More than an Incidentaloma: The Nonreportable NIPT

Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman’s results are nonre...

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Main Authors: Allison M. Jay, Brian Mason, Daniel Lebovic, Paul Chuba
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2022/2496057
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author Allison M. Jay
Brian Mason
Daniel Lebovic
Paul Chuba
author_facet Allison M. Jay
Brian Mason
Daniel Lebovic
Paul Chuba
author_sort Allison M. Jay
collection DOAJ
description Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman’s results are nonreportable. Reasons include low fetal fraction, insufficient DNA, vanishing twin, twin pregnancy, clonal mosaicism, and maternal neoplasia. Here, we describe a 25-year-old G2P1 pregnant woman who had two nonreportable NIPT results and subsequently was diagnosed with lymphoma. We discuss the importance of clinical exam in correlation with the results to offer comprehensive evaluation of the patient with a nonreportable finding, given malignancy occurs in 1/1000 pregnant women. This report overviews proposed management guidelines for pregnant women with a nonreportable result and helps to address discomfort the treating physician may feel in discussing this result with their patient.
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series Case Reports in Obstetrics and Gynecology
spelling doaj-art-57bbd41c80e1444ca70b7b020bb9cb3d2025-02-03T01:22:56ZengWileyCase Reports in Obstetrics and Gynecology2090-66922022-01-01202210.1155/2022/2496057More than an Incidentaloma: The Nonreportable NIPTAllison M. Jay0Brian Mason1Daniel Lebovic2Paul Chuba3Ascension St. John GeneticsAscension St. John Obstetrics and GynecologyAscension St. JohnAscension St. John MacombNoninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman’s results are nonreportable. Reasons include low fetal fraction, insufficient DNA, vanishing twin, twin pregnancy, clonal mosaicism, and maternal neoplasia. Here, we describe a 25-year-old G2P1 pregnant woman who had two nonreportable NIPT results and subsequently was diagnosed with lymphoma. We discuss the importance of clinical exam in correlation with the results to offer comprehensive evaluation of the patient with a nonreportable finding, given malignancy occurs in 1/1000 pregnant women. This report overviews proposed management guidelines for pregnant women with a nonreportable result and helps to address discomfort the treating physician may feel in discussing this result with their patient.http://dx.doi.org/10.1155/2022/2496057
spellingShingle Allison M. Jay
Brian Mason
Daniel Lebovic
Paul Chuba
More than an Incidentaloma: The Nonreportable NIPT
Case Reports in Obstetrics and Gynecology
title More than an Incidentaloma: The Nonreportable NIPT
title_full More than an Incidentaloma: The Nonreportable NIPT
title_fullStr More than an Incidentaloma: The Nonreportable NIPT
title_full_unstemmed More than an Incidentaloma: The Nonreportable NIPT
title_short More than an Incidentaloma: The Nonreportable NIPT
title_sort more than an incidentaloma the nonreportable nipt
url http://dx.doi.org/10.1155/2022/2496057
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