Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 116

Women with a family history of intellectual disability that is confirmed or suspected to be due to fragile X syndrome are recommended to undergo carrier screening. Although neither ACOG nor ACMG recommends universal screening, guidelines state that it is reasonable to offer carrier screening to any individual requesting screening after appropriate counseling. If a woman is found to carry a premutation or full mutation, diagnostic testing should be offered. Chorionic villus sampling can determine number of CGG repeats but is limited in its ability to determine FMR1 gene methylation; amniocentesis can more reliably determine both repeat number and methylation status.