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Obstetric outcome in a patient with trisomy X
  1. PM Jayaram,
  2. K Bhatia
  1. East Lancashire Women's and Newborn Centre, Burnley, United Kingdom


Case This 30 yrs old patient who worked as a legal clerk had three pregnancies over three years. First one was complicated by preterm delivery and fetal growth restriction followed by second trimester miscarriage in second pregnancy. Third pregnancy was complicated by preterm labour and severe fetal growth restriction. She had no evidence of preeclampsia. Investigations were initiated and she was found to have 47XXX on karyotyping. Thrombophilia screen was negative.

Discussion Trisomy X is a sex chromosome anomaly caused by the presence of an extra X chromosome in females. Most are asymptomatic or mildly affected and generally have a normal phenotype. Hence, only 10% of individuals with trisomy X are actually diagnosed. There are reports of premature ovarian failure, recurrent miscarriage and cytogenetic abnormalities in patients with trisomy X. However, there are no reported cases of preterm labour, second trimester miscarriage and severe growth restriction in patients with trisomy X. The causal relationship of trisomy X and these complications cannot be ascertained. We may be missing many cases, as karyotyping is not routinely performed in patients with recurrent preterm delivery or recurrent fetal growth restriction. It is worth considering karyotyping in patients with obstetric picture similar to acquired or inherited thrombophilias, particularly in the absence of other causes.

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