Molecular genetics & genomic medicine
Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence-Risk Family
By Sun H, Zheng J, Zhou C and 6 others.
Abstract
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.
Methods
From 2015 to 2024, free carnitine (C0) levels were measured in neonatal dried blood spot (DBS) samples by MS/MS for PCD screening. Newborns with persistently low C0 levels were recalled for diagnostic evaluation. At diagnosis, the C0 levels in both neonatal and maternal blood were measured, and next-generation sequencing was performed for SLC22A5 variants in the newborns. For the recurrence-risk family with a previous proband, Sanger sequencing was used to confirm the parental origin of the proband's variants, and prenatal diagnosis with amniotic fluid was performed in the subsequent pregnancy.