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阿曼尼兹瓦医院导致围产期死亡的致死性先天性畸形的基因分析。

Genetic analysis of lethal congenital malformations causing perinatal mortality at Nizwa Hospital, Oman.

作者信息

Sawardekar K P

机构信息

Department of Paediatrics, Nizwa Hospital, Sultanate of Oman.

出版信息

Clin Genet. 2004 Sep;66(3):239-43. doi: 10.1111/j.1399-0004.2004.00293.x.

Abstract

An analysis of lethal congenital malformations (LCM) - which contributed to perinatal mortality at Nizwa Hospital, Oman - is presented for a 10-year period from January 1993 through December 2002. Single gene, chromosomal or multifactorial inheritance accounted for 86.1% of the cases. LCM-related perinatal deaths were higher in Omani, compared to those in non-Omani births (p < 0.001). This could possibly be attributed to high consanguinity, low female literacy and high fertility rates in the Omani population. Forty per cent of LCM-related perinatal deaths in the study had potential options for prevention. Integration of a community-based genetic service into the existing health-care delivery system is suggested.

摘要

本文呈现了对1993年1月至2002年12月这10年间阿曼尼兹瓦医院导致围产期死亡的致死性先天性畸形(LCM)的分析。单基因、染色体或多因素遗传占病例的86.1%。与非阿曼人出生的情况相比,阿曼人LCM相关的围产期死亡更高(p < 0.001)。这可能归因于阿曼人群中较高的近亲结婚率、较低的女性识字率和较高的生育率。该研究中40%的LCM相关围产期死亡有潜在的预防措施。建议将基于社区的遗传服务纳入现有的医疗保健提供系统。

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