A higher impact of less specific preconception carrier screening: a plea for a “one size fits all” approach?

When an autosomal recessive disorder is diagnosed in a child, this is often the first moment that parents find out that both of them are carriers of the same disorder. If they ask: “Could we have known beforehand that both of us are carriers of this disorder?”, the theoretical answer is “yes”, but the practical answer is often “no”, since carrier screening is not offered in the health care system in many places around the world. Yet, although these disorders are hereditary, most children with autosomal recessive disorders are born in families with a negative family history of the disease, and carrier screening would be the only effective strategy to inform couples of their risk before the birth of an affected child.