Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities
BACKGROUND: Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies at high risk for chromosomal abnormalities. In this study, we investigated 3387...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6979326/ https://www.ncbi.nlm.nih.gov/pubmed/31998409 http://dx.doi.org/10.1186/s13039-020-0469-6 |
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author | Sun, Yanmei Zhang, Pingping Zhang, Ning Rong, Limin Yu, Xiaoping Huang, Xianghua Li, Yali |
author_facet | Sun, Yanmei Zhang, Pingping Zhang, Ning Rong, Limin Yu, Xiaoping Huang, Xianghua Li, Yali |
author_sort | Sun, Yanmei |
collection | PubMed |
description | BACKGROUND: Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies at high risk for chromosomal abnormalities. In this study, we investigated 3387 umbilical cord blood samples for karyotyping from pregnant women who underwent cordocentesis and explored the pregnancy outcomes of foetal sex chromosome mosaicism and chromosomal polymorphism. RESULTS: Out of the 3387 samples, 182 abnormal karyotypes were detected. Ultrasound soft markers were the most common prenatal diagnostic indication, but the detection rate of abnormal karyotypes was 2.02%, while it was 46.97% in the genome-wide NIPT-positive group. The rate of aneuploidy was lower in the soft marker group than in the other groups. Out of 16 cases with sex chromosome mosaicism, three pregnant women with foetuses with a lower proportion of sex chromosome mosaicism delivered healthy foetuses; the foetus with karyotype 46,X,i(Y)(q10)[20]/45,X[6] showed unclear genitals. Three foetuses with chromosomal polymorphisms had postnatal disorders. CONCLUSIONS: NIPT should not be recommended as the first-tier screening for chromosomal aberration for pregnancies with ultrasound soft markers or pathological ultrasound findings, but NIPT can be considered an acceptable alternative for pregnancies with contraindications to cordocentesis or the fear of procedure-related foetal loss. Mosaicism found in amniotic fluid cell culture requires further cordocentesis for karyotype confirmation, and the continuation of pregnancy is safe when a normal karyotype is identified in foetal blood culture. Further genetic testing and parental karyotype analysis are needed for foetal chromosomal polymorphisms. |
format | Online Article Text |
id | pubmed-6979326 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-69793262020-01-29 Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities Sun, Yanmei Zhang, Pingping Zhang, Ning Rong, Limin Yu, Xiaoping Huang, Xianghua Li, Yali Mol Cytogenet Research BACKGROUND: Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies at high risk for chromosomal abnormalities. In this study, we investigated 3387 umbilical cord blood samples for karyotyping from pregnant women who underwent cordocentesis and explored the pregnancy outcomes of foetal sex chromosome mosaicism and chromosomal polymorphism. RESULTS: Out of the 3387 samples, 182 abnormal karyotypes were detected. Ultrasound soft markers were the most common prenatal diagnostic indication, but the detection rate of abnormal karyotypes was 2.02%, while it was 46.97% in the genome-wide NIPT-positive group. The rate of aneuploidy was lower in the soft marker group than in the other groups. Out of 16 cases with sex chromosome mosaicism, three pregnant women with foetuses with a lower proportion of sex chromosome mosaicism delivered healthy foetuses; the foetus with karyotype 46,X,i(Y)(q10)[20]/45,X[6] showed unclear genitals. Three foetuses with chromosomal polymorphisms had postnatal disorders. CONCLUSIONS: NIPT should not be recommended as the first-tier screening for chromosomal aberration for pregnancies with ultrasound soft markers or pathological ultrasound findings, but NIPT can be considered an acceptable alternative for pregnancies with contraindications to cordocentesis or the fear of procedure-related foetal loss. Mosaicism found in amniotic fluid cell culture requires further cordocentesis for karyotype confirmation, and the continuation of pregnancy is safe when a normal karyotype is identified in foetal blood culture. Further genetic testing and parental karyotype analysis are needed for foetal chromosomal polymorphisms. BioMed Central 2020-01-23 /pmc/articles/PMC6979326/ /pubmed/31998409 http://dx.doi.org/10.1186/s13039-020-0469-6 Text en © The Author(s). 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Sun, Yanmei Zhang, Pingping Zhang, Ning Rong, Limin Yu, Xiaoping Huang, Xianghua Li, Yali Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
title | Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
title_full | Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
title_fullStr | Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
title_full_unstemmed | Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
title_short | Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
title_sort | cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6979326/ https://www.ncbi.nlm.nih.gov/pubmed/31998409 http://dx.doi.org/10.1186/s13039-020-0469-6 |
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