Fragile X syndrome screening

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.

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.

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