Download PDF
CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2017; 04(01): 1-6
DOI: 10.1007/s40556-017-0116-4
Editorial

ACMG 2016 Update on Noninvasive Prenatal Testing for Fetal Aneuploidy: Implications for India

I. C. Verma
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, 110060, Rajender Nagar, New Delhi, India
,
R. Dua-Puri
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, 110060, Rajender Nagar, New Delhi, India
,
S. Bijarnia-Mahay
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, 110060, Rajender Nagar, New Delhi, India
› Author Affiliations
› Further Information
  PDF Download Permissions and Reprints

Abstract

ACMG 2016 guidelines for noninvasive prenatal screening (NIPS) are examined in the Indian context, and recommendation made for their adoption. Currently in India, NIPS is not a test that can or should be offered directly to patients. Proper pre-test counseling is essential, during which, the different options should be explained so that the patients can choose the test most appropriate for their situation. NIPS has a greater detection rate than other screening methods (like biochemical screening or ultrasound markers of aneuploidy), and can be performed in place of conventional screening for Patau, Edwards, and Down syndromes, if the patient can afford the cost, and the ultrasound does not show a malformation that is not a part of aneuploidies. The NIPS should be performed at 12 weeks of gestation or later, to reduce ‘no calls’ due to low fetal fraction. In samples that contain less than 4% fetal fraction the confidence in the report is reduced. Testing for sex chromosomes can be included, as these abnormalities are associated with unpredictable prognosis (that is often burdensome), which proves unacceptable to most Indian couples. However, patients should be provided balanced information on the abnormality that has been detected and left to choose the course of action most suited to their situation. Screening for microdeletions can be done if the patient can afford the cost, as microdeletions are more frequent than aneuploidies in young mothers. In some cases diagnosis of a microdeletion is helpful in management of the disorder in the neonatal period leading to a better outcome. The vendors should fulfill their responsibility of educating the patients before offering the test, and giving clear reports in simple understandable language. It is hoped that more vendors will perform the tests locally so that they become cheaper and affordable, as they have greater detection rate than other screening methods.

Keywords

Noninvasive prenatal screening (NIPS) - Noninvasive prenatal testing (NIPT) - Cell-free fetal DNA - Fetal fraction - High-risk women - Low-risk women - Trisomy 21 - Trisomy 13 - Aneuploidies - Sex chromosomal disorders - Microdeletions - Malignancies


Publication History

Received: 23 January 2017

Accepted: 30 January 2017

Article published online:
08 May 2023

© 2017. 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/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India