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. 2025 Jun 24;312(3):949–957. doi: 10.1007/s00404-025-08100-9
What is already known about this topic?
It is possible to reduce the risk of having a child with monogenic diseases by expanded carrier screening (ECS) during pregnancy or early in the pregnancy. The clinical utility of ECS has not been fully evaluated.
What does this study add?
38.50% of the population carries at least one recessive monogenic disorder, and through genetic counselling, maximizes the benefits of reproductive autonomy of 4.12% at-risk couples (ARCs).