obstetrics/Prenatal-screening_1.pdf?ext=.pdf.
- 16.Chitty LS, Wright D, Hill M, Verhoef TI, Daley R, Lewis C, et al. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ. 2016;354:i3426.PubMedPubMedCentralCrossRefGoogle Scholar
- 23.Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014;43(3):254–64.PubMedCrossRefGoogle Scholar
- 41.The Pre-natal Diagnostic Techniques (Regulation And Prevention of Misuse) ACT, 1994 (Act No. 57 of 1994). http://chdslsa.gov.in/right_menu/act/pdf/PNDT.pdf.
- 42.The Pre-natal Diagnostic Techniques (Regulation and prevention of Misuse) Amendment Act, 2002 (Act No. 14 of 2003). Ministry of Health, Government of India.Google Scholar
- 43.The Pre-conception and Prenatal Diagnostic Techniques (Prohibition of Sex Selection) Act 1994, with Amendments Rules (2006). Universal Law Publishing. Lexis Nexis. Gurgaon, Haryana. India.Google Scholar