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International Journal of Neonatal Screening, Volume 11, Issue 2
2025 June - 26 articles
Cover Story: Cystic fibrosis (CF) is a rare, progressive genetic disease affecting over 100,000 people worldwide, and early diagnosis is critical. Newborn screening (NBS) is essential for babies born with CF. The published guideline addresses several issues that impact the equity and timeliness of CF NBS. For one parent, NBS did not work as it should have: “My son V’s NBS in Ohio was a false negative, and I was told he was a CF carrier. He didn’t receive his diagnosis until he was seven weeks old. As a mother of a Black son, I carry the weight of underrepresentation and disparities in care. My hope is that the NBS community can continue to make improvements and ensure that every child with CF, no matter their background, can thrive.” View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X