Potential Impact of Prenatal Expanded Carrier Screening on the Incidence of Duchenne Muscular Dystrophy in Neonates

With increasing uptake of prenatal maternal genetic screening, in conjunction with continuing expansion of gene lists for rare disorders, it is suggested that rare disorder incidence may decrease over time, either by avoiding an affected pregnancy with the help of artificial reproductive technology or pregnancy termination when prenatal diagnosis is initiated by ECS.

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Publication Details

Journal
Fetal Diagnosis and Therapy
Published
2025-10-14
DOI
https://doi.org/10.1159/000548968
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
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article

Potential Impact of Prenatal Expanded Carrier Screening on the Incidence of Duchenne Muscular Dystrophy in Neonates

Yvonne Sheldon, Richard B. Parad, Francis Coyne, Desiree Lanehart
Fetal Diagnosis and Therapy
Prenatal Screening and Diagnostics
article

Potential Impact of Prenatal Expanded Carrier Screening on the Incidence of Duchenne Muscular Dystrophy in Neonates

Yvonne Sheldon, Richard B. Parad, Francis Coyne, Desiree Lanehart
article en

Abstract

With increasing uptake of prenatal maternal genetic screening, in conjunction with continuing expansion of gene lists for rare disorders, it is suggested that rare disorder incidence may decrease over time, either by avoiding an affected pregnancy with the help of artificial reproductive technology or pregnancy termination when prenatal diagnosis is initiated by ECS.

Fetal Diagnosis and Therapy
Brigham and Women's Hospital (US), Harvard University (US)
Openalex Percentile: Top 59%
Prenatal Screening and Diagnostics
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