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International perspectives on the implementation of reproductive carrier screening

International perspectives on the implementation of reproductive carrier screening
International perspectives on the implementation of reproductive carrier screening
Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.
0029-7844
Delatyki, Martin
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Alkuraya, Fowzan S.
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Archibald, Alison
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Castellani, Carlo
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Cornel, Martina C.
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Grody, Wayne W.
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Henneman, Lidewij
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Ioannides, Adonis S.
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Kirk, Edwin
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Laing, Nigel
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Lucassen, Anneke
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Massie, John
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Schuurmans, Juliette
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Thong, Meow-Keong
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Van Langen, Irene M.
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Zlotogora, Joel
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Delatyki, Martin
277cfd4e-9078-4412-9c5a-4b3bd6cec4bb
Alkuraya, Fowzan S.
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Archibald, Alison
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Castellani, Carlo
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Cornel, Martina C.
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Grody, Wayne W.
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Henneman, Lidewij
21159fc5-5af0-4e54-a312-2688b3da9419
Ioannides, Adonis S.
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Kirk, Edwin
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Laing, Nigel
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Lucassen, Anneke
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Massie, John
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Schuurmans, Juliette
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Thong, Meow-Keong
d1b4f346-840e-4c89-85db-c18ddc1bacf6
Van Langen, Irene M.
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Zlotogora, Joel
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Delatyki, Martin, Alkuraya, Fowzan S., Archibald, Alison, Castellani, Carlo, Cornel, Martina C., Grody, Wayne W., Henneman, Lidewij, Ioannides, Adonis S., Kirk, Edwin, Laing, Nigel, Lucassen, Anneke, Massie, John, Schuurmans, Juliette, Thong, Meow-Keong, Van Langen, Irene M. and Zlotogora, Joel (2019) International perspectives on the implementation of reproductive carrier screening. Obstetrics & Gynecology. (doi:10.1002/pd.5611).

Record type: Article

Abstract

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.

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RCS international overview revised 081119 - Accepted Manuscript
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Accepted/In Press date: 7 November 2019
e-pub ahead of print date: 27 November 2019

Identifiers

Local EPrints ID: 436934
URI: http://eprints.soton.ac.uk/id/eprint/436934
ISSN: 0029-7844
PURE UUID: 5ccd3eda-289e-4f1d-9ce5-3e0dd11afda6
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 14 Jan 2020 17:30
Last modified: 26 Nov 2021 06:31

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Contributors

Author: Martin Delatyki
Author: Fowzan S. Alkuraya
Author: Alison Archibald
Author: Carlo Castellani
Author: Martina C. Cornel
Author: Wayne W. Grody
Author: Lidewij Henneman
Author: Adonis S. Ioannides
Author: Edwin Kirk
Author: Nigel Laing
Author: Anneke Lucassen ORCID iD
Author: John Massie
Author: Juliette Schuurmans
Author: Meow-Keong Thong
Author: Irene M. Van Langen
Author: Joel Zlotogora

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