False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY

False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY

Introduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 336/7 weeks, secondary to sonographic fetal a...

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Main Authors: Manesha Putra, Melissa A. Hicks, Jacques S. Abramowicz
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2018-01-01
Series:American Journal of Perinatology Reports
Subjects:
sex chromosome aneuploidy
nipt
prenatal diagnosis
screening
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1621722
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spelling doaj-ed14ac2cba2c42a4aa0ee5bb4f855bab2020-11-25T02:31:41ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052018-01-010801e4e610.1055/s-0037-1621722False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXYManesha Putra0Melissa A. Hicks1Jacques S. Abramowicz2Department of Obstetrics and Gynecology, Detroit Medical Center, Wayne State University, Detroit, MichiganDetroit Medical Center University Laboratories, Detroit Medical Center, Detroit, MichiganDepartment of Obstetrics and Gynecology, University of Chicago, Chicago, IllinoisIntroduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 336/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 136/7 weeks. Anatomy survey showed bilateral clubfeet, clinodactyly of the left fifth digit, micropenis, and echogenic bowel. Cytogenetics analysis revealed pentasomy 49,XXXXY syndrome. We report third-trimester sonographic features of a fetus with pentasomy 49,XXXXY and the importance of thorough pre- and posttest counseling for NIPS.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1621722sex chromosome aneuploidyniptprenatal diagnosisscreening
collection DOAJ
language English
format Article
sources DOAJ
author Manesha Putra
Melissa A. Hicks
Jacques S. Abramowicz
spellingShingle Manesha Putra
Melissa A. Hicks
Jacques S. Abramowicz
False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
American Journal of Perinatology Reports
sex chromosome aneuploidy
nipt
prenatal diagnosis
screening
author_facet Manesha Putra
Melissa A. Hicks
Jacques S. Abramowicz
author_sort Manesha Putra
title False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
title_short False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
title_full False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
title_fullStr False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
title_full_unstemmed False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
title_sort false low-risk single nucleotide polymorphism–based noninvasive prenatal screening in pentasomy 49,xxxxy
publisher Thieme Medical Publishers, Inc.
series American Journal of Perinatology Reports
issn 2157-6998
2157-7005
publishDate 2018-01-01
description Introduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 336/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 136/7 weeks. Anatomy survey showed bilateral clubfeet, clinodactyly of the left fifth digit, micropenis, and echogenic bowel. Cytogenetics analysis revealed pentasomy 49,XXXXY syndrome. We report third-trimester sonographic features of a fetus with pentasomy 49,XXXXY and the importance of thorough pre- and posttest counseling for NIPS.
topic sex chromosome aneuploidy
nipt
prenatal diagnosis
screening
url http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1621722
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AT melissaahicks falselowrisksinglenucleotidepolymorphismbasednoninvasiveprenatalscreeninginpentasomy49xxxxy
AT jacquessabramowicz falselowrisksinglenucleotidepolymorphismbasednoninvasiveprenatalscreeninginpentasomy49xxxxy
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