Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.

The results of neonatal screening shows that the incident of CH has increased from 1999 to 2022 in Zhejiang province and it is higher than than of national and global levels; while the incidence of HPA was similar to the national average. DUOX2 gene is the most common gene in CH patients with; c.728G>A (p.R243Q) is the hot spot variant in cPKU patients, while c.259C>T (p.P87S) is the hot spot variant in BH4D patients.