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| The development and challenges of expanded carrier screening |
| 1. International Hospital of Peking University, Beijing, 102206; 2. PLA General Hospital; 3. National Research Institute for Family Planning |
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Abstract Monogenic disorders occupies an important share in birth defects, especially recessive hereditary diseases. Carriers screening of monogenic disorders is an important part of the 3 levels prevention and control of birth defects. In recent years, expanded carriers screening has been widely promoted. This article will review the development and challenges of expanded carrier screening.
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