Lee ahora

CNS-ICNA 2020

Descubre los aspectos más destacados de la conferencia

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.

Ology Medical Education is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by Ology Medical Education for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, Ology Medical Education recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of Ology Medical Education or the sponsor. Ology Medical Education assumes no liability for any material contained herein.