A Re-Examination of the Use of Ethnicity in Prenatal Carrier Testing

A Re-Examination of the Use of Ethnicity in Prenatal Carrier Testing
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DOI:
10.1002/ajmg.a.34361
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发表时间:
2012-01-01
影响因子:
2
通讯作者:
Ross, Lainie Friedman
Ross, Lainie Friedman
中科院分区:
生物学3区
文献类型:
--
作者:
Ross, Lainie Friedman

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2011 年 4 月,美国妇产科医师大会(前身为美国妇产科学院 [ACOG])更新了关于囊性纤维化携带者筛查的政策,并提议,由于将单一种族分配给个人越来越困难,“因此,向所有患者提供 CF 携带者筛查是合理的。”然而,ACOG 继续在其关于镰状细胞病等常染色体隐性遗传疾病携带者检测的指南中使用种族细胞疾病(SCD)和泰萨克斯病(TSD)。这种做法与针对所有情况普遍提供的新生儿筛查 (NBS) 形成鲜明对比。在这篇手稿中,我评估了种族在 NBS 和携带者筛查中的不同作用。我认为 ACOG 需要采取 CF 目前针对所有情况进行产前携带者检测的立场。为了促进产前检测决策的公平性,医疗保健政策必须承认我们所服务的人群的多样性,并通过向所有人提供产前携带者检测,使所有妇女和夫妇能够做出更充分知情的生殖决定。 (C) 2011 年 Wiley 期刊公司。
In April 2011, the American Congress of Obstetricians and Gynecologists (formerly the American College of Obstetrics and Gynecology [ACOG]), updated its policy on carrier screening for cystic fibrosis and proposed that because of the increasing difficulty in assigning a single ethnicity to individuals, `` It is reasonable, therefore to offer CF carrier screening to all patients.''However, ACOG continues to use ethnicity in its guidelines about carrier testing for autosomalrecessive disorders like sickle cell disease (SCD) and Tay- Sachs disease (TSD). This practice is in marked contrast with newborn screening (NBS) which is universally provided for all conditions. In this manuscript, I evaluate the discrepant role of ethnicity in NBS and carrier screening. I argue that ACOG needs to adopt the position it now takes for CF regarding prenatal carrier testing for all conditions. To promote equity in prenatal testing decision making, health care policies must acknowledge the diversity of the populations that we serve and empower all women and couples to make more fully informed reproductive decisions by offering prenatal carrier testing to all. (C) 2011 Wiley Periodicals, Inc.