OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

BACKGROUND

Child malnutrition is a prevailing global public health concern especially in low- and middle-income countries. Conditional cash transfer (CCT) programs were implemented to help address this problem.

To determine the relationship between the nutritional status among 0-59 months old children and household enrollment in a Philippine CCT program, Pantawid Pamilyang Pilipino Program (4Ps).

A cross-sectional study was employed to 392 children and mothers/primary caregivers in a rural municipality in Leyte. Stratified random sampling technique was used in selecting the participants. Anthropometric characteristics were measured for these 392 children and were classified as 4Ps and non-4Ps members. Chi-square test was used to determine the relationship between the variables of interest.

4Ps household beneficiaries had mothers/primary caregivers who were older and had fewer years of education. The 4Ps beneficiary households had more household members and had lower average monthly income compared to the non-beneficiaries. No significant differences were found between the 4Ps beneficiary and non-beneficiary households in terms of the household hunger scale, the mean age of the children, and the sex distribution of the children included in the study. Specific profile components were found to be correlated to the children’s nutritional status. The age of the children was significantly associated to their length/height-for-age (L/HFA) wherein stunting was noted to occur among children older than 12 months of age. Maternal education was significantly associated to the weight-for-age (WFA) of the children. Children who were underweight had mothers/primary caregivers with fewer years of education. No significant correlation was found between the child’s sex, age of the mother/primary caregiver, household size, average monthly household income, and household hunger scale and the children’s nutritional status Lastly, there was no significant correlation between 4Ps household enrollment and the WFA and L/HFA status of the children. 4Ps household enrollment was, however, significantly correlated to the weight-for-length/height (WFL/H) or wasting status of the children.

The 4Ps program has the potential to enhance the nutritional outcomes of children hence the need to maximize its gains. In addition, the relationship of different sociodemographic variables with the children’s nutritional status reflects the complexity and multidimensionality of childhood malnutrition, implying the need for a holistic and multistakeholder approach in addressing the problem.

OBJECTIVE: This study described bronchiectasis profiles at the Philippine Children’s Medical Center (2021-2023). MATERIALS AND METHODS: A retrospective chart review at PCMC analyzed the demographic profile, imaging, management and outcome of patients with bronchiectasis enrolled in the Chronic Lung Disease Program from 2021-2023. Results: Twenty seven patients were included in this study. Most patients were diagnosed after the age of six and showed female predominance. The most common symptom at the time of diagnosis was chronic cough (81.5%) with pulmonary tuberculosis (51.9%) as the most common etiology. All patients were treated with cyclic azithromycin. Pseudomonas aeruginosa was the prevalent microorganism isolated in the sputum and tracheal aspirate samples of the patients (56.5%). Conclusion Patients with bronchiectasis were more commonly diagnosed in children past age of six with more prevalence in females. The most common symptom was chronic cough followed by fever, dyspnea and weight loss. Pulmonary tuberculosis and recurrent respiratory infections were noted to be the most common etiology with the left lower lobe most affected in HRCT. The most common phenotype seen was cystic, which is irreversible and a sign of progressive bronchiectasis, which may point to a late diagnosis. This emphasizes the need for physicians to have a high index of suspicion in patients with chronic or recurrent respiratory symptoms. All patients were treated with an oral macrolide with 25-31% of patients with decreased and/or absent symptoms. Pseudomonas aeruginosa was the prevalent microorganism isolated in the sputum and tracheal aspirate samples of the patients, which should be taken into account when treating for exacerbation.
Human ; Male,Female ; Infant newborn: First 28 days after birth ; Infant: 1-23 months ; Child Preschool: 2-5 yrs old ; Child: 6-12 yrs old ; Bronchiectasis ; Patients ; Tuberculosis ; Infections

Objective:To determine the effectiveness of a one-stage hearing screening protocol in detecting hearing loss in high risk newborns at the Neonatal Intensive Care Unit of the Jose R. Reyes Memorial Medical Center.

Methods:
Design:Cross-Sectional Study
Setting:Tertiary Government Training Hospital
Population:High-risk newborns admitted at the Neonatal Intensive Care Unit of the Jose R. Reyes Memorial Medical Center from March to December 2023 underwent a one stage universal newborn hearing screening protocol. Excluded from the study were patients who were admitted for less than 48 hours, without consent from their parents or guardians and babies who were not cleared medically to undergo testing, and those who presented with aural atresia and/or any physical anomaly of the head and the external ear.

Results:A total of 169 babies were initially seen with 16 babies lost to follow up resulting in a final total of 153 babies (or 306 ears) tested. The refer and false positive rates were 9.8% and 8.92%, respectively, on average comparable to or even better than the two-step protocol in most studies. Sensitivity was determined to be 100% while specificity was 91.08%. The incidence of hearing loss in the study population was 19.8/1000, consistent with various study outcomes for high risk newborns. There was no reported incidence of auditory neuropathy in this study. The primary risk factors that were present in babies with hearing loss were: low birth weight, prematurity, neonatal intensive care unit admission of more than 5 days and exposure to ototoxic medications.

Conclusion:The one-staged Automated Auditory Brainstem Response (AABR) is an effective and efficient newborn hearing screening protocol for high-risk newborns in the Neonatal Intensive Care Unit (NICU) setting and eventually, may be considered as an alternative hearing screening technique whenever available in this cohort. More studies about improving newborn hearing screening, cost-analysis, diagnostics and interventions of hearing loss should be pursued in implementation of the Universal Hearing Screening Law in the Philippines.

We describe an unusual case of hypoxic ischemic encephalopathy in a preterm female of 36 weeks who presented with status epilepticus and atypical abdominal myoclonus. The seizures were confirmed electrographically using video electroencephalography (EEG), while the abdominal myoclonus was demonstrated to be nonepileptic, as it had no EEG correlate. Other possible causes of neonatal seizures were excluded. The infant then responded to a gamut of antiseizure medications but the myoclonus persisted. To the best of our knowledge, this is the first report of atypical myoclonus in a preterm baby caused by hypoxic ischemic encephalopathy.

INTRODUCTION: Paediatric patients admitted to the inpatient units from the emergency department (ED) are increasing, but the mean length of stay has fallen significantly. We aimed to determine the reasons behind paediatric one-day admissions in Singapore and to assess their necessity. METHODS: A retrospective study involving paediatric patients who were admitted from a general ED of an adult tertiary hospital to a paediatric tertiary hospital between 1 August 2018 and 30 April 2020. One-day admission was defined as an inpatient stay of less than 24 h from the time of admission to discharge. An unnecessary admission was defined as one with no diagnostic test ordered, intravenous medication administered, therapeutic procedure performed or specialty review made in the inpatient unit. Data were captured in a standardised form and analysed. RESULTS: There were 13,944 paediatric attendances - 1,160 (8.3%) paediatric patients were admitted. Among these, 481 (41.4%) were one-day admissions. Upper respiratory tract infection (62, 12.9%), gastroenteritis (60, 12.5%) and head injury (52, 10.8%) were the three most common conditions. The three most common reasons for ED admissions were inpatient treatment (203, 42.2%), inpatient monitoring (185, 38.5%) and inpatient diagnostic investigations (32, 12.3%). Ninety-six (20.0%) one-day admissions were unnecessary. CONCLUSION Paediatric one-day admissions present an opportunity to develop and implement interventions targeted at the healthcare system, the ED, the paediatric patient and their caregiver, in order to safely slow down and perhaps reverse the trend of increased hospital admissions.
Humans ; Retrospective Studies ; Singapore ; Child ; Emergency Service, Hospital/statistics & numerical data* ; Patient Admission/statistics & numerical data* ; Female ; Male ; Child, Preschool ; Length of Stay/statistics & numerical data* ; Infant ; Adolescent ; Tertiary Care Centers ; Hospitalization/statistics & numerical data* ; Infant, Newborn ; Gastroenteritis/therapy* ; Respiratory Tract Infections

INTRODUCTION: Preterm birth (PTB) remains a leading cause of perinatal morbidity and mortality worldwide. Understanding Singapore's PTB trends and associated risk factors can inform effective strategies for screening and intervention. This study analyses PTB trends in Singapore from 2017 to 2023, identifies risk factors in this multi-ethnic population and evaluates a predictive model for PTB. METHOD: A retrospective analysis of all PTBs between 22+0 and 36+6 weeks of gestation, from 1 January 2017 to 31 December 2023, was performed by extracting maternal and neonatal data from electronic medical records. These PTBs were taken from the registry of births for Singapore and SingHealth cluster data. Cochran- Armitage trend test and multinomial logistic regression were used. An extreme gradient boosting (XGBoost) model was developed to test and predict the risk of PTB. RESULTS: The PTB rate in Singapore did not show a significant change. However, there was modest downward trend in the SingHealth population from 11.3% to 10.2%, mainly in late spontaneous PTBs (sPTBs). sPTBs accounted for ∼60% of PTBs. Risk factors for very/extreme sPTB included Chinese ethnicity, age ≥35 years, body mass index (BMI) ≥23 kg/m², being unmarried, primiparity, twin pregnancy and maternal blood group AB. The XGBoost model achieved an area under the receiver operating characteristic curve of 0.75, indicating moderate ability to predict PTB. CONCLUSION The overall PTB rate in Singapore has not improved. This study underscores the importance of local factors, particularly advanced maternal age, BMI, primiparity, unmarried, Chinese ethnicity and maternal blood group AB influencing PTB risk. Artificial intelligence methods show promise in improving PTB risk stratification, ultimately supporting personalised care and intervention.
Humans ; Singapore/epidemiology* ; Retrospective Studies ; Female ; Risk Factors ; Premature Birth/ethnology* ; Pregnancy ; Adult ; Infant, Newborn ; Asian People/statistics & numerical data* ; Gestational Age ; Body Mass Index ; Maternal Age ; Logistic Models ; Ethnicity