Antenatal Diagnosis of Neuromuscular Disorders

Abstract

The use of antenatal tests for routine screening of neuromuscular disorders is currently not recommended due to insufficient validated data justifying the merits and demerits. Currently, screening of neuromuscular disorders is done in research settings and on an individual case when a genetic etiology is suspected for which a confirmatory genetic diagnosis can be obtained more quickly and accurately by appropriate techniques. In the latter scenario, the patients are worked-up under the guidance of expert geneticists who form the core of a multidisciplinary team of experts. Genetic causes of neuromuscular disorders represent significant morbidity and mortality in patients, affected family members, and the public healthcare system [1]. Although recent clinical trials show promising results, current treatment strategies primarily are aimed at supportive care, rehabilitation, and delay the complications. Hence, genetic counseling and prenatal testing are the need of the hour for families at risk and in sporadic cases where imaging abnormalities are detected during antenatal screening.