Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2026 Mar 10;43(3):171-179. doi: 10.3760/cma.j.cn511374-20250922-00559.
ABSTRACT
High-throughput sequencing technology has recently been used in neonatal disease screening. To address the issues related to the screening process, interpretation of screening results, and recall of positive cases in neonatal genetic screening, this consensus has been formulated through discussions by experts from the National Neonatal Screening Group and other relevant fields. It has provided guidance to the genetic screening process, suggesting that both the personnel providing informed consent before blood collection and those responsible for recalling positive cases should have a basic understanding of genetic diseases, as well as the benefits and limitations of genetic screening. They are also advised to communicate this information effectively to the guardians of newborns. Regarding whether the genetic testing results should be interpreted as positive and whether positive cases need to be recalled, it is recommended that the determination should be made based on several key factors including the inheritance pattern of the genes, whether complementary biochemical or auditory screening has been conducted for the same condition, the possibility for false-negative results in biochemical screening, the possibility of late-onset manifestations, and the presence of pseudogenes. To enhance the practicality of this consensus, typical diseases of various categories are exemplified in accordance with the aforementioned principles for the interpretation of screening result and recall.
PMID:41916883 | DOI:10.3760/cma.j.cn511374-20250922-00559
