Abstract
The accuracy and precision of quantitative aspects of conventional newborn screening (NBS) are limited due to the complexity of clinical manifestations and the constraints of conventional screening methods. Gene sequencing is commonly employed as an adjunct diagnostic technique to assist in diagnosis. The combined utilization of traditional NBS and newborn genetic screening can effectively reduce false-negative and false-positive rates, thereby enhancing the accuracy and precision of screening, while minimizing the health impact caused by genetic diseases in infants. This study aim to explore the feasibility and effectiveness of newborn genetic screening in Ningxia. For the first time in Ningxia, a genetic sequencing panel based on multiplex PCR technology and next-generation sequencing (NGS) combined with traditional mass spectrometry (MS/MS) was used for initial NBS. This involved the analysis of 134 disease-causing genes covering 74 common inborn disorders. A total of 1837 newborns were screened from January 2020 to December 2021 in the Ningxia region, and 7 positive cases were detected by gene panel among the 1837 newborns including 1 PAH disorder, 1 DUOX2 disorder, 1 G6PD disorder and 4 MT-RNR1 disorders. However, no 1 has yet been detected using traditional NBS. The top ten high-frequency mutant genes detected in the panel test were arranged from high to low as follows: PAH, DUOX2, SLC26A4, GJB2, ATP7B, MMACHC, SLC22A5, ACADS, DUOXA2 and SLC25A13. Population-specific newborn genetic screening can facilitate the progress of genetic defect prevention and treatment.