Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies

What's already known about this topic? Published studies have shown a 6.8 to 11.4% incremental yield of chromosomal abnormalities over karyotyping in SGA cases combined with structural anomalies or nonstructural anomalies. What does this study add? Our study showed that chromosomal and subchrom...

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Veröffentlicht in:Prenatal diagnosis 2017-12, Vol.37 (12), p.1219-1224
Hauptverfasser: Peng, Ruan, Zhou, Yi, Xie, Hong‐Ning, Lin, Mei‐Fang, Zheng, Ju
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container_issue 12
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container_title Prenatal diagnosis
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creator Peng, Ruan
Zhou, Yi
Xie, Hong‐Ning
Lin, Mei‐Fang
Zheng, Ju
description What's already known about this topic? Published studies have shown a 6.8 to 11.4% incremental yield of chromosomal abnormalities over karyotyping in SGA cases combined with structural anomalies or nonstructural anomalies. What does this study add? Our study showed that chromosomal and subchromosomal anomalies occurred in 7.8% (10/128) SGA fetuses with no additional structural anomalies, among which 9 cases could be identified with CMA. Chromosomal and subchromosomal anomalies occurred significantly higher in cases with oligohydraminos and in early onset cases. Objectives: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. Methods: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no), and umbilical artery Doppler flow (normal or abnormal). Results: Chromosomal anomalies were identified in 6 (4.7%) SGA fetuses and pathogenic subchromosomal anomalies in 4 (3.1%) by microarray analysis. Chromosomal and subchromosomal anomalies were more frequently observed in cases with oligohydraminos (P = .017) and with early‐onset SGA (P = .042). No differences were observed in relation to the existence of maternal risk factors and abnormal umbilical artery Doppler flow. Overall survival rate was 75.0% with different rates in the early and the late onset group (P 
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Published studies have shown a 6.8 to 11.4% incremental yield of chromosomal abnormalities over karyotyping in SGA cases combined with structural anomalies or nonstructural anomalies. What does this study add? Our study showed that chromosomal and subchromosomal anomalies occurred in 7.8% (10/128) SGA fetuses with no additional structural anomalies, among which 9 cases could be identified with CMA. Chromosomal and subchromosomal anomalies occurred significantly higher in cases with oligohydraminos and in early onset cases. Objectives: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. Methods: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no), and umbilical artery Doppler flow (normal or abnormal). Results: Chromosomal anomalies were identified in 6 (4.7%) SGA fetuses and pathogenic subchromosomal anomalies in 4 (3.1%) by microarray analysis. Chromosomal and subchromosomal anomalies were more frequently observed in cases with oligohydraminos (P = .017) and with early‐onset SGA (P = .042). No differences were observed in relation to the existence of maternal risk factors and abnormal umbilical artery Doppler flow. Overall survival rate was 75.0% with different rates in the early and the late onset group (P &lt; .001). Conclusions: There is a 3.3% incremental yield of subchromosomal anomalies in CMA above karyotyping in SGA fetuses. Chromosomal microarray analysis is recommended in SGA fetuses with no additional structural anomalies, especially coexisting with oligohydraminos and being early onset.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.5169</identifier><identifier>PMID: 29025195</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Abnormalities ; Age ; Anomalies ; Fetuses ; Genetic screening ; Gestational age ; Health risk assessment ; Reviews ; Risk analysis ; Risk factors ; Small-for-gestational age</subject><ispartof>Prenatal diagnosis, 2017-12, Vol.37 (12), p.1219-1224</ispartof><rights>2017 John Wiley &amp; Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3459-f41275fc1c92ce8b54ae701dfa4d57bf9ebb8949cd8be8bdaf85ff4290fc69fe3</citedby><cites>FETCH-LOGICAL-c3459-f41275fc1c92ce8b54ae701dfa4d57bf9ebb8949cd8be8bdaf85ff4290fc69fe3</cites><orcidid>0000-0002-2856-8891 ; 0000-0002-1599-3354 ; 0000-0002-8548-9663</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.5169$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.5169$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,778,782,1414,27907,27908,45557,45558</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29025195$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Peng, Ruan</creatorcontrib><creatorcontrib>Zhou, Yi</creatorcontrib><creatorcontrib>Xie, Hong‐Ning</creatorcontrib><creatorcontrib>Lin, Mei‐Fang</creatorcontrib><creatorcontrib>Zheng, Ju</creatorcontrib><title>Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>What's already known about this topic? Published studies have shown a 6.8 to 11.4% incremental yield of chromosomal abnormalities over karyotyping in SGA cases combined with structural anomalies or nonstructural anomalies. What does this study add? Our study showed that chromosomal and subchromosomal anomalies occurred in 7.8% (10/128) SGA fetuses with no additional structural anomalies, among which 9 cases could be identified with CMA. Chromosomal and subchromosomal anomalies occurred significantly higher in cases with oligohydraminos and in early onset cases. Objectives: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. Methods: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no), and umbilical artery Doppler flow (normal or abnormal). Results: Chromosomal anomalies were identified in 6 (4.7%) SGA fetuses and pathogenic subchromosomal anomalies in 4 (3.1%) by microarray analysis. Chromosomal and subchromosomal anomalies were more frequently observed in cases with oligohydraminos (P = .017) and with early‐onset SGA (P = .042). No differences were observed in relation to the existence of maternal risk factors and abnormal umbilical artery Doppler flow. Overall survival rate was 75.0% with different rates in the early and the late onset group (P &lt; .001). Conclusions: There is a 3.3% incremental yield of subchromosomal anomalies in CMA above karyotyping in SGA fetuses. Chromosomal microarray analysis is recommended in SGA fetuses with no additional structural anomalies, especially coexisting with oligohydraminos and being early onset.</description><subject>Abnormalities</subject><subject>Age</subject><subject>Anomalies</subject><subject>Fetuses</subject><subject>Genetic screening</subject><subject>Gestational age</subject><subject>Health risk assessment</subject><subject>Reviews</subject><subject>Risk analysis</subject><subject>Risk factors</subject><subject>Small-for-gestational age</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp10V1LwzAUBuAgiptT_AcS8EJBOpO0aZtLmZ8g6IVelzQfW0fb1CRl7M6fbuqmqOBVwjkPLzk5ABxjNMUIkctOTilO2Q4YY8SyCBES74IxwuEe5xSPwIFzywBzwrJ9MCIMEYoZHYP32cKaxjjT8BryVkLXl-JXaTgq5SB3zoiKeyWhN9CFag21sXCunOe-Mu2g5wpq5XsX_KryC9gayKWstm3nbS98b3_mHoI9zWunjrbnBLze3rzM7qPHp7uH2dVjJOKEskgnmGRUCywYESovacJVhrDUPJE0KzVTZZmzhAmZl6Etuc6p1kkYVIuUaRVPwPkmt7PmrQ9vLprKCVXXvFWmd0X4qhiROE2yQE__0KXpbRhgUDnKUJpiFNTZRglrnLNKF52tGm7XBUbFsJSik8WwlCBPtnl92Sj57b62EMDFBqyqWq3_yymerz_jPgDlu5hH</recordid><startdate>201712</startdate><enddate>201712</enddate><creator>Peng, Ruan</creator><creator>Zhou, Yi</creator><creator>Xie, Hong‐Ning</creator><creator>Lin, Mei‐Fang</creator><creator>Zheng, Ju</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-2856-8891</orcidid><orcidid>https://orcid.org/0000-0002-1599-3354</orcidid><orcidid>https://orcid.org/0000-0002-8548-9663</orcidid></search><sort><creationdate>201712</creationdate><title>Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies</title><author>Peng, Ruan ; Zhou, Yi ; Xie, Hong‐Ning ; Lin, Mei‐Fang ; Zheng, Ju</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3459-f41275fc1c92ce8b54ae701dfa4d57bf9ebb8949cd8be8bdaf85ff4290fc69fe3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Abnormalities</topic><topic>Age</topic><topic>Anomalies</topic><topic>Fetuses</topic><topic>Genetic screening</topic><topic>Gestational age</topic><topic>Health risk assessment</topic><topic>Reviews</topic><topic>Risk analysis</topic><topic>Risk factors</topic><topic>Small-for-gestational age</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Peng, Ruan</creatorcontrib><creatorcontrib>Zhou, Yi</creatorcontrib><creatorcontrib>Xie, Hong‐Ning</creatorcontrib><creatorcontrib>Lin, Mei‐Fang</creatorcontrib><creatorcontrib>Zheng, Ju</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium &amp; Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Peng, Ruan</au><au>Zhou, Yi</au><au>Xie, Hong‐Ning</au><au>Lin, Mei‐Fang</au><au>Zheng, Ju</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2017-12</date><risdate>2017</risdate><volume>37</volume><issue>12</issue><spage>1219</spage><epage>1224</epage><pages>1219-1224</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>What's already known about this topic? Published studies have shown a 6.8 to 11.4% incremental yield of chromosomal abnormalities over karyotyping in SGA cases combined with structural anomalies or nonstructural anomalies. What does this study add? Our study showed that chromosomal and subchromosomal anomalies occurred in 7.8% (10/128) SGA fetuses with no additional structural anomalies, among which 9 cases could be identified with CMA. Chromosomal and subchromosomal anomalies occurred significantly higher in cases with oligohydraminos and in early onset cases. Objectives: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. Methods: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no), and umbilical artery Doppler flow (normal or abnormal). Results: Chromosomal anomalies were identified in 6 (4.7%) SGA fetuses and pathogenic subchromosomal anomalies in 4 (3.1%) by microarray analysis. Chromosomal and subchromosomal anomalies were more frequently observed in cases with oligohydraminos (P = .017) and with early‐onset SGA (P = .042). No differences were observed in relation to the existence of maternal risk factors and abnormal umbilical artery Doppler flow. Overall survival rate was 75.0% with different rates in the early and the late onset group (P &lt; .001). Conclusions: There is a 3.3% incremental yield of subchromosomal anomalies in CMA above karyotyping in SGA fetuses. Chromosomal microarray analysis is recommended in SGA fetuses with no additional structural anomalies, especially coexisting with oligohydraminos and being early onset.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>29025195</pmid><doi>10.1002/pd.5169</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-2856-8891</orcidid><orcidid>https://orcid.org/0000-0002-1599-3354</orcidid><orcidid>https://orcid.org/0000-0002-8548-9663</orcidid></addata></record>
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source Wiley Online Library Journals Frontfile Complete
subjects Abnormalities
Age
Anomalies
Fetuses
Genetic screening
Gestational age
Health risk assessment
Reviews
Risk analysis
Risk factors
Small-for-gestational age
title Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies
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