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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2014; 01(03): 131-135
DOI: 10.1007/s40556-014-0023-x
Original Article

Using Noninvasive Prenatal Testing for Aneuploidies in a Developing Country: Lessons Learnt

Pratima Dash
1   Center of Medical Genetics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
,
Ratna D. Puri
1   Center of Medical Genetics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
,
Udhaya Kotecha
1   Center of Medical Genetics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
,
Sunita Bijarnia
1   Center of Medical Genetics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
,
Meena Lall
1   Center of Medical Genetics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
,
Ishwar C. Verma
1   Center of Medical Genetics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
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Abstract

The objective of the present study was to analyze the utility of noninvasive prenatal testing (NIPT) for aneuploidies in a developing country like India. NIPT was offered to 500 pregnant women, after review of data of the ongoing pregnancy. Pre-test counseling included the different methodologies of testing, their benefits, limitations, turnaround time and interpretation of the result and was offered to all. Different vendors were used for the test. The results were explained in a post-test counseling session. The indications of NIPT were positive second (36.6 %) or first (22 %) trimester screen, advanced maternal age with or without positive biochemical screen (24.6 %), ultrasound soft markers (10.8 %), previous history of Down syndrome (4.6 %) and anxious couple (0.1 %). No aneuploidy was detected in 484 samples. In 1 case, no result was available. Fifteen (3 %) cases showed positive results. These included 8 cases of trisomy 21, 3 cases of trisomy 18, 3 cases of monosomy X, and 1 case of triploidy. Confirmatory testing revealed 6 cases (40 %) to be false positive—1 case of trisomy 21, 1 case of trisomy 18, 3 cases of monosomy X, and 1 case of triploidy. Of 484 cases, 230 have delivered healthy neonates, while the rest have yet to deliver. Four cases had to discontinue pregnancy due to complications in later pregnancy but unrelated to the NIPT results. Noninvasive prenatal test qualifies as an ‘advanced’ screening test, and requires invasive diagnostic tests for confirmation of the positive results. The pre- and post-test counseling is essential to appropriately explain the limitations, benefits, and the results to the couple. Recommendations are made for the appropriate deployment of this new technology in developing countries.

Keywords

Noninvasive prenatal test - Aneuploidies - Down syndrome - Screening - Pregnancy - Amniocentesis - Prenatal diagnosis


Publication History

Received: 15 October 2014

Accepted: 27 November 2014

Article published online:
08 May 2023

© 2014. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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