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

被引：7

作者：

Allyse, Megan ^{[1
]}

Aypar, Umut ^{[2
]}

Bonhomme, Natasha ^{[3
]}

Darilek, Sandra ^{[4
]}

Dougherty, Michael ^{[5
]}

Farrell, Ruth ^{[6
]}

Grody, Wayne ^{[7
,8
,9
,10
,11
,12
]}

Highsmith, W. Edward ^{[2
]}

Michie, Marsha ^{[13
]}

Nunes, Mark ^{[14
,15
]}

Otto, Laura ^{[16
]}

Pabst, Rebecca ^{[17
]}

Palomaki, Glenn ^{[18
]}

Runke, Cassandra ^{[2
]}

Sharp, Richard R. ^{[1
]}

Skotko, Brian ^{[19
,20
]}

Stoll, Katie ^{[21
]}

Wick, Myra ^{[16
]}

机构：

[1] Mayo Clin, Biomed Eth Program, Rochester, MN USA

[2] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[3] Genet Alliance, Expecting Hlth, Washington, DC USA

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[5] Univ Colorado, Sch Med, Amer Soc Human Genet, Dept Pediat, Aurora, CO USA

[6] Cleveland Clin, Dept Obstet & Gynecol, Cleveland, OH 44106 USA

[7] UCLA Sch Med, Div Med Genet, Dept Pathol & Lab Med, Los Angeles, CA USA

[8] UCLA Sch Med, Div Med Genet, Dept Pediat, Los Angeles, CA USA

[9] UCLA Sch Med, Div Med Genet, Dept Human Genet, Los Angeles, CA USA

[10] UCLA Sch Med, Div Mol Diagnost, Dept Pathol & Lab Med, Los Angeles, CA USA

[11] UCLA Sch Med, Div Mol Diagnost, Dept Pediat, Los Angeles, CA USA

[12] UCLA Sch Med, Div Mol Diagnost, Dept Human Genet, Los Angeles, CA USA

[13] Univ Calif San Francisco, Inst Hlth & Aging, San Francisco, CA USA

[14] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[15] Kaiser Permanente, Dept Med Genet, San Diego, CA USA

[16] Mayo Clin, Dept Obstet & Gynecol, Rochester, MN USA

[17] Gundersen Hlth Syst, Dept Obstet & Gynecol, La Crosse, WI USA

[18] Brown Univ, Women & Infants Hosp, Dept Pathol & Lab Med, Alpert Med Sch, Providence, RI USA

[19] Massachusetts Gen Hosp, Dept Pediat, Div Med Genet, Boston, MA 02114 USA

[20] Harvard Med Sch, Dept Pediat, Boston, MA USA

[21] Genet Support Fdn, Olympia, WA USA

来源：

JOURNAL OF WOMENS HEALTH | 2017年 / 26卷 / 07期

关键词：

prenatal care; genetic testing; prenatal counseling; CELL-FREE DNA; ANEUPLOIDY;

D O I：

10.1089/jwh.2016.6098

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

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.

引用

页码：755 / 761

页数：7

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