Nationwide, Couple-Based Genetic Carrier Screening

(Abstracted from N Engl J Med 2024;391:1877–1889) Couple-based genetic carrier screening analyzes parental genetic samples before or early in pregnancy to assess the risk of autosomal and X-linked recessive diseases in their children. Previously, carriers were often unidentified until after having an affected child but advances in sequencing now allow simultaneous screening across thousands of genes, giving prospective parents greater insight into their risk.

Authors

Publication Details

Journal
Obstetrical & Gynecological Survey
Published
2025-05-01
DOI
https://doi.org/10.1097/01.ogx.0001113780.63216.2a
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
0.00
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article

Nationwide, Couple-Based Genetic Carrier Screening

Susan Walker, Monica Ferrie, Sharyn Stock‐Myer, Zoe Fehlberg et al.
Obstetrical & Gynecological Survey
Cystic Fibrosis Research Advances
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Nationwide, Couple-Based Genetic Carrier Screening

Susan Walker, Monica Ferrie, Sharyn Stock‐Myer, Zoe Fehlberg, Jan Liebelt, Jane Fletcher, Dimitar N. Azmanov, Emily King, Sebastian Lunke, Jeanine Braithwaite, Jonathan P. Massie, Corrina Cliffe, Anaita Kanga‐Parabia, Evanthia O. Madelli, C. Lee, Tenielle Clinch, Tara Catchpool, Martin Bruce Delatycki, Belinda McClaren, Jade Caruana, Krislyn M. Boggs, M. R. Davis, A. Kulkarni, S. Edwards, Martin Downes, Tony Roscioli, Nigel G. Laing, Suneet Kaur, Marta Cifuentes, Rachael Casella, Tahlia Theodorou, Stefanie Eggers, Julie McGaughran, Mun-Bing Chow, Edwin Philip Kirk, Bruce Bennetts, Royston Ong, J. Beilby, Sarah Righetti, Loring Burnett, Sharon Lewis, K. Harrison, N. Pachter, Erin Tutty, Nila Quayum, Cindy Hunt, Paul Scuffham, Justine E. Marum, Amy Ruscigno, Camron Ebzery, Lisa Fitzgerald, Richard Allcock, Samantha Sundercombe, Alison D. Archibald, Jon Emery, Michele Wall, Katrina Fisk, Kristine K Barlow-Stewart, Yanbo Zhu, N. Lang, Stephanie Best, Janet C. Long, Katrina L. Scarff, Marina Berbic, Jane Halliday, Lisa Dive, Ainsley J. Newson, Fan Zhang, Laure Thomas, Mathew Wallis, G. Ho, T. Hardy, B. Rodrigues, M. Jackuelyn Harris, L. Neal Freeman, Sandra Jelenich, Julia Kennedy, Isabelle Danos, Lana Giameos, P. Kasi Pandy, T. F. Boughtwood
article en

Abstract

(Abstracted from N Engl J Med 2024;391:1877–1889) Couple-based genetic carrier screening analyzes parental genetic samples before or early in pregnancy to assess the risk of autosomal and X-linked recessive diseases in their children. Previously, carriers were often unidentified until after having an affected child but advances in sequencing now allow simultaneous screening across thousands of genes, giving prospective parents greater insight into their risk.

Obstetrical & Gynecological SurveyVol. 80(5)
Openalex Percentile: Top 85%
Cystic Fibrosis Research Advances
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