Couples screening reveals prevalence of variants linked to neuromuscular disorders

Preconception screening can help identify carriers of variants linked to neuromuscular disorders (NMDs) and other severe recessive genetic disorders (SRGDs), according to Dr Samantha Edwards of the University of Western Australia in Nedlands, Australia.

“Preconception genetic carrier screening provides individuals with meaningful information they can use to guide pregnancy planning based on their personal values,” Dr Edwards said. She noted that, while the risk of any specific SRGD is very low, collectively, an expected 1–2% of couples are at risk of having a child with an SRGD.

Dr Edwards and colleagues tested 225 non-pregnant couples in Western Australia using a targeted panel of 474 genes associated with SRGDs, including 108 associated with NMDs.

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