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Abstract

July - September 2022 | Vol. 15 | Issue 3 | 12-13
Non-Invasive Prenatal Testing (NIPT) – Utility Beyond Aneuploidies
Maitri Jain
Department of Medical Genetics, Kasturba Medical College, Manipal | Manipal Academy of Higher Education, Manipal, India
Address for Correspondence Email: memaitri12@gmail.com
 
Abstract
This is the largest cohort study in clinical practice, which aimed to assess the performance of NIPT in 2208 women with singleton pregnancies, using a next generation sequencing (NGS) – based panel of 30 genes causing 25 clinically significant dominant single-gene disorders (SGDs). Sampling was done around 9 weeks of gestation. Only pathogenic and likely pathogenic variants based on the American College of Medical Genetics and Genomics (ACMG) guidelines were reported. A total of 125/2208 women (5.7%) screened positive. Of these, 104 pathogenic, 21 likely pathogenic and 15/125 novel variants were observed. No false positive results were found. The authors concluded that NIPT could assist in the early detection of a set of SGDs, particularly when either abnormal ultrasound findings or a family history was present. Despite its high degree of certainty, the authors did not regard NIPT-SGD as diagnostic and advocated confirmatory testing.
 
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