Expanded carrier screening: A review of early implementation and literature.

摘要: Carrier screening is the practice of testing individuals to identify those at increased risks having children affected by genetic diseases. Professional guidelines on carrier have been available for more than 15 years, and historically targeted specific diseases that occur frequencies in defined ethnic populations. Enabled rapidly evolving technology, expanded aims carriers a broader array may be applied universally (equally across all groups). This new approach deviates from well-established criteria models. In this review, we summarize rationale using literature regarding clinical technical data, as well provider perspectives. We also discuss important avenues further research burgeoning field.