Question

Which diagnostic method is used specifically to detect Fragile X syndrome in amniotic fluid samples?

Options

• Karyotyping of cultured fetal cells

• Hemoglobin electrophoresis

• Methylation study on amniotic fluid

• Measurement of AFP levels

Answer 1

Fragile X syndrome is detected through methylation studies on amniotic fluid samples. This genetic condition, caused by a trinucleotide repeat expansion and hypermethylation of the FMR1 gene, requires specialized molecular analysis rather than conventional karyotyping.