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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

BACKGROUND: Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false‐positive and false‐negative results in noninvasive prenatal testing. METHODS: Next‐generation seque...

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Autores principales: Li, Jin, Xie, Mingshui, Wang, Fang, Ma, Jianhong, Li, Jiafu, Chen, Chen, Li, Zhimin, Wang, Juan, Zhang, Yuanzhen, Li, Yirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434741/
https://www.ncbi.nlm.nih.gov/pubmed/32463164
http://dx.doi.org/10.1002/mgg3.1279
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author Li, Jin
Xie, Mingshui
Wang, Fang
Ma, Jianhong
Li, Jiafu
Chen, Chen
Li, Zhimin
Wang, Juan
Zhang, Yuanzhen
Li, Yirong
author_facet Li, Jin
Xie, Mingshui
Wang, Fang
Ma, Jianhong
Li, Jiafu
Chen, Chen
Li, Zhimin
Wang, Juan
Zhang, Yuanzhen
Li, Yirong
author_sort Li, Jin
collection PubMed
description BACKGROUND: Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false‐positive and false‐negative results in noninvasive prenatal testing. METHODS: Next‐generation sequencing (NGS) and Quantitative fluorescent polymerase chain reaction (QF‐PCR) were performed on the cord blood sample, fetal tissues, and eight placental biopsies. Fluorescent In Situ Hybridization (FISH) and karyotyping were also carried to confirm the fetal genome status. RESULTS: The results suggested that the fetal chromosome was 47,XXX and the placenta had three karyotypes of 48,XXX,+21, 47,XX,+21, and 47,XXX. QF‐PCR indicated that the extra chromosome 21 and chromosome X were all from the father. It is speculated that the zygote may have 48,XXX,+21 karyotype and trisomy rescue could be the main mechanism for the development of the homogeneous fetus and complex mosaic placenta. CONCLUSION: Overall, the complicated nature of our case underlines the importance of discussing with parents the possibility of both atypical and discordant results during preconfirmatory amniocentesis counseling and consent.
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spelling pubmed-74347412020-08-20 A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21 Li, Jin Xie, Mingshui Wang, Fang Ma, Jianhong Li, Jiafu Chen, Chen Li, Zhimin Wang, Juan Zhang, Yuanzhen Li, Yirong Mol Genet Genomic Med Clinical Reports BACKGROUND: Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false‐positive and false‐negative results in noninvasive prenatal testing. METHODS: Next‐generation sequencing (NGS) and Quantitative fluorescent polymerase chain reaction (QF‐PCR) were performed on the cord blood sample, fetal tissues, and eight placental biopsies. Fluorescent In Situ Hybridization (FISH) and karyotyping were also carried to confirm the fetal genome status. RESULTS: The results suggested that the fetal chromosome was 47,XXX and the placenta had three karyotypes of 48,XXX,+21, 47,XX,+21, and 47,XXX. QF‐PCR indicated that the extra chromosome 21 and chromosome X were all from the father. It is speculated that the zygote may have 48,XXX,+21 karyotype and trisomy rescue could be the main mechanism for the development of the homogeneous fetus and complex mosaic placenta. CONCLUSION: Overall, the complicated nature of our case underlines the importance of discussing with parents the possibility of both atypical and discordant results during preconfirmatory amniocentesis counseling and consent. John Wiley and Sons Inc. 2020-05-28 /pmc/articles/PMC7434741/ /pubmed/32463164 http://dx.doi.org/10.1002/mgg3.1279 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Clinical Reports
Li, Jin
Xie, Mingshui
Wang, Fang
Ma, Jianhong
Li, Jiafu
Chen, Chen
Li, Zhimin
Wang, Juan
Zhang, Yuanzhen
Li, Yirong
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
title A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
title_full A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
title_fullStr A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
title_full_unstemmed A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
title_short A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
title_sort rare case of nipt discrepancy caused by the placental mosaicism of three different karyotypes, 47,xxx, 47,xx,+21, and 48,xxx,+21
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434741/
https://www.ncbi.nlm.nih.gov/pubmed/32463164
http://dx.doi.org/10.1002/mgg3.1279
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