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Published on: September 12, 2017
A perinatal approach to genetic disorders in Irish Travellers: A review
Fionnuala Mone1, Fionnuala M McAuliffe1, Sally Ann Lynch2
1UCD Perinatal Research Centre, Obstetrics & Gynaecology, School of Medicine, University College Dublin, National Maternity Hospital, Dublin, Ireland.
Abstract:
Irish Travellers are an endogamous nomadic ethnic minority population mostly resident on the island of Ireland with smaller populations living in Europe & USA. As they practice consanguinity, rare and ultra-rare autosomal recessive conditions are observed which are infrequently seen in the general population. Awareness of the rare genetic disorders within an antenatal setting that recur within this population should facilitate quicker cost-effective diagnosis. These include disorders leading to recurrent miscarriage and multiple congenital anomalies. Prompt diagnosis and tailored management can affect prognosis and a multi-disciplinary team approach with the obstetrician, neonatologist and clinical geneticist should improve outcomes.
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