Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population-Reference-Cited by-同舟云学术

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Published:2018-01-10 Issue:2 Volume:26 Page:166-175
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mathijssen Inge B.,Holtkamp Kim C. A.,Ottenheim Cecile P. E.,van Eeten-Nijman Janneke M. C.,Lakeman Phillis,Meijers-Heijboer Hanne,van Maarle Merel C.,Henneman Lidewij

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0056-4.pdf

Reference28 articles.

1. Metcalfe SA. Carrier screening in preconception consultation in primary care. J Community Genet. 2012;3:193–203.

2. Edwards JG, Feldman G, Goldberg J, et al. 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. Obstet Gynecol. 2015;125:653–62.

3. Henneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016;24:e1–e12.

4. Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC. Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod. 2011;26:972–7.

5. Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med. 2013;15:178–86.

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