Reseach advances in screening of monogenic diseases in expanded carrier

Carrier screening is one of the effective means to identify the couples at risk of having monogenic disease and to guide reproduction. Gene detection technology as a screening method for single disease initially, its development makes it possible to detect different diseases at the same time, thus forming the "expanded carrier screening". Although more and more laboratories are carrying out expanded carrier screening, they still face challenges such as lack of public demand, low priority of health system, potential pressure of screening, consultation before and after testing, and technical limitations. Here, we summarize the development and research advances in expanded carrier screening at home and abroad.