FMR1 premutation
Clinical teaching and practical ideas for your next study session.
Case Discussion
An 80-CGG-Repeat FMR1 Result at 11 Weeks: Choose the Test That Answers the Right Question
An increased nuchal translucency and a family history suggestive of Fragile X create two separate diagnostic questions. This case discussion shows why cfDNA cannot answer the FMR1 question and how to choose between CVS and amniocentesis while evaluating the NT finding in parallel.