新生儿重症监护病房足月新生儿喂养困难的特征与诊断：一项多中心研究

Characterization and diagnosis of feeding difficulties in full-term neonates in NICUs: a multicenter study.

作者信息

Wang Jing, Mao Jiaqi, Ze Bi, Ge Mengmeng, Hu Liyuan, Dong Xinran, Wu Bingbing, Lu Yulan, Wang Huijun, Cheng Guoqiang, Yang Lin, Xiao Tiantian, Zhou Wenhao

机构信息

Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.

Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.

出版信息

Pediatr Res. 2025 Jul 21. doi: 10.1038/s41390-025-04257-w.

DOI:10.1038/s41390-025-04257-w

PMID:40691290

Abstract

BACKGROUND

Feeding difficulties significantly impact neonatal well-being. This study explores the clinical characteristics, etiologies, and diagnostic practices for full-term neonates with feeding difficulties in neonatal intensive care units (NICUs).

METHODS

This retrospective cohort study recruited full-term infants admitted to NICUs participating in the China Neonatal Genome Project from March 2017 to December 2021, diagnosed with feeding difficulties persisting >72 h.

RESULTS

Among 220 patients, the most common symptoms were poor sucking (39.5%), vomiting (22.3%), and dysphagia (14.1%). High-yield diagnostic modalities included genetic tests (83/220, 37.3%), brain imaging (70/145, 48.3%), laryngoscopy (47/54, 87.0%), and muscle biopsy (12/28, 42.9%). A definitive etiology was identified through clinical evaluation in 100 cases (45.5%), 48 of which (21.8%) were subsequently confirmed by genetic testing. In an additional 35 cases (15.9%), genetic results contributed to diagnostic clarification or revision. Compared to neonates without genetic disorders, the 83 patients with genetic disorders were more likely to have persistent feeding difficulties, reduced muscle tone, craniofacial deformities, urinary and reproductive system malformations, and a need for invasive respiratory support (P < 0.05 for all).

CONCLUSION

Identifiable etiologies were found in over 60% cases, with genetic disorders representing a significant subset. Selective genetic testing and targeted diagnostic strategies are essential for managing feeding difficulties in this vulnerable population.

IMPACT

Feeding difficulties in full-term neonates admitted to NICUs remain under-recognized compared to those in preterm infants. This study provides a comprehensive overview of their clinical features and underlying etiologies, highlighting a substantial proportion with identifiable causes, including genetic and non-genetic factors (e.g., neuromuscular and gastrointestinal). By outlining the diagnostic yield of key modalities and their clinical relevance, our findings offer practical guidance for early evaluation of feeding difficulties in this vulnerable population.

摘要

背景

喂养困难对新生儿的健康有显著影响。本研究探讨新生儿重症监护病房（NICU）中足月新生儿喂养困难的临床特征、病因及诊断方法。

方法

这项回顾性队列研究纳入了2017年3月至2021年12月期间入住参与中国新生儿基因组计划的NICU的足月婴儿，这些婴儿被诊断为喂养困难持续超过72小时。

结果

在220例患者中，最常见的症状是吸吮无力（39.5%）、呕吐（22.3%）和吞咽困难（14.1%）。高诊断率的检查方式包括基因检测（83/220，37.3%）、脑部成像（70/145，48.3%）、喉镜检查（47/54，87.0%）和肌肉活检（12/28，42.9%）。通过临床评估确定了100例（45.5%）的明确病因，其中48例（21.8%）随后通过基因检测得到证实。另外35例（15.9%）中，基因检测结果有助于明确诊断或修正诊断。与无遗传疾病的新生儿相比，83例患有遗传疾病的新生儿更有可能出现持续性喂养困难、肌张力降低、颅面畸形、泌尿生殖系统畸形以及需要有创呼吸支持（所有P均<0.05）。