Yang Xue, Bai Ruimiao, Zhang Juan, Yang Yunfan, Zhang JuanJuan, Wang Baozhu, Li Zhankui, Yu Xiping
Department of Health, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Front Pediatr. 2024 Aug 14;12:1419495. doi: 10.3389/fped.2024.1419495. eCollection 2024.
Neonatal deaths often result from preventable conditions that can be addressed with appropriate interventions. This study aims to analyze the distribution of the causes of neonatal death and explore genetic variations that lead to congenital anomalies in Northwest China.
This multi-center observational study was conducted across six medical centers in Shaanxi province, Northwest China. Clinical data were retrospectively collected from neonates admitted between 2016 and 2020. Kaplan-Meier analysis was utilized to estimate survival rates, while high-throughput sequencing platforms were employed to detect mutations causing congenital anomalies.
Among 73,967 neonates requiring hospital care, 424 neonatal deaths were recorded, leading to a neonatal mortality rate of 0.57%. The primary causes of death included neonatal respiratory distress syndrome (23.8%), birth asphyxia (19.8%), neonatal septicemia (19.3%), and congenital anomalies (13.6%). The leading causes of neonatal deaths due to congenital anomalies were congenital heart defects (38.6%), bronchopulmonary dysplasia (14.0%), and inherited metabolic disorders (10.5%). Genetic analysis identified 83 pathogenic or likely pathogenic variants in 23 genes among the neonates with congenital anomalies, including four novel mutations (c.4198+1G>T, c.1075delG, c.610-1G>A, c.7769C>T) in the , , , and genes.
Congenital anomalies represent a significant and preventable cause of neonatal deaths in Northwest China. Early detection of congenital anomalies through genetic testing and comprehensive prenatal care are crucial for reducing neonatal mortality rates and improving pregnancy outcomes.
新生儿死亡往往是由可通过适当干预措施解决的可预防状况导致的。本研究旨在分析中国西北地区新生儿死亡原因的分布情况，并探索导致先天性异常的基因变异。
本多中心观察性研究在中国西北陕西省的六个医疗中心开展。回顾性收集了2016年至2020年期间入院新生儿的临床数据。采用Kaplan-Meier分析来估计生存率，同时使用高通量测序平台检测导致先天性异常的突变。
在73967名需要住院治疗的新生儿中，记录到424例新生儿死亡，新生儿死亡率为0.57%。主要死亡原因包括新生儿呼吸窘迫综合征（23.8%）、出生窒息（19.8%）、新生儿败血症（19.3%）和先天性异常（13.6%）。先天性异常导致新生儿死亡的主要原因是先天性心脏病（38.6%）、支气管肺发育不良（14.0%）和遗传性代谢紊乱（10.5%）。基因分析在患有先天性异常的新生儿中的23个基因中鉴定出83个致病或可能致病的变异，包括在 、 、 、 基因中的四个新突变（c.4198+1G>T、c.1075delG、c.610-1G>A、c.7769C>T）。
先天性异常是中国西北地区新生儿死亡的一个重要且可预防的原因。通过基因检测和全面的产前护理早期发现先天性异常对于降低新生儿死亡率和改善妊娠结局至关重要。
