The outcome of prenatal identification of sex chromosome abnormalities
ObjectiveThe outcome of a pregnancy following identification of a sex chromosome abnormality (SCA) is unclear. The aims of this study were to ascertain the prevalence of SCA detected prenatally in Scotland and to determine the outcomes for these cases.DesignFollowing retrospective identification of...
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| Veröffentlicht in: | Archives of disease in childhood. Fetal and neonatal edition 2016-09, Vol.101 (5), p.F423-F427 |
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| creator | Lucas-Herald, Angela K Cann, Fiona Crawford, Lorna Morrison, Holly Boroujerdi, Massoud Nelson, Scott M Ahmed, S Faisal McGowan, Ruth |
| description | ObjectiveThe outcome of a pregnancy following identification of a sex chromosome abnormality (SCA) is unclear. The aims of this study were to ascertain the prevalence of SCA detected prenatally in Scotland and to determine the outcomes for these cases.DesignFollowing retrospective identification of all prenatal karyotypes performed in Scotland between 2000 and 2012, data linkage was performed to obtain information regarding maternal characteristics and pregnancy outcomes. Detailed outcome data were also collected for all affected offspring in the West of Scotland and Grampian regions within Scotland.ResultsOf the 28 145 pregnancies that had a karyotype over the study period, records were available for 27 152 (96%). Karyotype abnormalities were identified in 2139 (8%), with SCA being identified in 321(1%) tests. 45,X was identified as the commonest SCA in 135 pregnancies. Of 121 pregnancies with SCA in the West of Scotland and Grampian, 64 (53%), 52 (43%) and 5 (4%) led to a live birth, termination and intrauterine death, respectively. Of the 64 live births, 21 (33%) had a postnatal karyotype and 35 (54%) received specialist follow-up for the SCA that was identified prenatally.ConclusionsAbnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo a prenatal karyotype. There is a need to review the prenatal as well as postnatal care of the affected mother and offspring. |
| doi_str_mv | 10.1136/archdischild-2015-309681 |
| format | Article |
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The aims of this study were to ascertain the prevalence of SCA detected prenatally in Scotland and to determine the outcomes for these cases.DesignFollowing retrospective identification of all prenatal karyotypes performed in Scotland between 2000 and 2012, data linkage was performed to obtain information regarding maternal characteristics and pregnancy outcomes. Detailed outcome data were also collected for all affected offspring in the West of Scotland and Grampian regions within Scotland.ResultsOf the 28 145 pregnancies that had a karyotype over the study period, records were available for 27 152 (96%). Karyotype abnormalities were identified in 2139 (8%), with SCA being identified in 321(1%) tests. 45,X was identified as the commonest SCA in 135 pregnancies. Of 121 pregnancies with SCA in the West of Scotland and Grampian, 64 (53%), 52 (43%) and 5 (4%) led to a live birth, termination and intrauterine death, respectively. Of the 64 live births, 21 (33%) had a postnatal karyotype and 35 (54%) received specialist follow-up for the SCA that was identified prenatally.ConclusionsAbnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo a prenatal karyotype. There is a need to review the prenatal as well as postnatal care of the affected mother and offspring.</description><identifier>ISSN: 1359-2998</identifier><identifier>EISSN: 1468-2052</identifier><identifier>DOI: 10.1136/archdischild-2015-309681</identifier><identifier>PMID: 26764426</identifier><language>eng</language><publisher>England: BMJ Publishing Group LTD</publisher><subject>Amniocentesis ; Babies ; Chromosomes ; Counseling ; Female ; Health risk assessment ; Humans ; Karyotypes ; Karyotyping ; Laboratories ; Offspring ; Perinatal Care ; Postpartum period ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Retrospective Studies ; Scotland - epidemiology ; Sex Chromosome Aberrations - statistics & numerical data ; Stillbirth</subject><ispartof>Archives of disease in childhood. Fetal and neonatal edition, 2016-09, Vol.101 (5), p.F423-F427</ispartof><rights>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing</rights><rights>Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b490t-e0b0f99bf3675e70be562d1fcfca5258f7d77fd7975e2fb73e1f4569a48629c93</citedby><cites>FETCH-LOGICAL-b490t-e0b0f99bf3675e70be562d1fcfca5258f7d77fd7975e2fb73e1f4569a48629c93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttp://fn.bmj.com/content/101/5/F423.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttp://fn.bmj.com/content/101/5/F423.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,314,780,784,3196,23571,27924,27925,77600,77631</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26764426$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lucas-Herald, Angela K</creatorcontrib><creatorcontrib>Cann, Fiona</creatorcontrib><creatorcontrib>Crawford, Lorna</creatorcontrib><creatorcontrib>Morrison, Holly</creatorcontrib><creatorcontrib>Boroujerdi, Massoud</creatorcontrib><creatorcontrib>Nelson, Scott M</creatorcontrib><creatorcontrib>Ahmed, S Faisal</creatorcontrib><creatorcontrib>McGowan, Ruth</creatorcontrib><title>The outcome of prenatal identification of sex chromosome abnormalities</title><title>Archives of disease in childhood. Fetal and neonatal edition</title><addtitle>Arch Dis Child Fetal Neonatal Ed</addtitle><description>ObjectiveThe outcome of a pregnancy following identification of a sex chromosome abnormality (SCA) is unclear. The aims of this study were to ascertain the prevalence of SCA detected prenatally in Scotland and to determine the outcomes for these cases.DesignFollowing retrospective identification of all prenatal karyotypes performed in Scotland between 2000 and 2012, data linkage was performed to obtain information regarding maternal characteristics and pregnancy outcomes. Detailed outcome data were also collected for all affected offspring in the West of Scotland and Grampian regions within Scotland.ResultsOf the 28 145 pregnancies that had a karyotype over the study period, records were available for 27 152 (96%). Karyotype abnormalities were identified in 2139 (8%), with SCA being identified in 321(1%) tests. 45,X was identified as the commonest SCA in 135 pregnancies. Of 121 pregnancies with SCA in the West of Scotland and Grampian, 64 (53%), 52 (43%) and 5 (4%) led to a live birth, termination and intrauterine death, respectively. Of the 64 live births, 21 (33%) had a postnatal karyotype and 35 (54%) received specialist follow-up for the SCA that was identified prenatally.ConclusionsAbnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo a prenatal karyotype. There is a need to review the prenatal as well as postnatal care of the affected mother and offspring.</description><subject>Amniocentesis</subject><subject>Babies</subject><subject>Chromosomes</subject><subject>Counseling</subject><subject>Female</subject><subject>Health risk assessment</subject><subject>Humans</subject><subject>Karyotypes</subject><subject>Karyotyping</subject><subject>Laboratories</subject><subject>Offspring</subject><subject>Perinatal Care</subject><subject>Postpartum period</subject><subject>Pregnancy</subject><subject>Pregnancy Outcome</subject><subject>Prenatal Diagnosis</subject><subject>Retrospective Studies</subject><subject>Scotland - epidemiology</subject><subject>Sex Chromosome Aberrations - statistics & numerical data</subject><subject>Stillbirth</subject><issn>1359-2998</issn><issn>1468-2052</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkV1LwzAUhoMobk7_ghS88aaaj-brUoZTYeDNvC5pmrCMtplJC_rvTe0U8WpXJ-Q85z0kDwAZgncIEXavgt7WLuqta-ocQ0RzAiUT6ATMUcFEuqL4NJ0JlTmWUszARYw7CCHinJ-DGWacFQVmc7DabE3mh177NlWb7YPpVK-azNWm6511WvXOd2Mrmo9Mb4NvfRxhVXU-tKpxvTPxEpxZ1URzdagL8LZ63Cyf8_Xr08vyYZ1XhYR9bmAFrZSVJYxTw2FlKMM1stpqRTEVltec25rL1MW24sQgW1AmVSEYllqSBbidcvfBvw8m9mWbvsE0jeqMH2KJBKIcCiH4MSgWMrEwoTf_0J0fQpce8h0oOcZEJEpMlA4-xmBsuQ-uVeGzRLActZR_tZSjlnLSkkavDwuGqjX17-CPhwSQCaja3fGxX9snnMI</recordid><startdate>20160901</startdate><enddate>20160901</enddate><creator>Lucas-Herald, Angela K</creator><creator>Cann, Fiona</creator><creator>Crawford, Lorna</creator><creator>Morrison, Holly</creator><creator>Boroujerdi, Massoud</creator><creator>Nelson, Scott M</creator><creator>Ahmed, S Faisal</creator><creator>McGowan, Ruth</creator><general>BMJ Publishing Group LTD</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>20160901</creationdate><title>The outcome of prenatal identification of sex chromosome abnormalities</title><author>Lucas-Herald, Angela K ; Cann, Fiona ; Crawford, Lorna ; Morrison, Holly ; Boroujerdi, Massoud ; Nelson, Scott M ; Ahmed, S Faisal ; McGowan, Ruth</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b490t-e0b0f99bf3675e70be562d1fcfca5258f7d77fd7975e2fb73e1f4569a48629c93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Amniocentesis</topic><topic>Babies</topic><topic>Chromosomes</topic><topic>Counseling</topic><topic>Female</topic><topic>Health risk assessment</topic><topic>Humans</topic><topic>Karyotypes</topic><topic>Karyotyping</topic><topic>Laboratories</topic><topic>Offspring</topic><topic>Perinatal Care</topic><topic>Postpartum period</topic><topic>Pregnancy</topic><topic>Pregnancy Outcome</topic><topic>Prenatal Diagnosis</topic><topic>Retrospective Studies</topic><topic>Scotland - epidemiology</topic><topic>Sex Chromosome Aberrations - statistics & numerical data</topic><topic>Stillbirth</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lucas-Herald, Angela K</creatorcontrib><creatorcontrib>Cann, Fiona</creatorcontrib><creatorcontrib>Crawford, Lorna</creatorcontrib><creatorcontrib>Morrison, Holly</creatorcontrib><creatorcontrib>Boroujerdi, Massoud</creatorcontrib><creatorcontrib>Nelson, Scott M</creatorcontrib><creatorcontrib>Ahmed, S Faisal</creatorcontrib><creatorcontrib>McGowan, Ruth</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Archives of disease in childhood. Fetal and neonatal edition</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lucas-Herald, Angela K</au><au>Cann, Fiona</au><au>Crawford, Lorna</au><au>Morrison, Holly</au><au>Boroujerdi, Massoud</au><au>Nelson, Scott M</au><au>Ahmed, S Faisal</au><au>McGowan, Ruth</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The outcome of prenatal identification of sex chromosome abnormalities</atitle><jtitle>Archives of disease in childhood. Fetal and neonatal edition</jtitle><addtitle>Arch Dis Child Fetal Neonatal Ed</addtitle><date>2016-09-01</date><risdate>2016</risdate><volume>101</volume><issue>5</issue><spage>F423</spage><epage>F427</epage><pages>F423-F427</pages><issn>1359-2998</issn><eissn>1468-2052</eissn><abstract>ObjectiveThe outcome of a pregnancy following identification of a sex chromosome abnormality (SCA) is unclear. The aims of this study were to ascertain the prevalence of SCA detected prenatally in Scotland and to determine the outcomes for these cases.DesignFollowing retrospective identification of all prenatal karyotypes performed in Scotland between 2000 and 2012, data linkage was performed to obtain information regarding maternal characteristics and pregnancy outcomes. Detailed outcome data were also collected for all affected offspring in the West of Scotland and Grampian regions within Scotland.ResultsOf the 28 145 pregnancies that had a karyotype over the study period, records were available for 27 152 (96%). Karyotype abnormalities were identified in 2139 (8%), with SCA being identified in 321(1%) tests. 45,X was identified as the commonest SCA in 135 pregnancies. Of 121 pregnancies with SCA in the West of Scotland and Grampian, 64 (53%), 52 (43%) and 5 (4%) led to a live birth, termination and intrauterine death, respectively. Of the 64 live births, 21 (33%) had a postnatal karyotype and 35 (54%) received specialist follow-up for the SCA that was identified prenatally.ConclusionsAbnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo a prenatal karyotype. There is a need to review the prenatal as well as postnatal care of the affected mother and offspring.</abstract><cop>England</cop><pub>BMJ Publishing Group LTD</pub><pmid>26764426</pmid><doi>10.1136/archdischild-2015-309681</doi></addata></record> |
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| ispartof | Archives of disease in childhood. Fetal and neonatal edition, 2016-09, Vol.101 (5), p.F423-F427 |
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| subjects | Amniocentesis Babies Chromosomes Counseling Female Health risk assessment Humans Karyotypes Karyotyping Laboratories Offspring Perinatal Care Postpartum period Pregnancy Pregnancy Outcome Prenatal Diagnosis Retrospective Studies Scotland - epidemiology Sex Chromosome Aberrations - statistics & numerical data Stillbirth |
| title | The outcome of prenatal identification of sex chromosome abnormalities |
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