Screening and genetic analysis of newborns with congenital adrenal cortex disease in Dongying city
Objective The aim of this study was to investigate the prevalence and genetic mutations of congenital adrenal hyperplasia in Dongying city.Methods A total of 204655 newborns born in all midwifery institutions in three districts and two counties of Dongying city from January 2015 to December 2022 were included in the study.Time-resolved fluoro-immunoassay was used to detect the level of 17α-hydroxyprogesterone,and the suspicious children were then recalled for review.The recalled children were further clinically diagnosed according to relevant clinical manifestations combined with auxiliary detection.Meanwhile,Sanger sequencing combined with MLPA technology were used to detect the 21-hydroxylase gene of the children to determine the genotype.Results From January 2015 to December 2022,a total of 204655 newborns were screened in Newborn Screening Center of Dongying of Dongying Maternal and Child Health Care Hospital,of which 1678 were positive,and 17 were confirmed.The diagnosed infants were aged from 6 to 28 days,with an incidence rate of 1/12039.C.293-13A/C>G is a hot-spot variant in this region with an incidence of 25%.Conclusion Neonatal disease screening can diagnose children with congenital adrenal hyperplasia early,prevent the occurrence of life-threatening adrenal crisis,and significantly improve the prognosis of children.