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The outcome of prenatal identification of sex chromosome abnormalities
  1. Angela K Lucas-Herald1,
  2. Fiona Cann2,
  3. Lorna Crawford3,
  4. Holly Morrison4,
  5. Massoud Boroujerdi1,
  6. Scott M Nelson5,
  7. S Faisal Ahmed1,
  8. Ruth McGowan4
  1. 1Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK
  2. 2North of Scotland Regional Genetics Service, Clinical Genetics Centre, Aberdeen, UK
  3. 3Cytogenetics Department, West of Scotland Genetics Laboratory, Southern General Hospital, Glasgow, UK
  4. 4Department of Clinical Genetics, Southern General Hospital, Glasgow, UK
  5. 5School of Medicine, University of Glasgow, New Lister Building, Glasgow Royal Infirmary, Glasgow, UK
  1. Correspondence to Professor S Faisal Ahmed, School of Medicine, University of Glasgow, Royal Hospital for Children, South Glasgow University Hospital Campus, 1345 Govan Road, Glasgow G51 4TF, UK; faisal.ahmed{at}glasgow.ac.uk

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.

  • Genetics
  • Outcomes research
  • Fetal Medicine
  • Endocrinology

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