脆性X综合征携带者筛查遗传咨询专家共识OACSTPCD

Fragile X syndrome is the most common monogenic disorder causing inherited intellectual disability and autism spectrum disorder.It is inherited by an incomplete dominant X-linked fashion.Approximately 99％of fragile X syndrome is caused by the CGG trinucleotide repeat expansion of FMR1 gene,and the corresponding phenotype may appear when CGG expansion reaches pre-mutation or full mutation.Carrier screening of fragile X syndrome has been increasingly undertaken in China,yet the ability of genetic counselling is relatively insufficient.In order to conduct a more standardized genetic counselling and a better fertility guidance,the Consensus Expert Group on Carrier Screening for Monogenic Disorders and Genetic Counselling Group in Society of Medical Genetics,Chinese Medical Association have reached a consensus on the appropriate testing population and the content of pre-and post-test genetic counselling for fragile X syndrome through multiple rounds of discussion and Delphi procedure.