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Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports

We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy 21 [fetal fraction (FF) = 6.98%, 21 chromosom...

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Autores principales: Kang, Kyung Min, Kim, Soo Hyun, Park, Ji Eun, Kim, Hyunjin, Jang, Hee Yeon, Go, Minyeon, Yang, So Hyun, Ryu, Sang Woo, Bae, Sung Mi, Cha, Dong Hyun, Shim, Sung Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9797983/
https://www.ncbi.nlm.nih.gov/pubmed/36590946
http://dx.doi.org/10.3389/fmed.2022.1063480
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author Kang, Kyung Min
Kim, Soo Hyun
Park, Ji Eun
Kim, Hyunjin
Jang, Hee Yeon
Go, Minyeon
Yang, So Hyun
Ryu, Sang Woo
Bae, Sung Mi
Cha, Dong Hyun
Shim, Sung Han
author_facet Kang, Kyung Min
Kim, Soo Hyun
Park, Ji Eun
Kim, Hyunjin
Jang, Hee Yeon
Go, Minyeon
Yang, So Hyun
Ryu, Sang Woo
Bae, Sung Mi
Cha, Dong Hyun
Shim, Sung Han
author_sort Kang, Kyung Min
collection PubMed
description We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy 21 [fetal fraction (FF) = 6.98%, 21 chromosome Z-score = 3.6]. The patient underwent quantitative fluorescent (QF)-PCR and karyotyping at 14 + 0 weeks of pregnancy through CVS showing mosaicism of 47, XX, + 21[11] and 46, XX [39] in karyotyping. The patient underwent amniocentesis at 15 + 6 weeks, showing a normal pattern in QF-PCR and 46, XX karyotyping in long term culture. The second case underwent NIPT at 16 + 5 weeks of pregnancy (FF = 7.52%, 21 chromosome Z-score = 2.503). She underwent an invasive test at 19 weeks through amniotic fluid sampling. As a result, trisomy 21 was detected by QF-PCR, and mosaicism of XX, +21[22]/46, XX [4] was identified by karyotyping. Despite significant advances in fetal chromosome analysis using NIPT, invasive testing is still needed as placenta-derived DNA does not reflect 100% fetal genetic information. Placental mosaicism can be detected by NIPT, but more research is needed to increase its sensitivity. Therefore, if the NIPT result is positive, an invasive test can confirm the result, and continuous monitoring is required even if the NIPT result is negative.
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spelling pubmed-97979832022-12-30 Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports Kang, Kyung Min Kim, Soo Hyun Park, Ji Eun Kim, Hyunjin Jang, Hee Yeon Go, Minyeon Yang, So Hyun Ryu, Sang Woo Bae, Sung Mi Cha, Dong Hyun Shim, Sung Han Front Med (Lausanne) Medicine We aimed to identify the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods for trisomy 21. In the first case, NIPT was performed at 11 weeks of pregnancy, and the result showed a high risk of trisomy 21 [fetal fraction (FF) = 6.98%, 21 chromosome Z-score = 3.6]. The patient underwent quantitative fluorescent (QF)-PCR and karyotyping at 14 + 0 weeks of pregnancy through CVS showing mosaicism of 47, XX, + 21[11] and 46, XX [39] in karyotyping. The patient underwent amniocentesis at 15 + 6 weeks, showing a normal pattern in QF-PCR and 46, XX karyotyping in long term culture. The second case underwent NIPT at 16 + 5 weeks of pregnancy (FF = 7.52%, 21 chromosome Z-score = 2.503). She underwent an invasive test at 19 weeks through amniotic fluid sampling. As a result, trisomy 21 was detected by QF-PCR, and mosaicism of XX, +21[22]/46, XX [4] was identified by karyotyping. Despite significant advances in fetal chromosome analysis using NIPT, invasive testing is still needed as placenta-derived DNA does not reflect 100% fetal genetic information. Placental mosaicism can be detected by NIPT, but more research is needed to increase its sensitivity. Therefore, if the NIPT result is positive, an invasive test can confirm the result, and continuous monitoring is required even if the NIPT result is negative. Frontiers Media S.A. 2022-12-15 /pmc/articles/PMC9797983/ /pubmed/36590946 http://dx.doi.org/10.3389/fmed.2022.1063480 Text en Copyright © 2022 Kang, Kim, Park, Kim, Jang, Go, Yang, Ryu, Bae, Cha and Shim. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Kang, Kyung Min
Kim, Soo Hyun
Park, Ji Eun
Kim, Hyunjin
Jang, Hee Yeon
Go, Minyeon
Yang, So Hyun
Ryu, Sang Woo
Bae, Sung Mi
Cha, Dong Hyun
Shim, Sung Han
Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
title Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
title_full Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
title_fullStr Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
title_full_unstemmed Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
title_short Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
title_sort inconsistency between non-invasive prenatal testing (nipt) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: two case reports
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9797983/
https://www.ncbi.nlm.nih.gov/pubmed/36590946
http://dx.doi.org/10.3389/fmed.2022.1063480
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