Who should be offered genetic carrier screening for cystic fibrosis and spinal muscular atrophy?

Offering genetic carrier screening for cystic fibrosis and spinal muscular atrophy to all women considering pregnancy is supported by current guidelines and practices in maternal-fetal medicine. These genetic conditions can be present even in families without a prior history of the diseases, as they can occur in carriers who may not show any symptoms. Therefore, proactive screening helps identify potential carriers before conception or early in pregnancy, allowing for informed reproductive choices.

By screening all women who are considering pregnancy, healthcare providers can identify those at risk of having children with these conditions and offer appropriate counseling and options based on the results. This approach aligns with the goal of preventing genetic disorders through informed decision-making in family planning, rather than limiting screening to specific groups based solely on age, family history, or previous pregnancies. Such a comprehensive strategy maximizes the opportunity for early intervention and informed choices regarding prenatal care and potential testing options during pregnancy.