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A Unique NIPT Discordance: FISH Comes to Rescue

1, 1, 1, 2, 1

  1. 1Department of Molecular Genetics, Neuberg Supratech Reference Laboratories, Ahmedabad, Gujarat, INDIA.
  2. 2Department of Pathology and Laboratory Medicine, Center for Genomics and Advanced Technologies, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, UNITED STATES OF AMERICA.
  3. 3Department of Hematology and Oncology, Norris Cotton Cancer Center, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, UNITED STATES OF AMERICA.

CORRESPONDENCE

Shiva Murarka

Department of Molecular Genetics, Neuberg Supratech Reference Laboratories, Ahmedabad, Gujarat, INDIA.

shiva.murarka@ncgmglobal.com

Received: 15-02-2023; Revised: 13-03-2023; Accepted: 22-03-2023.

Volume 12, Issue 1 · pp. 203-205 · 2023 · DOI: 10.5530/ajbls.2023.12.28

ABSTRACT

Detection of mosaicism in prenatal genetic screening or diagnostic tests has always been a challenge both technologically and in predicting clinical outcomes. Riddled with concerns of false positives, confined mosaicism and other technological limitations, mosaicism can pose significant challenges in leading to an accurate diagnosis. Here we present a case where unique mosaicism was detected following a case of the high-risk non-invasive prenatal screening test (NIPT). Currently, as the most sensitive prenatal screening test, NIPT has proven consistency in even identifying mosaic cases of trisomies. Choosing the appropriate confirmatory test for a highrisk NIPT becomes all the more important for accurate counselling, diagnosis and taking further reproductive decisions.

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    Rajakumar, N., Sharda, S., Bhatt, S., Shah, P., & Murarka, S. (2023). A Unique NIPT Discordance: FISH Comes to Rescue. Asian Journal of Biological and Life Sciences, 12(1), 203-205. https://doi.org/10.5530/ajbls.2023.12.28

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    © 2023 Author(s)

    This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited. CC BY 4.0