Eur J Hum Genet. 2025 Sep 27. doi: 10.1038/s41431-025-01953-3. Online ahead of print.
ABSTRACT
Reproductive genetic carrier screening (RGCS) is expanding in both public and private healthcare. The primary aim is to identify carrier status for genetic disorders, inform reproductive decision making and promote reproductive autonomy. As screening panels have increased, the potential for findings with personal health implications rises. We report the prevalence of COL4A3/COL4A4 heterozygous variants within a population undergoing RGCS in a private setting and propose a comprehensive management plan for the ongoing care of this patient cohort. Acknowledging that comprehensive guidelines exist for genetic testing and management of Alport syndrome as a broad patient group, this communication seeks to highlight the increasingly common finding of autosomal dominant Alport syndrome and proposes accessible and practical strategies for the clinicians encountering these patients.
PMID:41015616 | DOI:10.1038/s41431-025-01953-3
