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委员会意见 No.478:家族史作为风险评估工具。

Committee Opinion No. 478: Family history as a risk assessment tool.

出版信息

Obstet Gynecol. 2011 Mar;117(3):747-750. doi: 10.1097/AOG.0b013e318214780e.

Abstract

Family history plays a critical role in assessing the risk of inherited medical conditions and single gene disorders. Several methods have been established to obtain family medical histories, including the family history questionnaire or checklist and the pedigree. The screening tool selected should be tailored to the practice setting and patient population. It is recommended that all women receive a family history evaluation as a screening tool for inherited risk. Family history information should be reviewed and updated regularly, especially when there are significant changes to family history. Where appropriate, further evaluation should be considered for positive responses, with referral to genetic testing and counseling as needed.

摘要

家族史在评估遗传性疾病和单基因疾病的风险方面起着至关重要的作用。有几种方法可以获取家族病史,包括家族病史问卷或检查表和系谱。选择的筛查工具应根据实践环境和患者人群进行调整。建议所有女性都接受家族史评估,作为遗传性风险的筛查工具。应定期审查和更新家族史信息,特别是在家族史发生重大变化时。在适当的情况下,应对阳性反应进行进一步评估,并根据需要转介进行基因检测和咨询。

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