Macrocephalic leukoencephalopathy with subcortical cysts （MLC） is a rare hereditary neurological disorder inherited in an autosomal recessive or autosomal dominant manner. The main clinical manifestations of MLC include macrocephaly in infancy， motor developmental delay， cognitive deterioration， epilepsy， and progressive neurological dysfunction. At present， there is still a lack of specific drugs for the treatment of MLC， which brings a huge burden to families and society. Therefore， the screening for MLC carriers to reduce the birth rate of affected children is the key to the prevention and control of MLC. This expert consensus aims to guide MLC carrier screening and provide genetic counseling and interventions to reduce the risk of childbearing， so as to support clinical work and promote the standardized prevention and control of MLC.