Genetic Counseling for Intellectual Disability in Iran

Intellectual disability (ID) is a major health care problem worldwide and a huge socio-economic burden. Our goal for genetic counseling is to provide reliable data for the best decision in families who suffer ID. Over the last10 years، 985 Iranian families with ID were referred to Genetics Research Center of USWR. After obtaining informed consent، their clinical profile was completed. As a primary investigation، karyotyping، Fragile X testing and metabolic screening were performed. Of the 985 families with ID، 859 (87. 2%) had an autosomal recessive disease، 32 (3. 2%) had an autosomal dominant disorder، and 94 (9. 5%) showed an X-linked recessive pattern. Two hundred and forty (24. 3%) out of 985 families with ID were associated with microcephaly of whom the causative MCPH genes was detected in 55 families. A total of 46 (4. 6%) families were diagnosed with fragile X syndrome. In 18 (1. 8%) cases، choromosomal abnormalities were detected. Among all families with autosomal recessive non-syndromic and syndromic ID، 150 (15. 22%) different mutations were identified using linkage analysis and next generation sequencing. In total، genetic counseling was performed for 224 (21. 7%) cases out of 214 ID families with known identified genetic defects which provided carrier detection and prenatal diagnosis services in 696 apparently healthy siblings in 214 families. Genetic counseling can help families through providing information about the recurrence risk، carrier detection، and offering prenatal diagnosis for future pregnancies. Therefore، genetic counseling is a suitable method for limiting and reducing the prevalence of ID in each population.