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Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project.
Wang, Huijun; Xiao, Feifan; Qian, Yanyan; Wu, Bingbing; Dong, Xinran; Lu, Yulan; Cheng, Guoqiang; Wang, Laishuan; Yan, Kai; Yang, Lin; Chen, Liping; Kang, Wenqing; Li, Long; Pan, Xinnian; Wei, Qiufen; Zhuang, Deyi; Chen, Dongmei; Yin, Zhaoqing; Yang, Ling; Ni, Qi; Liu, Renchao; Li, Gang; Zhang, Ping; Li, Xu; Peng, Xiaomin; Wang, Yao; Chen, Huiyao; Ma, Xiaojing; Liu, Fang; Cao, Yun; Huang, Guoying; Zhou, Wenhao.
Afiliación
  • Wang H; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Xiao F; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Qian Y; Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Wu B; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Dong X; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Lu Y; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Cheng G; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Wang L; Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Yan K; Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Yang L; Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Chen L; Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Kang W; Department of Neonatology, Jiangxi Provincial Children's Hospital, Nanchang, Jiangxi, China.
  • Li L; Department of Neonatology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan, China.
  • Pan X; Department of Neonatology, The People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China.
  • Wei Q; Department of Neonatology, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.
  • Zhuang D; Department of Neonatology, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.
  • Chen D; Department of Pediatrics, Xiamen Children's Hospital, Xiamen, Fujian, China.
  • Yin Z; Department of Neonatal Intensive Care Unit, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian, China.
  • Yang L; Department of Neonatology, The People's Hospital of Dehong, Dehong, Yunnan, China.
  • Ni Q; Department of Neonatology, Hainan Women and Children's Medical Center, Haikou, Hainan, China.
  • Liu R; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Li G; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Zhang P; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Li X; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Peng X; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Wang Y; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Chen H; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Ma X; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Liu F; Cardiovascular Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Cao Y; Cardiovascular Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Huang G; Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Zhou W; Cardiovascular Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China zhouwenhao@fudan.edu.cn gyhuang@shmu.edu.cn.
J Med Genet ; 60(3): 247-253, 2023 03.
Article en En | MEDLINE | ID: mdl-35595280
ABSTRACT

BACKGROUND:

Congenital heart defects (CHDs) are the most common type of birth defects. The genetic aetiology of CHD is complex and incompletely understood. The overall distribution of genetic causes in patients with CHD from neonatal intensive care units (NICUs) needs to be studied.

METHODS:

CHD cases were extracted from the China Neonatal Genomes Project (2016-2021). Next-generation sequencing results and medical records were retrospectively evaluated to note the frequency of genetic diagnosis and the respective patient outcomes.

RESULTS:

In total, 1795 patients were included. The human phenotype ontology term of atrial septal defect, patent ductus arteriosus and ventricular septal defect account for a large portion of the CHD subtype. Co-occurring extracardiac anomalies were observed in 35.1% of patients. 269 of the cases received genetic diagnoses that could explain the phenotype of CHDs, including 172 copy number variations and 97 pathogenic variants. The detection rate of trio-whole-exome sequencing was higher than clinical exome sequencing (21.8% vs 14.5%, p<0.05). Further follow-up analysis showed the genetic diagnostic rate was higher in the deceased group than in the surviving group (29.0% vs 11.9%, p<0.05).

CONCLUSION:

This is the largest cohort study to explore the genetic spectrum of patients with CHD in the NICU in China. Our findings may benefit future work on improving genetic screening and counselling for NICU patients with CHD.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Unidades de Cuidado Intensivo Neonatal / Cardiopatías Congénitas Tipo de estudio: Observational_studies Límite: Humans / Newborn País/Región como asunto: Asia Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Unidades de Cuidado Intensivo Neonatal / Cardiopatías Congénitas Tipo de estudio: Observational_studies Límite: Humans / Newborn País/Región como asunto: Asia Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: China