ArticleJournal of obstetrics and gynaecology of India2018
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India.
Article in Journal of obstetrics and gynaecology of India, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Systematic Review of Accuracy Differences in NIPT Methods for Common Aneuploidy Screening.Journal of clinical medicine · 2025Review
- Article
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center.Archives of gynecology and obstetrics · 2022Article
- The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region.Medicina (Kaunas, Lithuania) · 2020Article
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Authors and funding
23 authors.
Funding
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Abstract
introductionNoninvasive prenatal testing (NIPT) has revolutionized prenatal screening for chromosomal aneuploidies in some countries. Its implementation has been sporadic in developing countries. Given the genetic variation of the people in different countries, we evaluated the performance of the SNP-based NIPT in India . MATERIALS AND
methodsThe Panorama™ NIPT was performed in 516 pregnancies, which had tested intermediate-to-high risk on conventional first and second trimester screening. Results were confirmed either by invasive diagnostic testing or by clinical evaluation after birth.
resultsOf 511 samples analyzed, results were obtained in 499 (97.7%). Of these, 480 (98.2%) were low risk and 19 were high risk. A sensitivity of 100% was obtained for detection of trisomies 21, 18, 13 and sex chromosomal abnormalities. The specificity ranged from 99.3 to 100% for abnormalities tested. Taken together, the positive predictive value for trisomies 21, 18, 13 and monosomy X was 85.7%. The average fetal fraction was 8.2%, which is lower than the average observed elsewhere.
conclusionThis is the first report of detailed experience with NIPT in India and demonstrates comparable performance in all aspects of testing to the results elsewhere.
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