Abstract
Prenatal molecular-based carrier screening has evolved from testing relatives for known mutations within affected families to screening broad populations for genetic variants in many genes simultaneously. The evolution of prenatal carrier screening has been driven by technological advancements in gene sequencing, which have allowed for higher throughput and lower costs to sequencing. However, prenatal genetic carrier screening is unique when compared with other forms of health screening such as population-based screening for infectious diseases. There are challenges associated with results interpretation, the most appropriate conditions to screen, counseling patients, education of providers, and public policy. The challenges evolve with technology, new knowledge, and healthcare policy. It is imperative that clinicians understand the rationale, features, and potential pitfalls of prenatal genetic carrier screening and become prepared to incorporate carrier screening in their clinical practice.
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