Search Results (298)

Universal newborn hearing screening is essential for early identification of sensorineural hearing loss. Infants born to adolescent mothers may be more vulnerable to abnormal screening outcomes due to biological, socio-economic, and obstetrical risk factors frequently associated with adolescent pregnancy. This study evaluates hearing screening outcomes in newborns of adolescent mothers and examines whether maternal and neonatal vulnerabilities contribute to abnormal (REFER) results. A retrospective observational study was conducted over four years (January 2021–January 2025) at the “Sf. Ap. Andrei” County Emergency Clinical Hospital, Galați, Romania. The study included 187 newborns of adolescent mothers (≤18 years) and 3203 newborns of mothers aged >19 years. All infants underwent transient evoked otoacoustic emission (TEOAE) testing within 48–72 h after birth, according to institutional protocol. PASS/REFER outcomes were recorded, and retesting was performed when indicated. Although otological conditions such as middle ear dysfunction may influence OAE responses, routine otoscopic examination and clinical assessment were performed prior to testing. Automated auditory brainstem response (AABR) testing was not routinely applied due to equipment availability and local screening practices. The final REFER rate was slightly higher in the adolescent group (5.3%) compared with the adult group (4.8%). Maternal age alone was not directly associated with abnormal outcomes; however, maternal anemia, limited prenatal care, rural residence, prematurity, and low birth weight were more frequently observed among cases with persistent REFER results. Infants born to adolescent mothers show a modestly increased likelihood of abnormal hearing screening outcomes, primarily related to cumulative maternal and neonatal vulnerabilities. Strengthening prenatal care and targeted audiological follow-up may improve early detection of sensorineural hearing loss in this population. Full article

In recent years, the development of new diagnostic technologies, such as tandem mass spectrometry (MS/MS) and next-generation sequencing (NGS), has caused a veritable revolution in the diagnosis of genetic diseases, reducing time, cost, and invasiveness associated with prior diagnostic techniques. While MS/MS laid the foundation for the development of numerous, usually institutionally based, neonatal screening programs, NGS has gained traction in newborn screening (NBS), primarily through pilot projects and private funding across different countries. As a result, the traditional Wilson and Jungner criteria have been supplemented by additional criteria, including considerations of equity and access, in response to emerging technologies. This review aims to provide an up-to-date overview of the global landscape of metabolic screening panels, highlight the major ongoing genomic screening projects, and outline the current models for integrating these two screening systems. Substantial differences exist across countries in the numbers and types of diseases included in national NBS programmes. In this context, Italy represents a prominent case, as its neonatal screening framework has seen significant expansion and development in recent years, reaching a particularly comprehensive metabolic screening panel. Nonetheless, a number of initiatives to incorporate genomic technologies into the NBS pathway are currently underway, primarily involving high-income countries. Nonetheless, unlike metabolomic-based NBS programs, no country has a government-mandated NGS program as first-tier testing for newborns. New evidence is emerging from ongoing models of integration of multi-omics approaches into NBS, including the use of AI and machine learning. Identifying the most appropriate system for this integration to reduce the false-positive and false-negative rates associated with both screening types, ensure more equitable access to screening, and facilitate faster access to treatment may represent a useful and foresightful way to conceptualize NBS in the future. This transitional phase should promote rigorous improvements before full-scale adoption. Full article

Background: Feto-maternal hemorrhages (FMHs) due to placenta disruption and bleeding from fetal maternal circulation can lead to life-threatening fetal anemia. These hemorrhages are more often of small volume and remain unreported. Sensitization to fetal red blood cell (RBC) antigens can occur during pregnancy, at delivery, or after invasive procedures. The sensitized mother produces IgG antibodies (abs) that cross the placenta and cause the hemolysis of fetal RBCs, release of hemoglobin, and increased levels of unconjugated bilirubin in the fetus or neonate. The result is hemolytic disease of the fetus and newborn (HDFN). Methods: In this study, we aim to provide a structured overview of RBC alloimmunization in pregnancy. A literature search was conducted using PubMed. English articles published from January 2010 to October 2025 were selected by the authors. The contributing manuscripts focused on managing RBC alloimmunization in pregnancy, FMH screening and quantification, antenatal and postnatal testing, Rh immune globulin (Rh Ig or Anti-D) prophylaxis, and national registry data. Results: Frequencies of RBC abs vary among American, Caucasian, and Asian populations because of genetic diversity, different antibody detection and antibody identification methods, and FMH tests. More specifically, the erythrocyte rosette is a simple screening test for FMH. A positive rosette must be quantified by the Kleihauer–Betke (KB) or flow cytometry (FC). The KB results may be overestimated or underestimated. The advantages of FC include high accuracy, specificity, and repeatability. Ultimately, anti-D prophylaxis protocol varies from country to country. Conclusion: Maternal alloimmunization is an uncommon and highly variable event. Although introducing anti-D prophylaxis has decreased the Rh immunization rate, it is still an unmet medical need. In brief, mitigation strategies for RBC alloimmunization risk include accurate maternal and neonatal testing at different time points, adequate Rh immune globulin prophylaxis in D-negative pregnant women, preventing sensitizing events, adopting a conservative transfusion policy, and upfront ABO and Rh (C/c, E/e) and Kell matching in females under 50 years of age. Full article

The aim of the evaluation was to gather information on parents’ experiences and attitudes towards the Irish National Newborn Bloodspot Screening Programme (NNBSP). An interviewer-administered survey was completed by 151 parents whose babies underwent newborn bloodspot screening (NBS) between 2023 and 2025 and for whom the screening result was normal. Results suggest that NBS is highly acceptable to parents, with 100% glad their baby underwent screening. The majority (95%) felt they were provided the information needed to understand the importance of NBS for their baby, and 93% are in favour of screening for more conditions. Positive aspects of NBS reported by parents included the following: blood sampling being undertaken in the home, the sample-taker being very nice and being advised in advance to keep the baby’s heel warm to ease the sampling process. Negative aspects of NBS reported included the following: having to return to the hospital for sampling, the baby becoming distressed, not receiving adequate information and not receiving the screening results. Parents were more likely to report negative experiences if the sample was not taken at home and if the sample was taken by a healthcare professional other than a public health nurse. Parents offered recommendations for improvements to the programme. This study provides important insights into parents’ experiences and attitudes towards NBS in Ireland. Full article

Congenital cytomegalovirus infection is an underrecognized congenital infection. Globally, it impacts approximately 1 of every 200 live births. Although infected infants can have an increased risk of long-term sequelae, such as neurodevelopmental impairments and sensorineural hearing loss, most of the infected infants do not show visible signs at birth. As congenital cytomegalovirus infection often goes undetected and screening programs are not widely accepted, awareness of congenital cytomegalovirus in neonates is lacking. The aim of this study is to offer the current status of the epidemiology, clinical manifestations, and laboratory testing for the diagnosis of congenital cytomegalovirus infection and newborn screening approaches. Full article

Group B Streptococcus (GBS) is a component of the natural human microbiota, colonizing the genitourinary tract and the distal gastrointestinal tract. Due to its production of numerous virulence factors, GBS can cause infections in pregnant women, newborns, and immunocompromised individuals. In newborns, GBS infection may present as severe pneumonia, meningitis, or sepsis. Screening for maternal GBS colonization, combined with intrapartum antibiotic prophylaxis for colonized women, is currently regarded as the most effective strategy for preventing neonatal GBS infections. However, growing concerns regarding antibiotic resistance and the negative impact of antibiotics on the neonatal microbiome have intensified the search for alternative approaches. These include the development of a vaccine and methods to reduce vaginal colonization in pregnant women. Full article

Background and Objectives: Pemphigus vulgaris (PV) is a rare autoimmune blistering disease caused by IgG au-toantibodies against desmoglein 1 and/or desmoglein 3, leading to flaccid blisters on the skin and mucous membranes. The course of PV during pregnancy represents a special clinical challenge due to immunological changes accompanying physiological immunosuppression and the need to protect the developing fetus. Materials and Methods: To analyze the current state of knowledge, a literature review was performed covering the years 2015–2025. Publications describing PV diagnosed during pregnancy or in neonates were screened, and nine case reports discussing ten patients meeting the inclusion criteria were selected for detailed analysis. In this study, we also present our own clinical case of PV in pregnancy to complement the literature review and provide practical insight into disease management. Results: In most cases, the disease was diagnosed in the first trimester of pregnancy, and the most common symptoms were flaccid blisters and erosions of the oral mucosa. The diagnosis was confirmed by direct immunofluorescence (DIF) and ELISA testing. The first-line treatment remained systemic glucocorticosteroids (GCS), mainly prednisolone, which is considered the safest. In resistant cases, intravenous immunoglobulins (IVIg) were used, which were considered effective and safe, though their use may limit the transplacental transfer of autoantibodies to the fetus. In newborns, the symptoms rarely occurred, were mild, and resolved spontaneously. Drugs with proven teratogenic effects, such as methotrexate, cyclophosphamide, and mycophenolate mofetil, are contraindicated during pregnancy. In the case of rituximab therapy, it is recommended to postpone pregnancy for at least 12 months after the completion of treatment to minimize the potential risk of immunosuppression in the newborn. Conclusions: The treatment of PV during pregnancy requires close interdisciplinary cooperation. Therapy should be carefully individualized, taking into account both therapeutic efficacy and fetal safety. Perhaps then, pregnancy-related pemphigus diseases, given their peculiarities, should be classified as a distinct variety within the desmosomal type of autoimmune blistering diseases. Full article

This study was designed to assess the effectiveness of neonatal congenital adrenal hyperplasia (CAH) screening in Guangzhou, China. A total of 818,417 newborns were screened for CAH by measuring 17-hydroxyprogesterone (17-OHP) concentrations. Cut-off values were stratified based on gestational age (GA) and the timing of sample collection. Neonates with initial positive results (17-OHP ≥ cut-off value) were recalled for a second dried blood spot sample to reassess 17-OHP levels. Confirmatory testing involved biochemical analyses, Sanger sequencing, and multiplex ligation-dependent probe amplification of the CYP21A2 gene. From 2018 to 2024, a total of 40 patients with classical 21-hydroxylase deficiency were identified, including 28 cases (70%) of the salt-wasting form and 12 cases (30%) of the simple virilizing form. The overall incidence of CAH was 1 in 20,653 (95% confidence interval: 1:34,928, 1:14,661). No statistically significant differences in prevalence were observed between sexes or between preterm and full-term infants (p > 0.05). 17-OHP concentrations are influenced by GA and the timing of sample collection. The screening efficiency for CAH could be improved by adopting a multitiered cut-off value system adjusted for GA and collection time. Full article

Background: Developmental dysplasia of the hip (DDH) encompasses a spectrum of neonatal hip abnormalities that, if not detected and treated early, may lead to long-term orthopedic sequelae. Universal ultrasound screening using Graf’s method has been proposed to improve early diagnosis, though its implementation remains heterogeneous in Italy. Objectives: This study aimed to describe the outcomes of a universal ultrasound screening program for DDH conducted in a first-level birth center in northern Italy, evaluating DDH incidence, risk factors, management outcomes, and program feasibility. Methods: A prospective observational study was conducted from February 2024 to October 2025 at the Ivrea birth center (Piedmont region, Italy). All consecutive live-born infants (n = 904) underwent hip ultrasound according to Graf’s method, between 0 and 11 weeks of age. Hips were classified as type I (normal), type IIa (physiologically immature), or type IIb–IV (pathological). Infants with type IIa hips were re-evaluated after 2–4 weeks; those with type IIb or worse were referred to pediatric orthopedics. Results: Of 1808 hips examined, 92% were Graf type I and 8% type IIa. After follow-up, 93% of type IIa hips matured spontaneously. Pathological DDH (Graf IIb or worse) was diagnosed in 8 infants (0.88%), of whom 75% were female; 50% had no identifiable risk factors. All affected infants were treated with harness before 12 weeks of age, with complete recovery and no late diagnoses. No infant required surgical treatment. Conclusions: Universal ultrasound screening for DDH was feasible and effective in a first-level birth center, ensuring early diagnosis and absence of late-presenting cases. These findings support universal screening as a safe and equitable approach to reduce DDH-related morbidity and align with national recommendations for standardized early detection programs. Full article

Gestational diabetes mellitus (GDM) and macrosomia are crucial for improving maternal and neonatal outcomes. Molecular dysregulations can manifest long before clinical symptoms appear. This study aimed to leverage first-trimester serum lipidomic signatures to build early predictive models for these complications. A case–control study was conducted using serum samples from 119 women during first-trimester screening: 40 cases and 79 controls for GDM prediction and 45 cases and 74 controls for macrosomia prediction (newborn weight more than 90 percentile). Lipidomic profiling was performed using shotgun mass spectrometry in both positive and negative electrospray ionization modes. After feature selection based on Shapley values, machine learning models—including Random Forest and XGBoost—were constructed and evaluated via 10-fold cross-validation. For GDM, potential early biomarkers included elevated levels of triacylglycerol (TG) 55:7 and decreased levels of 13-Docosenamide, plasmenyl-phosphatidylcholine (PC P)-36:2, and phosphatidylcholine (PC) 42:7. For macrosomia, phosphatidylglycerol (PG) (i-, a- 29:0), 4-Hydroxybutyric acid, and Pantothenol were significantly altered. The model for GDM prediction achieved a sensitivity of 87% and specificity of 89%. For macrosomia, the model demonstrated a sensitivity of 87% and specificity of 93%. The Random Forest and XGBoost models demonstrated comparable performance metrics on average. The risk ratio between the high- and low-risk groups defined by the models was 11.9 for GDM and 11.1 for macrosomia. Our findings demonstrate that first-trimester serum lipidomic profiles, combined with clinical data and interpreted by advanced machine learning, can accurately identify patients at high risk for GDM and macrosomia. This integrated approach holds significant promise for developing a clinical tool for timely intervention and personalized pregnancy management. Full article

Background/Objectives: Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes. However, its metabolic consequences on newborns remain inadequately characterized. This study investigated amino acid, carnitine, and acylcarnitine profiles in neonates born to mothers with ICP. Methods: This retrospective study encompassed 299 neonates born to mothers with ICP. For comparative analysis, term infants without additional complications (ICP-term, n = 150) were compared with term controls (n = 150). Capillary blood samples collected at 24–48 h of life as part of newborn screening were analyzed using LC–MS/MS for acylcarnitine and amino acid profiles. Results: The ICP cohort exhibited a high preterm delivery rate (46.2%), with maternal bile acids negatively correlating with gestational age (r = −0.266, p < 0.001). No inborn errors of metabolism were observed. Elevated levels of amino acids (alanine, leucine/isoleucine, valine, tyrosine, arginine, glycine, and ornithine) and specific acylcarnitines (C5, C5-OH, C10:1, and C18:2), along with decreased levels of amino acids (argininosuccinic acid and glutamic acid) and specific acylcarnitines (C3, C5-DC, C6-DC, C14, C14:1, C16, C16:1, and C18:1-OH), were observed in ICP-term neonates (p < 0.05). Receiver operating characteristic curve analysis identified ornithine (area under the curve [AUC] = 0.74) and leucine/isoleucine (AUC = 0.73) as strong discriminators. A multivariable model integrating multiple metabolites achieved high accuracy (AUC = 0.86 ± 0.03). Conclusions: This first comprehensive characterization of neonatal metabolic alterations in ICP reveals amino acid metabolism, fatty acid oxidation, and mitochondrial function disruptions, suggesting fetal adaptation to a cholestatic intrauterine environment. Metabolomic profiling may improve understanding of maternal–fetal interactions and inform strategies for risk stratification and long-term monitoring. Full article

Background: Pertussis is a respiratory infection that represents a significant threat worldwide, especially for infants. The global incidence of pertussis is on the rise, with 20–40 million cases occurring every year. Maternal vaccination offers protection to newborns and, therefore, is recommended by numerous healthcare organizations. The aim of this study was to systematically assess the level of knowledge regarding pertussis and the pertussis vaccine, as well as the willingness to receive the vaccine among pregnant women, and identify the most significant reasons for vaccine hesitancy among the obstetric population. Methods: A systematic literature search was conducted in the Web of Science, Embase, and Scopus databases between 1 April 2024, and 31 July 2024. Our search strategy aimed to identify studies published from 1 January 2014 to July 2024 in order to capture a decade’s worth of the most recent evidence and updates in maternal pertussis vaccination. Results: We screened 955 articles altogether, with 11 studies included in the analysis. The general awareness of pertussis infection prior to participation in the study varied from 5% in a study performed in Turkey to 95.9% in the Norwegian population. Moreover, the willingness to receive the vaccine ranged from 11.2% in the Turkish population to 94.8% in the Netherlands. Several statistically important factors affecting the decision have been identified, such as belief in safety and effectiveness, fear of adverse reactions, or healthcare professional recommendation. Conclusions: The general awareness regarding pertussis vaccine in pregnant women differs significantly depending on the population studied. However, it remains unsatisfactory even in populations with a high declared level of knowledge if asked specific questions. Presented results may indicate the need for studies on the efficacy of educational interventions for raising awareness about the meaning of pertussis immunization during pregnancy and preventing infection among neonates. Full article

Background: Women from Roma communities face considerable health inequalities, primarily due to limited access to healthcare systems, alongside broader social and structural disadvantages. Among Roma women these disparities are reflected in poorer perinatal outcomes when compared to non-Roma populations. This systematic review aims at: (a) exploring disparities in neonatal health outcomes between Roma and non-Roma populations in relation to maternal factors such as health status, lifestyle, and education; (b) summarizing key perinatal characteristics in these groups; (c) assessing the influence of prenatal care on neonatal outcomes. Comprehending these disparities is crucial for guiding effective interventions and promoting health equity. Methods: A systematic literature review was conducted in major databases, such as PubMed and Scopus, to identify studies published up to 2025. The eligible studies focused on observational research that compared perinatal outcomes, including preterm birth, low birth weight (LBW), stillbirth, and neonatal mortality, between Roma and non-Roma populations. The potential discrepancies between these populations are thoroughly discussed in the review. Results: A comprehensive search yielded a total of 157 studies. After meticulous screening, 48 relevant studies were identified, reporting substantial health disparities between Roma and non-Roma mothers and their newborns. Roma populations exhibited significantly increased rates of preterm birth, LBW, and neonatal mortality vs. non-Roma populations. Socioeconomic status, access to prenatal care, maternal education, and systemic discrimination were identified as the primary contributing factors to these disparities. Conclusions: The findings highlight the significant and enduring disparities in perinatal health between Roma and non-Roma populations. In order to effectively address these disparities, it is necessary to have a comprehensive and multi-level strategy that prioritizes the social determinants of health, ensures equitable access to high-quality maternal care, and mitigates actively systemic discrimination. Future research should prioritize the development and rigorous evaluation of targeted interventions to reduce these inequities and improve perinatal outcomes among Roma populations. Full article

Newborn immaturity transcends their bodies, immune systems, and communication and perception capabilities, making them vulnerable to the environment. Neonatal jaundice is a common condition, with higher levels of unconjugated bilirubin concentration having neurotoxic effects. Newborns are routinely monitored visually or non-invasively with transcutaneous bilirubinometry (TcB) due to their biological immaturity to conjugate bilirubin. Higher levels of bilirubin are a sign that there is either an unusual rate of red blood cells breaking down or that the liver is not able to eliminate bilirubin through bile into the gastrointestinal tract. Actual devices used in bilirubin screening are hand-held and do not allow operation outside the hospital. Based on these factors, a continuous bilirubin monitoring device for newborns was developed, which enables the evaluation of neonatal jaundice inside or outside the hospital. This non-invasive device operates through a mini-spectrometer in the visible range. It was calibrated with phantoms, and its operation was compared with a gold-standard bilirubinometer through in vitro experiments, exploring the practical range of bilirubin variation in newborns and presenting a clinically acceptable deviation of 1 mg/dL. These experiments showed that the continuous bilirubin monitoring device developed has the potential to be used for remote monitoring of jaundice in newborns. Full article

Following Newborn Screening (NBS), parents receiving positive results experience various psychosocial effects upon learning their child’s genetic information or unexpected findings. These factors warrant careful consideration. The Japanese Medical Association’s Guidelines for Genetic Testing and Diagnosis in Medical Care highlight the importance of genetic counseling (GC) in NBS; however, its current implementation status remains unclear. This study aimed to determine current approaches to GC following positive NBS results in Japan. A questionnaire was conducted with pediatric metabolic specialists responsible for treating individuals who screen positive through NBS results to evaluate GC implementation and their views on its provision. GC was provided at most referral centers for NBS (although not routinely at approximately half of the facilities). In over 70% of cases, GC was performed by a metabolic specialist, regardless of clinical geneticist certification. Furthermore, some metabolic specialists may be reluctant to provide GC due to limited understanding or time constraints. Raising awareness that all parents are eligible for GC, regardless of their child’s diagnosis or health status, is essential. In addition, a GC system incorporating multidisciplinary and multidepartmental collaboration is important for the multifaceted support of patients and families. Full article