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Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
OBJECTIVE: This study aimed to explore the correlation between the ultrasound phenotype and copy number variation (CNV) of abnormal embryos in spontaneous abortion by investigating the abnormal chromosome copy number of embryos at different developmental stages in early spontaneous abortion. METHODS...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons Australia, Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293302/ https://www.ncbi.nlm.nih.gov/pubmed/34571575 http://dx.doi.org/10.1111/jog.14987 |
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author | Tan, Shuyin Pan, Pingshan Yang, Zuojian Su, Jiasun Wei, Hongwei |
author_facet | Tan, Shuyin Pan, Pingshan Yang, Zuojian Su, Jiasun Wei, Hongwei |
author_sort | Tan, Shuyin |
collection | PubMed |
description | OBJECTIVE: This study aimed to explore the correlation between the ultrasound phenotype and copy number variation (CNV) of abnormal embryos in spontaneous abortion by investigating the abnormal chromosome copy number of embryos at different developmental stages in early spontaneous abortion. METHODS: A total of 539 patients who had early spontaneous abortion in our hospital between 2015 and 2019 were divided into seven groups according to the phenotype of abnormal embryonic development during pregnancy, and the embryonic tissues of the patients were subjected by single nucleotide polymorphism (SNP) microarray. RESULTS: Among 377 cases with abnormal CNV, 295 (78.25%) cases had chromosome trisomy, and 28 (7.43%) cases had a combination of more than two chromosomes. Triploidy, tetraploidy, chromosome microdeletion/duplication, uniparental disomy, and monosomy 45,X were found in 32 (8.48%), five (1.32%), 31 (8.22%), four (1.02%), and eight (2.12%) cases, respectively. Two (0.53%) cases had autosomal chromosome 21 monosomy. Normal karyotype had the highest proportion in the empty sac group; trisomy 16 accounted for the bulk of chromosomes in the normal yolk sac group, complex triploidy occupied the most part in the abnormal yolk sac group, and no remarkable difference in chromosomal abnormality proportion was found between the normal and abnormal yolk sac groups; the most frequent chromosomal anomaly in a group of germ without cardiac activity and germ<5 mm was trisomy 16; triploidy was the most common in the group with 5 mm ≤ germ ≤ 15 mm, whereas the main distribution of chromosome karyotype was normal, followed by trisomy 13 in a group with germ>15 mm. CONCLUSION: Abnormal embryos with different ultrasound phenotypes in early spontaneous abortion have various CNV types and characteristic distribution. Thus, ultrasound combined with SNP array can provide a basis for the etiological analysis of embryos in spontaneous abortion. |
format | Online Article Text |
id | pubmed-9293302 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley & Sons Australia, Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-92933022022-07-20 Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion Tan, Shuyin Pan, Pingshan Yang, Zuojian Su, Jiasun Wei, Hongwei J Obstet Gynaecol Res Original Articles OBJECTIVE: This study aimed to explore the correlation between the ultrasound phenotype and copy number variation (CNV) of abnormal embryos in spontaneous abortion by investigating the abnormal chromosome copy number of embryos at different developmental stages in early spontaneous abortion. METHODS: A total of 539 patients who had early spontaneous abortion in our hospital between 2015 and 2019 were divided into seven groups according to the phenotype of abnormal embryonic development during pregnancy, and the embryonic tissues of the patients were subjected by single nucleotide polymorphism (SNP) microarray. RESULTS: Among 377 cases with abnormal CNV, 295 (78.25%) cases had chromosome trisomy, and 28 (7.43%) cases had a combination of more than two chromosomes. Triploidy, tetraploidy, chromosome microdeletion/duplication, uniparental disomy, and monosomy 45,X were found in 32 (8.48%), five (1.32%), 31 (8.22%), four (1.02%), and eight (2.12%) cases, respectively. Two (0.53%) cases had autosomal chromosome 21 monosomy. Normal karyotype had the highest proportion in the empty sac group; trisomy 16 accounted for the bulk of chromosomes in the normal yolk sac group, complex triploidy occupied the most part in the abnormal yolk sac group, and no remarkable difference in chromosomal abnormality proportion was found between the normal and abnormal yolk sac groups; the most frequent chromosomal anomaly in a group of germ without cardiac activity and germ<5 mm was trisomy 16; triploidy was the most common in the group with 5 mm ≤ germ ≤ 15 mm, whereas the main distribution of chromosome karyotype was normal, followed by trisomy 13 in a group with germ>15 mm. CONCLUSION: Abnormal embryos with different ultrasound phenotypes in early spontaneous abortion have various CNV types and characteristic distribution. Thus, ultrasound combined with SNP array can provide a basis for the etiological analysis of embryos in spontaneous abortion. John Wiley & Sons Australia, Ltd 2021-09-27 2021-11 /pmc/articles/PMC9293302/ /pubmed/34571575 http://dx.doi.org/10.1111/jog.14987 Text en © 2021 The Authors. Journal of Obstetrics and Gynaecology Research published by John Wiley & Sons Australia, Ltd on behalf of Japan Society of Obstetrics and Gynecology. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Tan, Shuyin Pan, Pingshan Yang, Zuojian Su, Jiasun Wei, Hongwei Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
title | Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
title_full | Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
title_fullStr | Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
title_full_unstemmed | Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
title_short | Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
title_sort | study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293302/ https://www.ncbi.nlm.nih.gov/pubmed/34571575 http://dx.doi.org/10.1111/jog.14987 |
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