PT  - JOURNAL ARTICLE
AU  - Angela K Lucas-Herald
AU  - Fiona Cann
AU  - Lorna Crawford
AU  - Holly Morrison
AU  - Massoud Boroujerdi
AU  - Scott M Nelson
AU  - S Faisal Ahmed
AU  - Ruth McGowan
TI  - The outcome of prenatal identification of sex chromosome abnormalities
AID  - 10.1136/archdischild-2015-309681
DP  - 2016 Sep 01
TA  - Archives of Disease in Childhood - Fetal and Neonatal Edition
PG  - F423--F427
VI  - 101
IP  - 5
4099  - http://fn.bmj.com/content/101/5/F423.short
4100  - http://fn.bmj.com/content/101/5/F423.full
SO  - Arch Dis Child Fetal Neonatal Ed2016 Sep 01; 101
AB  - 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.