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...
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| Veröffentlicht in: | The journal of obstetrics and gynaecology research 2021-11, Vol.47 (11), p.3779-3788 |
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| container_title | The journal of obstetrics and gynaecology research |
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| creator | Tan, Shuyin Pan, Pingshan Yang, Zuojian Su, Jiasun Wei, Hongwei |
| 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 germ15 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. |
| doi_str_mv | 10.1111/jog.14987 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9293302</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2590675143</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4447-f101276768901572990067ae16ce52249d2e240e4cc0321093d5b43bde892a003</originalsourceid><addsrcrecordid>eNp1kU9v1DAQxS0EoqVw4BtY4gKHbf03ji9IqCotqFIPwNlynNndrBJPsJNWufDZ8ZKqEkj4Yo_n957maQh5y9k5L-figLtzrmxtnpFTrpTZMKOr5-UtFd_UzFQn5FXOB8a4sbx-SU6k0oZro0_Jr2_T3C4UI532QAOmBL2fulI3MD0ArP9zPyWfcY4tHfcQcVpGoL5UAceFxnloINF7n7pVilvqm4hp8D2FoUkL0i7SPGKcfAScc2ljOqKvyYut7zO8ebzPyI_PV98vbza3d9dfLj_dboI65tlyxoWpTFVbVuYW1jJWGQ-8CqCFULYVIBQDFQKTgjMrW90o2bRQW-EZk2fk4-o7zs0AbYBYAvVuTN3g0-LQd-7vTuz2bof3zgorJRPF4P2jQcKfM-TJDV0O0PdrICe0MUpzoVRB3_2DHnBOscQrlC1za65koT6sVEiYc4Lt0zCcueNWi2rn_my1sBcr-9D1sPwfdF_vrlfFbzp2pBk</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2590675143</pqid></control><display><type>article</type><title>Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion</title><source>Wiley Online Library Journals Frontfile Complete</source><creator>Tan, Shuyin ; Pan, Pingshan ; Yang, Zuojian ; Su, Jiasun ; Wei, Hongwei</creator><creatorcontrib>Tan, Shuyin ; Pan, Pingshan ; Yang, Zuojian ; Su, Jiasun ; Wei, Hongwei</creatorcontrib><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.</description><identifier>ISSN: 1341-8076</identifier><identifier>EISSN: 1447-0756</identifier><identifier>DOI: 10.1111/jog.14987</identifier><identifier>PMID: 34571575</identifier><language>eng</language><publisher>Kyoto, Japan: John Wiley & Sons Australia, Ltd</publisher><subject>abnormal embryo ; Chromosome 21 ; Chromosome aberrations ; Chromosomes ; Copy number ; copy number variation ; Developmental stages ; Embryogenesis ; Embryos ; Gene duplication ; Genotype & phenotype ; Karyotypes ; Miscarriage ; Monosomy ; Original ; Patau's syndrome ; Patients ; Phenotypes ; Single-nucleotide polymorphism ; spontaneous abortion ; Tetraploidy ; Triploidy ; Trisomy ; Ultrasonic imaging ; Ultrasound ; ultrasound phenotype ; Uniparental disomy ; Yolk ; Yolk sac</subject><ispartof>The journal of obstetrics and gynaecology research, 2021-11, Vol.47 (11), p.3779-3788</ispartof><rights>2021 The Authors. published by John Wiley & Sons Australia, Ltd on behalf of Japan Society of Obstetrics and Gynecology.</rights><rights>2021. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4447-f101276768901572990067ae16ce52249d2e240e4cc0321093d5b43bde892a003</citedby><cites>FETCH-LOGICAL-c4447-f101276768901572990067ae16ce52249d2e240e4cc0321093d5b43bde892a003</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fjog.14987$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fjog.14987$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,1411,27903,27904,45553,45554</link.rule.ids></links><search><creatorcontrib>Tan, Shuyin</creatorcontrib><creatorcontrib>Pan, Pingshan</creatorcontrib><creatorcontrib>Yang, Zuojian</creatorcontrib><creatorcontrib>Su, Jiasun</creatorcontrib><creatorcontrib>Wei, Hongwei</creatorcontrib><title>Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion</title><title>The journal of obstetrics and gynaecology research</title><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.</description><subject>abnormal embryo</subject><subject>Chromosome 21</subject><subject>Chromosome aberrations</subject><subject>Chromosomes</subject><subject>Copy number</subject><subject>copy number variation</subject><subject>Developmental stages</subject><subject>Embryogenesis</subject><subject>Embryos</subject><subject>Gene duplication</subject><subject>Genotype & phenotype</subject><subject>Karyotypes</subject><subject>Miscarriage</subject><subject>Monosomy</subject><subject>Original</subject><subject>Patau's syndrome</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Single-nucleotide polymorphism</subject><subject>spontaneous abortion</subject><subject>Tetraploidy</subject><subject>Triploidy</subject><subject>Trisomy</subject><subject>Ultrasonic imaging</subject><subject>Ultrasound</subject><subject>ultrasound phenotype</subject><subject>Uniparental disomy</subject><subject>Yolk</subject><subject>Yolk sac</subject><issn>1341-8076</issn><issn>1447-0756</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp1kU9v1DAQxS0EoqVw4BtY4gKHbf03ji9IqCotqFIPwNlynNndrBJPsJNWufDZ8ZKqEkj4Yo_n957maQh5y9k5L-figLtzrmxtnpFTrpTZMKOr5-UtFd_UzFQn5FXOB8a4sbx-SU6k0oZro0_Jr2_T3C4UI532QAOmBL2fulI3MD0ArP9zPyWfcY4tHfcQcVpGoL5UAceFxnloINF7n7pVilvqm4hp8D2FoUkL0i7SPGKcfAScc2ljOqKvyYut7zO8ebzPyI_PV98vbza3d9dfLj_dboI65tlyxoWpTFVbVuYW1jJWGQ-8CqCFULYVIBQDFQKTgjMrW90o2bRQW-EZk2fk4-o7zs0AbYBYAvVuTN3g0-LQd-7vTuz2bof3zgorJRPF4P2jQcKfM-TJDV0O0PdrICe0MUpzoVRB3_2DHnBOscQrlC1za65koT6sVEiYc4Lt0zCcueNWi2rn_my1sBcr-9D1sPwfdF_vrlfFbzp2pBk</recordid><startdate>202111</startdate><enddate>202111</enddate><creator>Tan, Shuyin</creator><creator>Pan, Pingshan</creator><creator>Yang, Zuojian</creator><creator>Su, Jiasun</creator><creator>Wei, Hongwei</creator><general>John Wiley & Sons Australia, Ltd</general><general>Wiley Subscription Services, Inc</general><scope>24P</scope><scope>WIN</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TO</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>202111</creationdate><title>Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion</title><author>Tan, Shuyin ; Pan, Pingshan ; Yang, Zuojian ; Su, Jiasun ; Wei, Hongwei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4447-f101276768901572990067ae16ce52249d2e240e4cc0321093d5b43bde892a003</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>abnormal embryo</topic><topic>Chromosome 21</topic><topic>Chromosome aberrations</topic><topic>Chromosomes</topic><topic>Copy number</topic><topic>copy number variation</topic><topic>Developmental stages</topic><topic>Embryogenesis</topic><topic>Embryos</topic><topic>Gene duplication</topic><topic>Genotype & phenotype</topic><topic>Karyotypes</topic><topic>Miscarriage</topic><topic>Monosomy</topic><topic>Original</topic><topic>Patau's syndrome</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>Single-nucleotide polymorphism</topic><topic>spontaneous abortion</topic><topic>Tetraploidy</topic><topic>Triploidy</topic><topic>Trisomy</topic><topic>Ultrasonic imaging</topic><topic>Ultrasound</topic><topic>ultrasound phenotype</topic><topic>Uniparental disomy</topic><topic>Yolk</topic><topic>Yolk sac</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tan, Shuyin</creatorcontrib><creatorcontrib>Pan, Pingshan</creatorcontrib><creatorcontrib>Yang, Zuojian</creatorcontrib><creatorcontrib>Su, Jiasun</creatorcontrib><creatorcontrib>Wei, Hongwei</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Free Content</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The journal of obstetrics and gynaecology research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tan, Shuyin</au><au>Pan, Pingshan</au><au>Yang, Zuojian</au><au>Su, Jiasun</au><au>Wei, Hongwei</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion</atitle><jtitle>The journal of obstetrics and gynaecology research</jtitle><date>2021-11</date><risdate>2021</risdate><volume>47</volume><issue>11</issue><spage>3779</spage><epage>3788</epage><pages>3779-3788</pages><issn>1341-8076</issn><eissn>1447-0756</eissn><abstract>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.</abstract><cop>Kyoto, Japan</cop><pub>John Wiley & Sons Australia, Ltd</pub><pmid>34571575</pmid><doi>10.1111/jog.14987</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | The journal of obstetrics and gynaecology research, 2021-11, Vol.47 (11), p.3779-3788 |
| issn | 1341-8076 1447-0756 |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | abnormal embryo Chromosome 21 Chromosome aberrations Chromosomes Copy number copy number variation Developmental stages Embryogenesis Embryos Gene duplication Genotype & phenotype Karyotypes Miscarriage Monosomy Original Patau's syndrome Patients Phenotypes Single-nucleotide polymorphism spontaneous abortion Tetraploidy Triploidy Trisomy Ultrasonic imaging Ultrasound ultrasound phenotype Uniparental disomy Yolk Yolk sac |
| title | Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion |
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