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在基因组医学时代提供产前筛查:实用指南。

Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.

作者信息

Allyse Megan, Aypar Umut, Bonhomme Natasha, Darilek Sandra, Dougherty Michael, Farrell Ruth, Grody Wayne, Highsmith W Edward, Michie Marsha, Nunes Mark, Otto Laura, Pabst Rebecca, Palomaki Glenn, Runke Cassandra, Sharp Richard R, Skotko Brian, Stoll Katie, Wick Myra

机构信息

1 Biomedical Ethics Program, Mayo Clinic , Rochester, Minnesota.

2 Department of Laboratory Medicine and Pathology, Mayo Clinic , Rochester, Minnesota.

出版信息

J Womens Health (Larchmt). 2017 Jul;26(7):755-761. doi: 10.1089/jwh.2016.6098. Epub 2017 Apr 7.

Abstract

AIMS

In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice.

RESULTS

During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the pace of change in the prenatal screening market, uncertainty around reimbursement, meeting the need for patient counseling, and potential challenges in interpreting and returning cfDNA screening results.

INNOVATION

Here, we describe the challenges discussed and offer clinical recommendations for practices who are working to meet them.

CONCLUSION

As the spread of prenatal genetic screening continues, providers will increasingly need to update their practice to accommodate new screening modalities.

摘要

目的

2015年9月,梅奥诊所召集了一组全国性的产前筛查、医学遗传学以及妇产科实践领域的思想领袖。

结果

在为期两天的研讨会上,与会者讨论了转向使用母血清中无细胞胎盘DNA进行更广泛的产前筛查(cfDNA筛查)所带来的影响。关键主题包括产前筛查市场变化速度带来的挑战、报销方面的不确定性、满足患者咨询需求以及解读和反馈cfDNA筛查结果方面的潜在挑战。

创新

在此,我们描述所讨论的挑战,并为努力应对这些挑战的医疗机构提供临床建议。

结论

随着产前基因筛查的不断普及,医疗服务提供者将越来越需要更新其实践以适应新的筛查方式。

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