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.

Introduction: Metabolic bone disease of prematurity (MBDP) is characterized by biochemical and radiological findings related to bone demineralization in premature babies. Despite early recognition, MBDP is still a prevalent problem and is associated with significant morbidities in premature babies. This study aims to determine the prevalence and neonatal predictors of MBDP. Methodology: This retrospective cross-sectional study involved premature babies with gestational age ≤32 weeks and birth weight ≤1.5 kg, admitted to Hospital Tunku Azizah, Kuala Lumpur, between January 1, 2020, and January 31, 2024. Babies whose serum phosphate was ≤1.5 mmol/L and serum alkaline phosphatase >500 IU/L at 3–6 weeks of age fulfilled the diagnosis of MBDP. The maternal and neonatal characteristics of the study population were retrieved from the medical records. Neonatal predictors for MBDP were analyzed by simple and multiple logistic regression. Results: A total of 292 subjects were enrolled. The prevalence of MBDP was 13.4%. On simple logistic regression, male gender, low gestational age, poor APGAR score, delayed enteral feed initiation, prolonged TPN, delayed vitamin D supplementation, use of unfortified expressed breast milk, patent ductus arteriosus, and bronchopulmonary dysplasia, cholestasis, prolonged hospital stay, and prolonged ventilation were risk factors for MBDP (p <0.05). On multiple logistic regression, only cholestasis (p 0.014), prolonged TPN use (p <0.001), and prolonged hospitalization (p <0.001) were independent neonatal predictors for MBDP. Conclusion The risk of MBDP can be reduced by shortening TPN duration and hospitalization duration and preventing cholestasis. This may be achieved by early enteral feeding initiation and use of fortified EBM, thus preventing the development of MBDP.
Infant, Newborn ; Prevalence ; Bone Diseases, Metabolic ; Hospitals

Introduction: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with dysregulation of genes on chromosome 11p15.5. Infants with BWS can present with hyperinsulinemic hypoglycemia. There are also distinctive clinical features including macrosomia, macroglossia and visceromegaly that may raise suspicion of this diagnosis. Case: A preterm female infant of 30 weeks gestation with a birth weight of 1.87 kg (97th centile) had recurrent hypoglycemia in the neonatal period, requiring escalation to a maximum glucose infusion rate of 17.6 mg/kg/min. Hypoglycemia only resolved after starting intravenous glucagon infusion. Critical sampling during hypoglycemia revealed serum insulin 3.9 µU/mL (3–25 µU/mL), serum ketone 0.2 mmol/L, cortisol 3,053 nmol/L and growth hormone 16.2 ng/mL. These findings supported the diagnosis of non-ketotic hyperinsulinemic hypoglycemia. She was commenced on oral diazoxide with resolution of hypoglycemia and discontinuation of glucagon. Examination at birth revealed macroglossia, hepatomegaly and ballotable kidneys. An initial US abdomen at birth revealed bilateral enlarged kidneys but normal liver. An initial chromosomal study revealed karyotype 46, XX. Over time, additional clinical features became evident fulfilling the diagnostic criteria for BWS, that is, polyhydramnios, large for gestational age, transient hypoglycemia, hyperinsulinism, macroglossia, hemihypertrophy, facial nevi, bilateral ear creases, hepatomegaly and ballotable kidney. A repeat US abdomen surveillance at 4 months old revealed a heterogeneous liver mass with marked vascularity, prompting a diagnosis of hepatic hemangioma. She was commenced on oral propranolol, with reduction in the size and vascularity of the liver hemangioma and decline in alpha-fetoprotein levels. Conclusion The clinical features of BWS may not be recognizable in a preterm baby in early neonatal period. Careful clinical examination should be done in a baby with persistent hyperinsulinemic hypoglycemia for underlying syndromal causes. US surveillance should also be carried out due to increased risk of hepatoblastoma or liver hemangioma in BWS, as was seen in this case.
Infant, Newborn ; Infant ; Beckwith-Wiedemann Syndrome ; Infant, Premature ; Hypoglycemia

Introduction: Hypernatremia in preterm babies is often due to insensible water loss, inadequate fluid intake or sodium imbalance due to immature kidneys. Congenital nephrogenic diabetes insipidus (CNDI) is an uncommon cause of hypernatremia in neonates and presents shortly after birth. Early recognition is important to prevent severe dehydration, electrolytes imbalance and neurological complications. Case: We report a case of a preterm 32-week female infant, with a birth weight of 1.14 kg with persistent hypernatremia (146– 156 mmol/L) from day 4 of life. She received total parenteral nutrition since birth and was started on breastmilk since day 5 of life. The baby was mildly dehydrated with weight loss and high urea (6.5 mmol/L) at day 7 of life. Total fluids were increased to 160 mL/kg/day but serum sodium remained elevated even though the urea had normalized. The infant was also noted to have high urine output (5–6 mL/kg/hour) since day 3 of life and suboptimal weight gain. Further evaluation at age 1 month revealed urine osmolality 71 mOsm/kg, serum osmolality 308 mOsm/kg and urine sodium <20 mmol/L when serum sodium was 150 mmol/L, suggestive of DI. A trial of desmopressin showed unchanged serum sodium (Na), suggesting nephrogenic DI. Administration of intravenous fluids of 1/5NSD10% resulted in further increase of both sodium (159 mmol/L) and serum osmolality (326 mOsm/kg) with low urine osmolality (111 mOsm/kg). Intravenous fluids were discontinued and she was started on hydrochlorothiazide (1 mg/kg/dose bd), resulting in gradual normalization of sodium 138 mmol/L. Post discharge, she had good weight gain and normal developmental milestones at corrected age of 1.5-month-old. Due to early onset hypernatremia, the infant was referred for genetic testing to rule out CNDI. Conclusion Early onset persistent hypernatremia and high urine output despite adequate fluid management should prompt evaluation of DI. Early diagnosis is crucial to prevent a chronic state of hypernatremia that can lead to growth and developmental delay.
Infant, Newborn ; Dehydration ; Hypernatremia

BACKGROUND

Bronchial asthma is one of the most common chronic childhood diseases encountered in the primary care setting. Adherence to recommendations from clinical practice guidelines on asthma can be utilized as an indicator of quality of care when evaluating the implementation of the universal health care in the Philippines.

To determine the clinical profile of pediatric patients with bronchial asthma; and to evaluate the prescription patterns for asthma treatment in a primary care setting.

This was a retrospective cohort study that involved review of the electronic medical records in a rural site of the Philippine Primary Care Studies (PPCS). All patients less than 19 years old who were diagnosed with asthma from April 2019 to March 2021 were included. Quality indicators for asthma care were based on adherence to recommendations from the 2019 Global Initiative for Asthma (GINA) Guidelines.

This study included 240 asthmatic children with mean age of 6 years (SD ± 4.9) and a slight male preponderance (55.4%). Majority (138 children or 57.5%) were less than 6 years old. Out of the 240 children, 224 (93.3%) were prescribed inhaled short-acting beta-agonists (SABA) and 66 (27.5%) were prescribed oral SABA. Only 14 children (5.8%) were prescribed inhaled corticosteroids (ICS), with 13 children (5.4%) given ICS with longacting beta-agonists (LABA) preparations, and one child (0.4%) given ICS alone. Quality indicators used in this study revealed underutilization of ICS treatment across all age groups, and an overuse of SABA-only treatment in children 6 years old and above. Moreover, 71.3% of the total patients were prescribed antibiotics despite the current GINA recommendation of prescribing antibiotics only for patients with strong evidence of lung infection, such as fever or radiographic evidence of pneumonia.

There were 240 children diagnosed with asthma over a 2-year period in a rural community, with a mean age of 6 years old and a slight male predominance. This quality-of-care study noted suboptimal adherence of rural health physicians to the treatment recommendations of the GINA guidelines, with overuse of SABA and underuse of ICS for asthma control.

BACKGROUND AND OBJECTIVES

The etiology of pneumonia in the pediatric population varies by age group. Among patients one month to 59 months old, viral pathogens are the most common cause of lower respiratory infections. The study aims to determine the frequency distribution of antibiotic prescription among patients one month to 59 months old and to determine the adherence of primary care facilities to local guidelines with recommended antibiotics.

A descriptive retrospective study using electronic medical records was conducted at two primary care sites. Patients aged 1 month to 59 months old seeking consult via telemedicine or face-to-face diagnosed with community acquired pneumonia from April 2019-March 2020 in the rural facility and May 2019-April 2020 in the remote facility were included in the study. The primary outcome was to determine the patterns of antibiotic use in pneumonia in remote and rural areas and adherence to the recommended antibiotics by the 2016 Philippine Academy of Pediatric Pulmonologists pediatric community-acquired pneumonia clinical practice guidelines (CPG).

There were 30 pediatric patients diagnosed with pneumonia in the rural facility and 213 in the remote facility. Of these patients with pneumonia, 96.7% and 94.8% were prescribed antibiotics in the rural and remote sites, respectively. The most commonly prescribed antibiotic in the rural facility was co-amoxiclav (26.7%), while amoxicillin (51.6%) was the most common in the remote facility. Adherence to the CPG in the rural site was lower at 23.3% (n=8/30) compared to the remote site which was 55.9% (n=119/213).

Primary care physicians prescribed antibiotics in over 90% of the time upon the diagnosis of pneumonia in children aged one month to 59 months old, despite viral pneumonia being the more common in primary care setting. Adherence to recommended antibiotics was higher in the remote setting than in the rural setting. Use of EMR to monitor quality of care can improve patient outcomes and safety, pointing out the importance of improving the quality of documentation in the study sites.