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爱尔兰游民围产期遗传疾病研究方法综述

A perinatal approach to genetic disorders in Irish Travellers: A review.

作者信息

Mone Fionnuala, McAuliffe Fionnuala M, Lynch Sally Ann

机构信息

UCD Perinatal Research Centre, Obstetrics & Gynaecology, School of Medicine, University College Dublin, National Maternity Hospital, Dublin, Ireland.

National Rare Disease Office, Mater Misericordiae University Hospital, Dublin 7, Ireland; UCD Academic Centre on Rare Diseases, University College Dublin, Dublin 4 Ireland.

出版信息

Eur J Obstet Gynecol Reprod Biol. 2018 Sep;228:43-47. doi: 10.1016/j.ejogrb.2018.06.013. Epub 2018 Jun 9.

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.

摘要

爱尔兰游民是一个实行族内通婚的游牧少数民族群体,大多居住在爱尔兰岛,在欧洲和美国也有少量人口。由于他们有近亲结婚的习俗,所以会出现一些罕见和极其罕见的常染色体隐性疾病,而这些疾病在普通人群中并不常见。在产前环境中了解该群体中复发的罕见遗传疾病,应有助于更快地进行具有成本效益的诊断。这些疾病包括导致反复流产和多发性先天性异常的疾病。及时诊断和针对性管理会影响预后,由产科医生、新生儿科医生和临床遗传学家组成的多学科团队方法应能改善治疗结果。

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