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Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India.

Ishwar Chander Verma1, Ratna Puri1, Eswarachary Venkataswamy2

  • 11Sir Ganga Ram Hospital, New Delhi, India.

Journal of Obstetrics and Gynaecology of India
|November 13, 2018
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Summary
This summary is machine-generated.

This study shows SNP-based noninvasive prenatal testing (NIPT) performs comparably to international standards in India. The NIPT accurately detected chromosomal aneuploidies, demonstrating its effectiveness for prenatal screening in diverse populations.

Keywords:
Chromosomal aneuploidiesIndiaNIPTPrenatal screeningSNPTrisomy 13Trisomy 18Trisomy 21

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Area of Science:

  • Genetics
  • Molecular Biology
  • Obstetrics

Background:

  • Noninvasive prenatal testing (NIPT) has transformed prenatal screening for chromosomal aneuploidies globally.
  • Implementation in developing nations, including India, has been inconsistent.
  • Genetic variations across populations necessitate localized performance evaluations of NIPT.

Purpose of the Study:

  • To assess the performance of single-nucleotide polymorphism (SNP)-based NIPT in the Indian population.
  • To evaluate NIPT's accuracy in detecting chromosomal aneuploidies in an Indian cohort.

Main Methods:

  • The Panorama™ NIPT assay was utilized in 516 pregnancies with intermediate-to-high risk results from conventional screening.
  • Results were validated through invasive diagnostic testing or postnatal clinical evaluation.
  • Analysis included calculation of sensitivity, specificity, and positive predictive values.

Main Results:

  • A success rate of 97.7% was achieved, with 499 out of 511 samples yielding results.
  • 100% sensitivity was observed for trisomies 21, 18, 13, and sex chromosomal abnormalities.
  • Specificity ranged from 99.3% to 100%, with a positive predictive value of 85.7% for common trisomies and monosomy X.

Conclusions:

  • This study represents the first detailed report on NIPT experience in India.
  • SNP-based NIPT demonstrated performance comparable to global benchmarks.
  • NIPT is a viable and accurate tool for prenatal screening in India.