Literature DB >> 33829520

Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered.

Lieve Christiaens1,2, Lyn S Chitty3,4, Sylvie Langlois5.   

Abstract

Non-invasive prenatal testing (NIPT) based on analysis of cell free DNA circulating in the maternal plasma has been available clinically to screen for chromosomal abnormalities since 2011. There is significant evidence to suggest that NIPT has revolutionised prenatal screening for the common trisomies 13, 18, and 21. However, the evidence in favour of its extended use to screen for conditions other than these trisomies remains a topic of debate with no national or international organisation supporting clinical implementation for these indications. In the debate presented here - "Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered" - we will see the pros and cons of screening for a wider range of chromosomal problems. The discussion presented swung the vote from 65% in favour and 35% against before the arguments were voiced to 41% in favour and 59% against. This significant swing in the vote indicates that the majority of our community feel more evidence is required before clinical implementation of extended NIPT.
© 2021 John Wiley & Sons Ltd.

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Year:  2021        PMID: 33829520     DOI: 10.1002/pd.5943

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  Video education about genetic privacy and patient perspectives about sharing prenatal genetic data: a randomized trial.

Authors:  Christian M Parobek; Margaret M Thorsen; Phinnara Has; Paula Lorenzi; Melissa A Clark; Melissa L Russo; Adam K Lewkowitz
Journal:  Am J Obstet Gynecol       Date:  2022-03-26       Impact factor: 10.693

2.  Patient experience with non-invasive prenatal testing (NIPT) as a primary screen for aneuploidy in the Netherlands.

Authors:  Syanni A Kristalijn; Karen White; Deanna Eerbeek; Emilia Kostenko; Francesca Romana Grati; Caterina M Bilardo
Journal:  BMC Pregnancy Childbirth       Date:  2022-10-20       Impact factor: 3.105

3.  Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.

Authors:  Thomas Harasim; Teresa Neuhann; Anne Behnecke; Miriam Stampfer; Elke Holinski-Feder; Angela Abicht
Journal:  J Clin Med       Date:  2022-01-13       Impact factor: 4.241

  3 in total

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