The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series

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dc.contributor.author Houlihan, Orla A.
dc.contributor.author O'Donoghue, Keelin
dc.date.accessioned 2016-02-08T13:09:07Z
dc.date.available 2016-02-08T13:09:07Z
dc.date.issued 2013-11-18
dc.identifier.citation HOULIHAN, O. A. & O’DONOGHUE, K. 2013. The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series. BMC Pregnancy and Childbirth, 13:209, 1-9. http://dx.doi.org/10.1186/1471-2393-13-209 en
dc.identifier.volume 13 en
dc.identifier.startpage 1 en
dc.identifier.endpage 9 en
dc.identifier.issn 1471-2393
dc.identifier.uri http://hdl.handle.net/10468/2261
dc.identifier.doi 10.1186/1471-2393-13-209
dc.description.abstract Background: Trisomy 18 (T18) and trisomy 13 (T13) are the second and third commonest autosomal aneuploidy syndromes respectively. While specific aspects of affected pregnancies have been documented in the literature, few studies document the overall natural history of the trisomies. This study aimed to examine the natural history (including diagnosis, pregnancy outcome, complications and survival) of T18 and T13 pregnancies in a setting where termination of pregnancy for fetal abnormality is not available. Methods: Cases were identified using birth registers, labour ward records, annual reports, medical records, ultrasound reports and reports from prenatal genetic testing. All identified T18 and T13 pregnancies in the study region from 2001 to 2012 were included. Individual chart reviews were performed for each case. Data were analysed using SPSS Version 20. Results: Forty-six T18 and twenty-four T13 pregnancies were identified. Most T18 cases (65%) were diagnosed prenatally, while only one third (33%) of T13 cases were prenatally diagnosed. Only three T18 pregnancies and one T13 pregnancy were electively terminated. A proportion of undiagnosed infants were delivered by emergency caesarean section. 48% (T18) and 46% (T13) infants survived following birth, for a median of 1.5 days (T18) and 7 days (T13). One T13 infant is currently alive over one year of age. Conclusions: This large series provides information for professionals and women regarding the natural histories of trisomies 18 and 13. These pregnancies can go undiagnosed antenatally without routine anomaly scanning. While many fetuses die in-utero, postnatal survival is possible. en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher BioMed Central Ltd. en
dc.rights © Houlihan and O’Donoghue; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://​creativecommons.​org/​licenses/​by/​2.​0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. en
dc.rights.uri http://​creativecommons.​org/​licenses/​by/​2.​0 en
dc.subject Trisomy 18 en
dc.subject Trisomy 13 en
dc.subject Aneuploidy en
dc.subject Pregnancy en
dc.subject Clinical characteristics en
dc.subject Prenatal diagnosis en
dc.subject Trisomies 13 en
dc.subject Survival en
dc.subject Infants en
dc.subject Risk en
dc.title The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother Keelin O'Donoghue, Department of Obstetrics and Gynaecology, University College Cork, Cork, Ireland. +353-21-490-3000 Email: K.Odonoghue@ucc.ie en
dc.internal.availability Full text available en
dc.description.version Published Version en
dc.description.status Peer reviewed en
dc.identifier.journaltitle BMC Pregnancy and Childbirth en
dc.internal.IRISemailaddress k.odonoghue@ucc.ie en
dc.identifier.articleid 209


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© Houlihan and O’Donoghue; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://​creativecommons.​org/​licenses/​by/​2.​0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Except where otherwise noted, this item's license is described as © Houlihan and O’Donoghue; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://​creativecommons.​org/​licenses/​by/​2.​0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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