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Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.

ABSTRACT:

SUBMITTER: Ontario Health (Quality)

PROVIDER: S-EPMC10453298 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.

Ontario health technology assessment series 20230810 4

<h4>Background</h4>We conducted a health technology assessment to evaluate the safety, effectiveness, and cost-effectiveness of carrier screening programs for cystic fibrosis (CF), fragile X syndrome (FXS), hemoglobinopathies and thalassemia, and spinal muscular atrophy (SMA) in people who are considering a pregnancy or who are pregnant. We also evaluated the budget impact of publicly funding carrier screening programs, and patient preferences and values.<h4>Methods</h4>We performed a systematic ...[more]

PMID: 37637488

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