Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fragile X syndrome screening
Introduction
Overview
Overview
Routine screening for Fragile X syndrome is not recommended. Prenatal or preconceptional screening is only recommended among high risk individuals such as family members with history of mental retardation, movement disorders or Fragile X syndrome.
Screening
Screening
There is insufficient evidence to recommend routine screening for Fragile X syndrome. The gold standard test to look for CGG expansion is Polymerase chain reaction (PCR) followed by Southern blot test to refine expanded size and methylation status. For prenatal screening, samples are obtained from chorionic villus samples (CVS) at 11-13 weeks or amniocytes by amniocentesis at >15 weeks period of gestation.
References
References
Editor-In-Chief:
C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: