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

OBJECTIVE

To determine the prevalence of rectal colonization with carbapenem-resistant organisms (CRO) among PGH neonatal intensive care unit (NICU) patients.

A prospective single-center observational study conducted over a 1-month period included all NICU 3 and cohort area patients admitted on April 24, 2024. Rectal swabs were collected for multidrug-resistant organism (MDRO) screening and repeated weekly for 1 month while admitted. Swabs were inoculated on chromogenic media, and isolates were identified and tested for antimicrobial sensitivity by disk diffusion. Clinical characteristics and outcomes were collected for 30 days from initial MDRO screening. Descriptive statistics were used to summarize the data.

The point prevalence of CRO colonization was 37% (14 of 38) at initial screening. There were 14 incident colonizations, hence the 4-week period prevalence of CRO colonization was 72.5% (29 of 40). The patients were mostly very preterm, very low birth weight neonates, majority were tested within the first 2 weeks of life, and half were exposed to meropenem at initial screening. Nosocomial infection developed in 29% and 64%, and 30-day mortality rate was 8% and 21% among initially non-CRO-colonized and CRO-colonized patients respectively. Despite high CRO colonization, no culture-proven CRO infection was observed. Surveillance screening documented persistent CRO colonization in 37%, but no decolonization. Escherichia coli, Klebsiella spp. and Serratia spp. were the most common colonizers.

The high prevalence of rectal CRO colonization in the NICU emphasizes the burden of antimicrobial resistance, but despite the high CRO colonization, no CRO infection was documented from the limited sample and study period.

BACKGROUND

The use of ceftazidime-avibactam (CAZ-AVI) has been recently introduced to combat multidrug-resistant organisms (MDROs) in the pediatric population. Case reports have documented the successful off-label use of CAZ-AVI in the treatment of MDRO sepsis in neonates; however, data remains to be limited, especially in the Philippines.

This study aims to explore the effects of CAZ-AVI on clinical outcomes including mortality rate, length of hospital stay since treatment initiation, and bacteriological eradication among patients admitted at the NICU with MDR Klebsiella hospital-acquired sepsis. Other objectives include comparing these outcomes betwee those who received CAZ-AVI (in combination with aztreonam, ATM) and those who received other 2nd line MDR-antibiotic regimens used for carbapenem-resistant Klebsiella growths, as well as exploring the association of factors such as gestational age and age at sepsis diagnosis of patients with their outcomes post-treatment with CAZ-AVI± ATM.

This is a retrospective cohort study of admitted patients in a neonatal intensive care unit of a tertiary hospital with MDR Klebsiella hospital-acquired sepsis across a two-year period. A review of medical records was done, and data were collected and analyzed.

There were a total 11 patients treated with CAZ-AVI ± ATM compared with 11 patients given other 2nd line antibiotic treatment regimens. The use of CAZ-AVI ± ATM exhibited a trend towards a decreased mortality rate (54.5%, p = 0.17), shorter length of hospital stays from treatment initiation (30.7 days, p = 0.50), and increased bacteriological eradication rates (63.6%, p < 0.05), compared with other 2nd line antibiotic treatment regimens, regardless of gestational age and age at sepsis diagnosis.

The use of CAZ-AVI ± ATM showed a more favorable trend compared with other 2nd line antimicrobials for with MDR Klebsiella hospital-acquired sepsis. These observations, however, require further confirmation with a prospective study, a longer study period, and an increase in sample size.

Human ; Infant, Newborn ; Mass Screening ; Neonatal Screening ; Censuses

Infant, Newborn ; Mass Screening ; Neonatal Screening

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

BACKGROUND: Hospitalization in neonatal intensive care units (NICU) exposes preterm infants to adverse stimuli, including continuous 24-hour lighting. There is currently no standardized NICU layout advised for the best development of preterm neonates. This meta-analysis aimed to assess the impact of cycled light (CL) exposure on clinical outcomes in premature infants admitted to NICU as synthesized in previous studies. MATERIALS AND METHODS: This meta-analysis protocol was developed following the preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) statement. A search was performed in PubMed/MEDLINE, EMBASE, Scopus, and Cochrane databases using the MeSH/key words: ―light exposure‖ AND pre-term AND cycled AND (RCT OR trials OR ―randomized controlled trial). The pooled Mean Difference with corresponding 95% CI was computed for weight gain, duration until start of enteral feeding, and duration of ICU stay using the Mantel–Haenszel random-effect model. RESULTS: Nine studies were included. The pooled mean difference showed that among preterm infants who had cycled light exposure, average daily weight gain (MD=6.24 grams, 95%CI=1.36 to 11.13, p=0.01) was significantly higher than those with continuous light exposure. The average time to start enteral feeding (MD=-3.84 days, 95%CI=-7.56 to -0.13, p=0.04) and average ICU stay (MD=-8.43 days, 95%CI=-12.54 to -4.31, p<0.0001) among neonates who had cycled light exposure were significantly shorter. CONCLUSION Benefits were seen in preterm infants when exposed to cycled light as opposed to continuous light. CL exposed infants showed a daily weight gain that was 6.24 grams higher, on average, and began enteral feeding nearly 4 days sooner. It led to a decrease in the duration of ICU stay by around 8 to 9 days on average. Further trials to determine the impact of cycled light exposure on morbidity and mortality among preterm neonates is recommended.
Human ; Male,Female ; Systematic review ; Meta-analysis ; Infant, Premature ; Intensive care units, Neonatal ; Intensive care, Neonatal ; Light ; Lighting ; Critical care