OBJECTIVES: To evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS). METHODS: A prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies. RESULTS: No confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%). CONCLUSIONS NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.
Humans ; Infant, Newborn ; High-Throughput Nucleotide Sequencing/methods* ; Neonatal Screening/methods* ; Tandem Mass Spectrometry ; Prospective Studies ; Female ; Male ; Infant, Newborn, Diseases/diagnosis* ; Genetic Testing

Seizures are common clinical emergencies in neonatology, potentially leading to severe complications and directly impacting the neurodevelopmental prognosis of the infants with this condition. For primary healthcare providers, key clinical challenges include standardized emergency management, precise clinical diagnosis and treatment, and accurate assessment of referral indications. To assist primary healthcare providers in the prompt identification and standardized management of neonatal seizures, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association organized a panel of experts to develop the "Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal seizures (2025)", based on the latest clinical evidence and expert consensus. This guideline provides primary healthcare providers with 17 recommendations addressing nine common clinical questions in neonatal seizures.
Humans ; Infant, Newborn ; Seizures/therapy* ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis*

Neonatal transport is a crucial aspect of clinical work in neonatology, aimed at timely and safely transferring high-risk neonates from birth facilities or primary healthcare institutions to neonatal centers equipped for critical care. This ensures timely diagnosis and treatment, thereby reducing mortality and complications and improving outcomes. Currently, there is significant regional variation in neonatal transport practices across China. In response, the Subspecialty Group of Neonatology of Society of Pediatrics of Chinese Medical Association and the Editorial Board of Chinese Journal of Contemporary Pediatrics have jointly developed the "Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal transport (2025)". This guideline addresses 10 clinical issues related to neonatal transport and formulates 18 recommendations based on the best available evidence and expert consensus. It aims to provide a systematic approach to neonatal transport in primary care settings, tailored to the national context of China, offering guidance and decision-making support for primary healthcare providers.
Humans ; Infant, Newborn ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis* ; Transportation of Patients/standards*

To assist primary healthcare personnel in promptly and accurately identifying neonatal vomiting, providing precise diagnosis, standardized treatment, or timely referral for rescue, thereby reducing the occurrence of complications and ensuring the health of infants, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association has organized experts to formulate this consensus based on the latest clinical research advancements and thorough discussions. This consensus addresses eight common clinical issues faced by primary healthcare personnel and forms 21 recommendations.
Humans ; Infant, Newborn ; Vomiting/etiology* ; Primary Health Care ; Consensus ; Infant, Newborn, Diseases/diagnosis*

In order to further enhance the capacity of primary healthcare providers to perform neonatal resuscitation, and to reduce the incidence and mortality of asphyxia-related complications, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association, in collaboration with the Editorial Board of the Chinese Journal of Contemporary Pediatrics, organized experts to integrate the latest clinical research advances in neonatal resuscitation. Considering the realities of primary healthcare institutions, this guideline was developed after thorough expert discussion. The guideline addresses nine common issues concerning neonatal resuscitation faced by primary healthcare providers and provides 22 recommendations.
Humans ; Infant, Newborn ; Resuscitation/standards* ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis*

OBJECTIVES: To develop a quality control indicator system for neonatal screening of inherited metabolic diseases in obstetric settings, so as to provide a standardized tool for quality control in clinical neonatal screening of inherited metabolic diseases. METHODS: From March to May 2024, a literature review combined with expert clinical experience was conducted to develop a preliminary questionnaire on quality control indicators for neonatal screening of inherited metabolic diseases. The final indicator system was established after two rounds of the Delphi method, and the Analytic Hierarchy Process was used to determine indicator weights. RESULTS: Sixteen questionnaires were distributed in each of the two consultation rounds, with a valid response rate of 100% for both. The expert authority coefficients were 0.863 and 0.876, respectively. Kendall's coefficient of concordance for the importance and feasibility of the indicators ranged from 0.091 to 0.125. The final indicator system comprised 3 primary indicators, 8 secondary indicators, and 28 tertiary indicators for neonatal screening of inherited metabolic diseases in obstetric settings. CONCLUSIONS The quality control indicator system developed using the Delphi method demonstrates a strong systematic structure, high clinical adaptability, and strong operability, and can be effectively applied to quality control in neonatal screening of inherited metabolic diseases in obstetric settings.
Humans ; Infant, Newborn ; Neonatal Screening/standards* ; Quality Control ; Metabolism, Inborn Errors/diagnosis* ; Metabolic Diseases/diagnosis* ; Delphi Technique ; Female ; Quality Indicators, Health Care ; Pregnancy

To help primary healthcare providers promptly identify and effectively treat neonatal hypoglycemia, thereby reducing the risk of hypoglycemic encephalopathy, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association led the development of this expert consensus. Through thorough discussion, experts integrated recent clinical advances to formulate the "Expert consensus on the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal hypoglycemia (2025)". This consensus addresses 9 common clinical questions and provides 14 recommendations.
Humans ; Hypoglycemia/therapy* ; Infant, Newborn ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis* ; Consensus

Necrotizing enterocolitis (NEC), with the main manifestations of bloody stool, abdominal distension, and vomiting, is one of the leading causes of death in neonates, and early identification and diagnosis are crucial for the prognosis of NEC. The emergence and development of machine learning has provided the potential for early, rapid, and accurate identification of this disease. This article summarizes the algorithms of machine learning recently used in NEC, analyzes the high-risk predictive factors revealed by these algorithms, evaluates the ability and characteristics of machine learning in the etiology, definition, and diagnosis of NEC, and discusses the challenges and prospects for the future application of machine learning in NEC.
Infant, Newborn ; Humans ; Enterocolitis, Necrotizing/therapy* ; Infant, Newborn, Diseases ; Prognosis ; Gastrointestinal Hemorrhage/diagnosis* ; Machine Learning

OBJECTIVE: To analyze the blood free carnitine (C0) level and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency (PCD) and to determine its incidence in local area and explore the correlation between C0 level and genotype. METHODS: 148 043 newborns born in 9 counties (cities and districts) of Ningde city from September 2016 to June 2021 were selected as study subjects. Blood free carnitine and acyl carnitine of 148 043 neonates were analyzed. Variants of the SLC22A5 gene were screened in those with blood C0 < 10 µmol/L, or C0 between 10 ∼ 15 µmol/L. Correlation between the free carnitine level and genetic variants was analyzed. RESULTS: In total 17 neonates were diagnosed with PCD, which yielded a prevalence of 1/8 707 in the region. Twelve variants of the SLC22A5 gene were identified, with the common ones including c.760C>T, c.1400C>G and c.51C>G. Compared with those carrying other variants of the gene, children carrying the c.760C>T variant had significantly lower C0 values (P < 0.01). CONCLUSION The prevalence of PCD is relatively high in Ningde area, and intervention measures should be taken to prevent and control the disease. The c. 760C>T variant is associated with lower level of C0, which can provide a clue for the diagnosis.
Humans ; Infant, Newborn ; Cardiomyopathies/diagnosis* ; Carnitine ; Hyperammonemia/diagnosis* ; Muscular Diseases/genetics* ; Solute Carrier Family 22 Member 5/genetics*

OBJECTIVES: To study the clinical value of intestinal regional oxygen saturation (rSO₂) and C-reactive protein (CRP) in the diagnosis of necrotizing enterocolitis (NEC) in preterm infants. METHODS: A prospective observational study was conducted among the preterm infants who were hospitalized in Children's Hospital Affiliated to Anhui Medical University, from October 2020 to December 2021, with 22 infants in the NEC group and 35 infants in the non-NEC group. Intestinal rSO₂ was monitored 24 hours after a confirmed diagnosis of NEC in the NEC group, and serum CRP levels were measured before anti-infection therapy. In the non-NEC group, intestinal rSO₂ monitoring and serum CRP level measurement were performed at the corrospording time points. The two groups were compared in terms of intestinal rSO₂ and serum CRP level. The receiver operating characteristic (ROC) curve was used to analyze the value of intestinal rSO₂ alone, serum CRP alone, and intestinal rSO₂ combined with CRP in the diagnosis of NEC in preterm infants. RESULTS: Compared with the non-NEC group, the NEC group had a significantly lower level of intestinal rSO₂ (P<0.05) and a higher serum CRP level (P<0.05). The ROC curve analysis showed that intestinal rSO₂ had an optimal cut-off value of 50.75% in the diagnosis of NEC in preterm infants, with a sensitivity of 81.8%, a specificity of 85.7%, and an area under the ROC curve (AUC) of 89.4%; CRP had an optimal cut-off value of 12.05 mg/L in the diagnosis of NEC in preterm infant, with a sensitivity of 72.7%, a specificity of 74.3%, and an AUC of 74.8%; intestinal rSO₂ combined with CRP had a sensitivity of 90.9%, a specificity of 77.1%, and an AUC of 91.9% in the diagnosis of NEC. The AUC of intestinal rSO₂ alone in the diagnosis NEC was higher than that of CRP (P<0.05). There was no significant difference in the AUC between intestinal rSO₂ alone and intestinal rSO₂ combined with CRP (P>0.05). CONCLUSIONS The value of intestinal rSO₂ in the diagnosis NEC is higher than that of CRP, and is equivalent to that of the combination of intestinal rSO₂ and CRP in preterm infants.
Infant ; Child ; Infant, Newborn ; Humans ; Enterocolitis, Necrotizing/diagnosis* ; Infant, Premature ; C-Reactive Protein/analysis* ; Oxygen Saturation ; Infant, Newborn, Diseases