Fragile X and reproductive genetic carrier screening

GPs play a central role in offering screening, explaining results, recognising fragile X-associated conditions and co-ordinating appropriate referrals

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Reproductive genetic carrier screening can determine an individual’s or reproductive couple’s chance of having children with certain inherited genetic conditions. The conditions screened for are typically autosomal recessive and X-linked and may cause serious childhood illness and/or disability.

MBS items 73451 (index patient) and 73452 (partner testing) have been funded for three-gene reproductive carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome (FXS) since November 2023. Screening is available to any Medicare-eligible female who is pregnant or planning pregnancy, regardless of family history.

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