Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence-Risk Family

Background

Primary carnitine deficiency (PCD) is a treatable autosomal recessive disorder caused by SLC22A5 gene variants and included in newborn screening widely. However, its prevalence and variant spectrum vary greatly, and prenatal diagnosis for recurrence-risk families remains rare. This study assessed tandem mass spectrometry (MS/MS) combined with genetic testing in NBS and prenatal diagnosis of PCD in Yancheng, China, and described the local prevalence and variant characteristics.