{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:23:28Z","timestamp":1787027008351,"version":"build-2736575974"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T00:00:00Z","timestamp":1723593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      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&amp;gt;T, c.1075delG, c.610-1G&amp;gt;A, c.7769C&amp;gt;T) in the\n                      <jats:italic>ABCC8<\/jats:italic>\n                      ,\n                      <jats:italic>CDKL5<\/jats:italic>\n                      ,\n                      <jats:italic>PLA2G6<\/jats:italic>\n                      , and\n                      <jats:italic>NIPBL<\/jats:italic>\n                      genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2024.1419495","type":"journal-article","created":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T02:10:41Z","timestamp":1723601441000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study"],"prefix":"10.3389","volume":"12","author":[{"given":"Xue","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruimiao","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunfan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JuanJuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baozhu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhankui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiping","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,8,14]]},"reference":[{"key":"B1","volume-title":"Newborns: Improving Survival and Well-Being","year":"2020"},{"key":"B2","volume-title":"Levels and Trends in Child Mortality\u2014Report 2018","year":"2018"},{"key":"B3","doi-asserted-by":"publisher","first-page":"e042654","DOI":"10.1136\/bmjopen-2020-042654","article-title":"Neonatal mortality and leading causes of deaths: a descriptive study in China, 2014\u20132018","volume":"11","author":"Liu","year":"2021","journal-title":"BMJ Open"},{"key":"B4","first-page":"127","article-title":"Identification of causes of neonatal mortality using the ICD-10 classification: a study in neonatal intensive care units in Alexandria governorate (MOHP)","volume":"78","author":"Fikry","year":"2003","journal-title":"J Egypt Public Health Assoc"},{"key":"B5","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/ppe.12206","article-title":"Contribution of congenital anomalies to neonatal mortality rates in Malta","volume":"29","author":"Gatt","year":"2015","journal-title":"Paediatr Perinat Epidemiol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"e183","DOI":"10.3346\/jkms.2021.36.e183","article-title":"Environmental and genetic risk factors of congenital anomalies: an umbrella review of systematic reviews and meta-analyses","volume":"36","author":"Lee","year":"2021","journal-title":"J Korean Med Sci"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e57244","DOI":"10.1371\/journal.pone.0057244","article-title":"Reducing neonatal mortality in India: critical role of access to emergency obstetric care","volume":"8","author":"Rammohan","year":"2013","journal-title":"PLoS One"},{"key":"B8","volume-title":"Transforming our World: The 2030 Agenda for Sustainable Development. Sustainable Development Summit","year":"2015"},{"key":"B9","volume-title":"Practice of Neonatology","author":"Shao","year":"2019"},{"key":"B10","volume-title":"International Classification of Diseases and Health-Related Problems. 10th Revision","author":"Dong","year":"2008"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2458-13-S3-S2","article-title":"The associations of parity and maternal age with small-for-gestational-age, preterm, and neonatal and infant mortality: a meta-analysis","volume":"13","author":"Kozuki","year":"2013","journal-title":"BMC Public Health"},{"key":"B12","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1007\/s12519-017-0101-y","article-title":"Trend and causes of neonatal mortality in a level III children\u2019s hospital in Shanghai: a 15-year retrospective study","volume":"14","author":"Wang","year":"2018","journal-title":"World J Pediatr"},{"key":"B13","doi-asserted-by":"publisher","first-page":"42","DOI":"10.5546\/aap.2018.eng.42","article-title":"Neonatal mortality and associated factors in newborn infants admitted to a neonatal care unit","volume":"116","author":"Reyes","year":"2018","journal-title":"Arch Argent Pediatr"},{"key":"B14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12889-019-8118-x","article-title":"Neonatal mortality and associated factors in the specialized neonatal care unit Asmara, Eritrea","volume":"20","author":"Andegiorgish","year":"2020","journal-title":"BMC Public Health"},{"key":"B15","doi-asserted-by":"publisher","first-page":"20503121221146068","DOI":"10.1177\/20503121221146068","article-title":"Clinical outcome and associated factors of respiratory distress syndrome among preterm neonates admitted to the neonatal intensive care unit of Adama Hospital and Medical College","volume":"10","author":"Bacha","year":"2022","journal-title":"SAGE Open Med"},{"key":"B16","doi-asserted-by":"publisher","first-page":"2333794X20960264","DOI":"10.1177\/2333794X20960264","article-title":"Hematologic profiles of Ethiopian preterm infants with clinical diagnoses of early-onset sepsis, perinatal asphyxia, and respiratory distress syndrome","volume":"7","author":"Tigabu Kebede","year":"2020","journal-title":"Glob Pediatr Health"},{"key":"B17","doi-asserted-by":"publisher","first-page":"e0222935","DOI":"10.1371\/journal.pone.0222935","article-title":"Potential causes of early death among admitted newborns in a rural Tanzanian hospital","volume":"14","author":"Moshiro","year":"2019","journal-title":"PLoS One"},{"key":"B18","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1159\/000360602","article-title":"European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the national rare disease plans","volume":"17","author":"Taruscio","year":"2014","journal-title":"Public Health Genomics"},{"key":"B19","first-page":"1","article-title":"Infant mortality in the United States, 2017: data from the period linked birth\/infant death file","volume":"68","author":"Ely","year":"2019","journal-title":"Natl Vital Stat Rep"},{"key":"B20","doi-asserted-by":"publisher","first-page":"763222","DOI":"10.3389\/fgene.2021.763222","article-title":"Spectrum analysis of inherited metabolic disorders for expanded newborn screening in a central Chinese population","volume":"12","author":"Li","year":"2021","journal-title":"Front Genet"},{"key":"B21","doi-asserted-by":"publisher","first-page":"1748","DOI":"10.1080\/14767058.2017.1326901","article-title":"Trends and characteristics of fetal and neonatal mortality due to congenital anomalies, Colombia 1999\u20132008","volume":"31","author":"Roncancio","year":"2018","journal-title":"J Matern Fetal Neonatal Med"},{"key":"B22","doi-asserted-by":"publisher","first-page":"e194","DOI":"10.2337\/dc20-1261","article-title":"Factors associated with hypoglycemia among neonates born to mothers with gestational diabetes mellitus","volume":"43","author":"Kole","year":"2020","journal-title":"Diabetes Care"},{"key":"B23","doi-asserted-by":"publisher","first-page":"914267","DOI":"10.3389\/fped.2022.914267","article-title":"Case report: congenital hyperinsulinemia with ABCC8 gene mutations","volume":"10","author":"Zhang","year":"2022","journal-title":"Front Pediatr"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12902-023-01527-8","article-title":"Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia","volume":"24","author":"Chang","year":"2024","journal-title":"BMC Endocr Disord"},{"key":"B25","doi-asserted-by":"publisher","first-page":"100926","DOI":"10.1016\/j.gim.2023.100926","article-title":"Provision and availability of genomic medicine services in level IV neonatal intensive care units","volume":"25","author":"Wojcik","year":"2023","journal-title":"Genet Med"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2024.1419495\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T02:10:46Z","timestamp":1723601446000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2024.1419495\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,14]]},"references-count":25,"alternative-id":["10.3389\/fped.2024.1419495"],"URL":"https:\/\/doi.org\/10.3389\/fped.2024.1419495","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,14]]},"article-number":"1419495"}}