Literature DB >> 25730230

Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.

Janice G Edwards1, Gerald Feldman, James Goldberg, Anthony R Gregg, Mary E Norton, Nancy C Rose, Adele Schneider, Katie Stoll, Ronald Wapner, Michael S Watson.   

Abstract

The Perinatal Quality Foundation and the American College of Medical Genetics and Genomics, in association with the American College of Obstetricians and Gynecologists, the Society for Maternal-Fetal Medicine, and the National Society of Genetic Counselors, have collaborated to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine. This statement does not replace current screening guidelines, which are published by individual organizations to direct the practice of their constituents. As organizations develop practice guidelines for expanded carrier screening, further direction is likely. The current statement demonstrates an approach for health care providers and laboratories who wish to or who are currently offering expanded carrier screening to their patients.

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Year:  2015        PMID: 25730230     DOI: 10.1097/AOG.0000000000000666

Source DB:  PubMed          Journal:  Obstet Gynecol        ISSN: 0029-7844            Impact factor:   7.661


  103 in total

1.  "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.

Authors:  Alison D Archibald; Chriselle L Hickerton; Samantha A Wake; Alice M Jaques; Jonathan Cohen; Sylvia A Metcalfe
Journal:  J Community Genet       Date:  2016-02-03

2.  Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population.

Authors:  Ashley Reeves; Angela Trepanier
Journal:  J Genet Couns       Date:  2015-07-16       Impact factor: 2.537

3.  Expanded carrier screening: a current survey of physician utilization and attitudes.

Authors:  Allison Briggs; Parvaneh K Nouri; Michael Galloway; Kathleen O'Leary; Nigel Pereira; Steven R Lindheim
Journal:  J Assist Reprod Genet       Date:  2018-08-01       Impact factor: 3.412

4.  Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.

Authors:  Marian J Gilmore; Jennifer Schneider; James V Davis; Tia L Kauffman; Michael C Leo; Kellene Bergen; Jacob A Reiss; Patricia Himes; Elissa Morris; Carol Young; Carmit McMullen; Benjamin S Wilfond; Katrina A B Goddard
Journal:  J Genet Couns       Date:  2017-03-17       Impact factor: 2.537

5.  Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

Authors:  Lola Cook; Jeanine Schulze
Journal:  J Genet Couns       Date:  2017-06-30       Impact factor: 2.537

6.  Advantages of expanded universal carrier screening: what is at stake?

Authors:  Sanne van der Hout; Kim Ca Holtkamp; Lidewij Henneman; Guido de Wert; Wybo J Dondorp
Journal:  Eur J Hum Genet       Date:  2016-09-28       Impact factor: 4.246

7.  Business and Breakthrough: Framing (Expanded) Genetic Carrier Screening for the Public.

Authors:  Avery E Holton; Heather E Canary; Bob Wong
Journal:  Health Commun       Date:  2016-08-02

8.  Patient actions and reactions after receiving negative results from expanded carrier screening.

Authors:  S A Kraft; J L Schneider; M C Leo; T L Kauffman; J V Davis; K M Porter; C K McMullen; B S Wilfond; K A B Goddard
Journal:  Clin Genet       Date:  2018-03-13       Impact factor: 4.438

9.  Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.

Authors:  Erin Rothwell; Erin Johnson; Amber Mathiesen; Kylie Golden; Audrey Metcalf; Nancy C Rose; Jeffrey R Botkin
Journal:  J Genet Couns       Date:  2016-10-29       Impact factor: 2.537

10.  Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Authors:  Sumit Punj; Yassmine Akkari; Jennifer Huang; Fei Yang; Allison Creason; Christine Pak; Amiee Potter; Michael O Dorschner; Deborah A Nickerson; Peggy D Robertson; Gail P Jarvik; Laura M Amendola; Jennifer Schleit; Dana Kostiner Simpson; Alan F Rope; Jacob Reiss; Tia Kauffman; Marian J Gilmore; Patricia Himes; Benjamin Wilfond; Katrina A B Goddard; C Sue Richards
Journal:  Am J Hum Genet       Date:  2018-05-10       Impact factor: 11.025

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