[Impact of optimizing the quality control system on newborn screening outcomes for congenital hypothyroidism]

To evaluate the impact of an optimized quality control system on neonatal screening outcomes for congenital hypothyroidism (CH).

Screening data from 2013 to 2023 were retrospectively collected. Quality indicators were compared between the pre-optimization period (2013-2018) and the post-optimization period (2019-2023). The relationship between initial thyroid-stimulating hormone (TSH) screening values and positive predictive value (PPV) was examined.

A total of 1 264 541 neonates were screened, with a screening rate of 90.23%. The recall rate for initially positive cases was 94.87%, and the loss-to-follow-up rate was 5.13%. CH was confirmed in 419 infants, yielding a detection rate of 0.33‰ and a PPV of 3.60%. The median age at treatment initiation was 32 days. Compared with the pre-optimization period, the post-optimization period showed higher recall rate for initial positives, higher positivity among recalled cases, and higher CH detection rate, alongside a lower loss-to-follow-up rate; the age at treatment initiation was also reduced (all P<0.05). Neonates with initial TSH values ≥20.0 mIU/L had a PPV of 57.82%, significantly higher than those with TSH <20.0 mIU/L (P<0.001).

Optimizing the quality control system improves the quality of neonatal CH screening. Prioritizing the recall of neonates with initial TSH values ≥20.0 mIU/L may contribute to better prognosis.