中国异染性脑白质营养不良携带者筛查临床实践指南

Clinical practice guidelines for the screening of metachromatic leukodystrophy carriers in China

摘要:

异染性脑白质营养不良（MLD）是一种常染色体隐性遗传疾病，表现为进行性加重的运动、感觉、认知等障碍，致残致死率高，目前尚无有效治疗。因此，开展孕前及孕早期夫妇携带者筛查，降低患儿出生率是防控关键。该临床实践指南目的在于发现携带MLD突变基因的高风险人群，及早为其提供减少生育风险的遗传咨询，促进MLD的规范化防控。

Abstract:

Metachromatic leukodystrophy （MLD） is an autosomal recessive genetic disorder characterized by progressive aggravation of motor， sensory， and cognitive impairments， with high disability and mortality rates， and there are currently no effective treatment methods for MLD. Therefore， carrier screening among couples in pre-pregnancy and early pregnancy is crucial in reducing the birth rate of affected children. The clinical practice guidelines aim to identify the individuals at a high risk of carrying MLD mutation， offer early genetic counseling to reduce reproductive risks， and promote standardized prevention and control of MLD.