Molecular genetics and metabolism · 2025
Effectiveness of newborn screening for X-linked disorders in females: A scoping review.
СтатьяScoping ReviewНазвание и аннотация: Перевод в очереди
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Geiger Hanabi, Furuta Yutaka, Phillips John A, Tinker Rory J
Аннотация
PURPOSE: Newborn screening (NBS) identifies thousands of infants annually with conditions amenable to early intervention. Although several X-linked (XL) conditions in NBS panels are viewed as primarily male disorders, emerging evidence shows females also present clinically. This scoping review evaluates NBS efficacy for detecting XL conditions in females.
METHODS: Twelve XL genetic disorders were identified through cross-referencing the Recommended Uniform Screening Panel, American College of Medical Genetics ACT sheets, and available literature. A systematic search and scoping review identified studies reporting NBS outcomes.
RESULTS: All twelve XL disorders reviewed affect females, often with milder phenotypes, likely due to X-inactivation. However, only 6/12 (50 %) of these conditions had relevant NBS data, and female cases were rare. Only 92/221 (42 %) of the studies included detected female cases. Skewed X-inactivation may modulate expression, leading to biomarker levels within reference ranges and reducing detection.
CONCLUSIONS: Although XL conditions affect both sexes, current NBS protocols rarely detect females or don't report sex-specific data at all. This absence highlights broader gaps in how screening outcomes are reported. Addressing these limitations may require sex-specific biomarker thresholds, alternative biomarkers, or genetic testing. Such efforts are necessary to ensure that NBS programs equitably serve all affected newborns.
METHODS: Twelve XL genetic disorders were identified through cross-referencing the Recommended Uniform Screening Panel, American College of Medical Genetics ACT sheets, and available literature. A systematic search and scoping review identified studies reporting NBS outcomes.
RESULTS: All twelve XL disorders reviewed affect females, often with milder phenotypes, likely due to X-inactivation. However, only 6/12 (50 %) of these conditions had relevant NBS data, and female cases were rare. Only 92/221 (42 %) of the studies included detected female cases. Skewed X-inactivation may modulate expression, leading to biomarker levels within reference ranges and reducing detection.
CONCLUSIONS: Although XL conditions affect both sexes, current NBS protocols rarely detect females or don't report sex-specific data at all. This absence highlights broader gaps in how screening outcomes are reported. Addressing these limitations may require sex-specific biomarker thresholds, alternative biomarkers, or genetic testing. Such efforts are necessary to ensure that NBS programs equitably serve all affected newborns.