The outcome of prenatal identification of sex chromosome abnormalities

Lucas-Herald, A. K. , Cann, F., Crawford, L., Morrison, H., Boroujerdi, M., Nelson, S. M. , Ahmed, S. F. and McGowan, R. (2016) The outcome of prenatal identification of sex chromosome abnormalities. Archives of Disease in Childhood: Fetal and Neonatal Edition, 101(5), F423-F427. (doi:10.1136/archdischild-2015-309681) (PMID:26764426)

Lucas-Herald, A. K. , Cann, F., Crawford, L., Morrison, H., Boroujerdi, M., Nelson, S. M. , Ahmed, S. F. and McGowan, R. (2016) The outcome of prenatal identification of sex chromosome abnormalities. Archives of Disease in Childhood: Fetal and Neonatal Edition, 101(5), F423-F427. (doi:10.1136/archdischild-2015-309681) (PMID:26764426)

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Abstract

Objective: The 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. Design: Following 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. Results: Of 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. Conclusions: Abnormalities 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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Nelson, Professor Scott and Ahmed, Professor Syed Faisal and Boroujerdi, Dr Massoud and Crawford, Miss Lorna and Lucas-Herald, Dr Angela
Authors: Lucas-Herald, A. K., Cann, F., Crawford, L., Morrison, H., Boroujerdi, M., Nelson, S. M., Ahmed, S. F., and McGowan, R.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cardiovascular and Medical Sciences
College of Medical Veterinary and Life Sciences > Institute of Health and Wellbeing > MRC/CSO Unit
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Archives of Disease in Childhood: Fetal and Neonatal Edition
Publisher:BMJ Publishing Group
ISSN:1359-2998
ISSN (Online):1468-2052
Published Online:13 January 2016

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