Skip to main content

ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Neonatology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1419495
This article is part of the Research Topic The Physiological, pathological or pathophysiological characters for VRAC and its related genes View all articles

Analysis of the causes of neonatal death and genetic variations in congenital anomalies: A multi-center study

Provisionally accepted
Xue Yang Xue Yang Ruimiao Bai Ruimiao Bai Juan Zhang Juan Zhang *Yunfan Yang Yunfan Yang *Juanjuan Zhang Juanjuan Zhang Bao-Zhu Wang Bao-Zhu Wang *Zhankui Li Zhankui Li *Xiping Yu Xiping Yu *
  • Northwest Women’s and Children’s Hospital, Xian, China

The final, formatted version of the article will be published soon.

    Background: 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 highthroughput sequencing platforms were employed for detecting mutations causing congenital anomalies. Results: 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 ABCC8, CDKL5, PLA2G6, and NIPBL 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.

    Keywords: Mortality rate, Cause of Death, congenital anomalies, inherited metabolic disorders, Genetic Testing

    Received: 22 Apr 2024; Accepted: 29 Jul 2024.

    Copyright: © 2024 Yang, Bai, Zhang, Yang, Zhang, Wang, Li and Yu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Juan Zhang, Northwest Women’s and Children’s Hospital, Xian, China
    Yunfan Yang, Northwest Women’s and Children’s Hospital, Xian, China
    Bao-Zhu Wang, Northwest Women’s and Children’s Hospital, Xian, China
    Zhankui Li, Northwest Women’s and Children’s Hospital, Xian, China
    Xiping Yu, Northwest Women’s and Children’s Hospital, Xian, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.