Search Results (98)

Background/Objective: In 2022, the American Academy of Pediatrics (AAP) revised the guidelines used to manage neonatal hyperbilirubinemia with a focus on reducing unnecessary testing and phototherapy. However, pediatricians’ knowledge and compliance with the current guidelines have not been assessed. We conducted a survey to evaluate New Jersey pediatricians’ current knowledge and practice patterns with the newly proposed guidelines. Patients and Methods: A questionnaire consisting of 28 closed-ended Likert-scale questions, along with demographic data, was distributed twice in 2024 to all members of the New Jersey AAP Chapter. Of 128 respondents, 120 who defined their involvement in the care of neonates with hyperbilirubinemia were analyzed. Results: The majority of survey respondents were general pediatricians (71.7%). Up to 70% recognized the risk factors for developing severe hyperbilirubinemia, except for Down Syndrome. Up to 60% of respondents utilized transcutaneous bilirubin in low-risk hyperbilirubinemia neonates and serum bilirubin after phototherapy initiation in high-risk neonates as recommended by the AAP. Almost all of the respondents followed the AAP recommended post-discharge follow-up and/or bilirubin measurement. The majority reported phototherapy initiation at the recommended thresholds; however, only 12.5% of surveyed pediatricians followed the recommended threshold for phototherapy discontinuation. Conclusions: Surveyed pediatricians in our study were most likely to comply with the 2022 AAP guidelines; however, opportunities remain for improving pediatricians’ awareness of specific risk factors, reducing unnecessary laboratory testing and discontinuation of phototherapy at the recommended level. Full article

Citrin deficiency (CD) is an autosomal recessive disorder and represents one of the urea cycle disorders. This study aims to analyze the detection rate, clinical features, and genetic mutation characteristics of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in the Hefei region of China. We conducted NICCD screening using tandem mass spectrometry (MS/MS) for infants born in Hefei City between January 2016 and December 2025. Screen-positive cases were subjected to genetic testing via next-generation sequencing (NGS), with subsequent validation by Sanger sequencing. Clinical manifestations, biochemical parameters, and genetic mutation profiles of confirmed cases were systematically analyzed. A total of 924,676 newborns underwent screening, identifying 17 cases of NICCD, yielding a detection rate of 1/54,393, with two false-negative cases identified. The most prevalent mutation site is c.852_855del (p.M285Pfs*2). Following diagnosis, health education, dietary guidance, and symptomatic treatment were administered, resulting in favorable outcomes in the majority of cases. However, one infant exhibited significant growth retardation despite early therapeutic intervention that normalized biochemical parameters. Furthermore, an infant was found to have gallstones at birth and subsequently diagnosed with a liver hemangioma at one year of age. Some patients may experience missed screenings due to delayed elevations in citrulline levels. Therefore, even for newborns with negative screening results, timely assessments of liver function, MS/MS, and genetic testing are recommended for infants experiencing prolonged jaundice. This approach enables early identification and intervention. The combination of MS/MS with genetic screening may serve as a reliable strategy to reduce false-negative results in NICCD screening. Full article

Background: Neonatal hyperbilirubinaemia (NHB) affects approximately 60% of term infants and is a recognised cause of bilirubin-induced neurologic dysfunction (BIND); however, its subclinical neurodevelopmental sequelae have not been well characterised at the level of specific developmental domains. Objectives: We aimed to use the Griffiths Developmental Scales–Chinese Edition (GDS-C) to characterise the domain-specific neurodevelopmental profile of term infants with NHB and to identify clinical risk factors for adverse outcomes. Methods: We conducted a single-centre, retrospective cohort study of 123 term newborns delivered between September 2019 and August 2023 at a tertiary hospital in Shanghai, China; 77 had NHB and 46 were healthy controls. Neurodevelopmental outcomes were assessed using the GDS-C at a median age of 46.9 months (interquartile range [IQR], 36.4–59.7) by a single certified examiner who was blinded to bilirubin status. A developmental quotient (DQ) below 85 (>1 SD below the standardised mean of 100) or at or below the 10th percentile was classified as below cutoff; otherwise, performance was classified as within the normal range. To account for testing across six domains, a Bonferroni-adjusted significance threshold of p < 0.0083 was applied. Results: Compared to the control group, the jaundice group had higher proportions of below-cutoff performance in the Locomotor (26.0% vs. 10.9%; p = 0.045), Personal–Social (28.6% vs. 10.9%; p = 0.022), Eye and Hand Coordination (29.9% vs. 10.9%; p = 0.015) and Performance (35.1% vs. 15.2%; p = 0.018) domains. Among infants with severe hyperbilirubinaemia (total serum bilirubin (TSB) ≥ 342 μmol/L; n = 19), the proportions of below-cutoff performance in the Locomotor (47.4% vs. 19.0%; p = 0.032), Personal–Social (57.9% vs. 19.0%; p = 0.003) and Performance (57.9% vs. 27.6%; p = 0.034) domains exceeded those in the non-severe subgroup. Jaundice lasting ≥ 14 days was associated with poorer personal–social outcomes (p = 0.007). In multivariable logistic regression, both a peak TSB ≥ 342 μmol/L (adjusted odds ratio [aOR], 5.59; 95% confidence interval [CI], 1.64–19.02; p = 0.006) and a jaundice duration ≥ 14 days (aOR, 5.68; 95% CI, 1.61–20.04; p = 0.007) were independently associated with below-cutoff personal–social performance. Conclusions: Among term infants, NHB was associated with an increased risk of below-cutoff performance across several GDS-C domains, particularly those reflecting gross motor, personal–social and visual-spatial functions. Severe hyperbilirubinaemia and prolonged jaundice were independent risk factors. The GDS-C may serve as a sensitive, domain-specific instrument for the early identification of infants at risk of adverse neurodevelopmental outcomes. Full article

Background and Clinical Significance: Biliary atresia (BA) and Alagille syndrome (ALGS) represent distinct anatomic and genetic causes of neonatal cholestasis. Their overlapping clinical, biochemical, and early histological features present a formidable diagnostic challenge in early infancy, and their simultaneous coexistence is exceedingly rare. This report documents a unique case of dual diagnosis to highlight the associated diagnostic pitfalls and implications for surgical management. Case Presentation: We present the case of a Taiwanese male neonate who manifested prolonged jaundice and acholic stools. Preoperative imaging and intraoperative cholangiography confirmed biliary atresia, for which the patient underwent a Kasai portoenterostomy. The patient subsequently exhibited an atypical postoperative course characterized by persistent hyperbilirubinemia and intractable pruritus. This atypical trajectory prompted an extensive, multisystem evaluation and molecular genetic analysis, revealing a concurrent genetic diagnosis of Alagille syndrome. To our knowledge, this dual diagnosis is rarely reported in the literature, which creates a significant challenge in determining surgical candidacy and predicting long-term liver health outcomes. Discussions: Early differentiation is complicated by the fact that some ALGS patients can initially mimic BA. Beyond its exceptional rarity, this case holds profound clinical significance for the evaluation of neonatal cholestasis, serving as a stark reminder of the risks of “diagnostic premature closure.” In diagnostically challenging cases of neonatal cholestasis, intraoperative biliary exploration remains the gold standard for the timely diagnosis of BA. Genetic testing should be considered an adjunctive tool when clinical and histological findings are inconclusive. Conclusions: This case highlights a critical clinical caveat in neonatal cholestasis: while a confirmed diagnosis of anatomical BA typically stands alone as a solitary pathology, clinicians should remain mindful of the remote possibility of a concurrent genetic etiology like ALGS in highly atypical presentations. Persistently unexpected postoperative jaundice or the accumulation of multisystem anomalies should prompt an expansion of the differential diagnosis. Recognizing this rare coexistence is crucial for effective multidisciplinary management, informed surgical decision-making, and accurate genetic counseling. Full article

Objectives: Neonatal hyperbilirubinemia is a common disease in the neonatal period. In this meta-analysis, we aim to evaluate the efficacy of adjuvant drugs combined with phototherapy in the treatment of neonatal hyperbilirubinemia. Methods: Randomized controlled trials (RCTs) published before September 2025 were searched from PubMed, Embase, Web of Science, and the Cochrane Library. A Bayesian random-effects network meta-analysis was performed to calculate mean differences and 95% confidence intervals. Interventions were ranked using the surface under the cumulative ranking curve (SUCRA) and probability of being the best treatment (PbBT). Results: Thirty-five RCTs involving 4060 neonates were included. Compared with phototherapy alone, clofibrate, ursodeoxycholic acid, fenofibrate, and calcium phosphate significantly reduced bilirubin levels and shortened admission duration. Clofibrate showed the greatest efficacy in bilirubin reduction within 48 h (SUCRA = 0.91, PbBT = 60.9%) and in shortening hospitalization (SUCRA = 0.84, PbBT = 40.83%). Probiotics, zinc, and agar exhibited relatively modest effects, while phenobarbital showed no significant benefit. Conclusions: Adjunctive therapies were associated with greater reductions in bilirubin levels compared with phototherapy alone. Future high-quality RCTs are needed to confirm the long-term efficacy and safety of these adjuvant therapies. Full article

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is among the most common inherited enzymatic disorders worldwide and is an important risk factor for neonatal hyperbilirubinemia. Regional data from Western Saudi Arabia based on universal newborn screening remain limited. Objectives: To determine the prevalence of G6PD deficiency among newborns delivered at a tertiary center in Jeddah, Saudi Arabia, and to evaluate its association with clinically relevant outcomes, including early-onset jaundice (<24 h), need for phototherapy, admission for hyperbilirubinemia management, and readmission after discharge. Methods: We conducted a retrospective cohort study at King Abdulaziz Medical City, Western Region, Jeddah, Saudi Arabia, between January 2020 and May 2025. Cord blood samples from live-born infants were screened using a qualitative fluorescent spot test. Demographic variables (sex, gestational age, birth weight) and jaundice-related outcomes were extracted from the electronic medical record. Categorical variables were compared using chi-square testing, with p < 0.05 considered statistically significant. Results: Among 14,964 screened newborns, 489 were identified as G6PD deficient, yielding a prevalence of 3.3%. Prevalence was higher in males than in females (5.6% vs. 0.9%). Among the G6PD-deficient infants, early-onset jaundice occurred in 17.2%, phototherapy was required in 36.0%, and 16.5% were admitted for hyperbilirubinemia management. Readmission for worsening jaundice requiring phototherapy occurred in 11.0%, and no exchange transfusions were required. Compared with term infants, late preterm infants had higher rates of early-onset jaundice (11/49, 22.4% vs. 73/440, 16.6%) and phototherapy use (22/49, 45.0% vs. 154/440, 35.0%) (p < 0.01). Conclusions: G6PD deficiency was identified in a substantial proportion of newborns in this large screened cohort and was associated with clinically significant jaundice-related outcomes, particularly among late preterm infants. These findings underscore the importance of universal screening and structured postnatal follow-up to reduce the risk of severe hyperbilirubinemia and its complications. Early identification of G6PD-deficient infants should be accompanied by careful bilirubin monitoring, clear discharge planning, and timely post-discharge follow-up, especially for those born late preterm. Full article

Pediatric (neonatal and infantile) jaundice resulting from underlying cholestasis (caused by conjugated hyperbilirubinemia) is always pathological and requires prompt evaluation. Pediatric cholestasis can be caused by medical or surgical factors and, if left untreated, can lead to irreversible liver damage. Timely recognition of pediatric cholestasis and identification of the underlying etiology are paramount to improve outcomes. The broad spectrum of causes potentially underlying pediatric cholestasis requires a multidisciplinary diagnostic approach, and each aspect must be interpreted in the concomitant clinical picture. A liver biopsy is one component of a complex diagnostic puzzle. However, interpreting a liver biopsy performed on a newborn/infant with conjugated/direct hyperbilirubinemia can be a challenging task, as these biopsies are rarely encountered in general hospitals. The aim of this review is to provide a practical and simplified approach to pediatric cholestasis with examples of real clinical cases we have encountered and discuss key features, both histological and clinical, that can help narrow the differential diagnosis and identify treatable causes. Full article

Background: Neonatal jaundice is a common condition with potentially severe complications such as bilirubin-induced neurological dysfunction and kernicterus. While serum bilirubin (SBR) remains the standard laboratory measurement, point-of-care methods, such as transcutaneous bilirubinometry (TcB) and blood gas analysers (BGAs), offer rapid, less invasive alternatives. Direct comparisons of their diagnostic accuracy remain limited. Objective: The aim of this study was to assess and compare diagnostic accuracy and clinical utility of TcB and BGA against SBR in neonatal hyperbilirubinaemia screening. Methods: This retrospective study included neonates (n = 221) with concurrent SBR, BGA, and TcB measurements (n = 333). Assessment was via Passing–Bablok regression, Bland–Altman analysis, and Spearman correlation. Diagnostic performance was evaluated against jaundice thresholds in phototherapy charts (≥95th percentile threshold). Subgroup analyses considered phototherapy status, haemoglobin concentration, and Fitzpatrick skin type. Results: BGA showed stronger agreement with SBR (R² = 0.88) than TcB (R² = 0.43). BGA remained accurate regardless of phototherapy or haemoglobin levels. TcB accuracy declined post-phototherapy with reduced predictive value in darker-skinned neonates (Fitzpatrick III–VI) and increased false discovery rates. Both methods demonstrated low sensitivity (45.8%) but high specificity (>95%) and negative predictive value (~91%) for clinically significant hyperbilirubinaemia. BGA had a higher diagnostic odds ratio (47.5) than TcB (19.3). When individual patient sequential SBR and BGA measurements were compared for jaundice tracking (n = 175), there was high correlation, (r = 0.971) with no statistical differences, and 50% of measurements achieving agreement within 10 μmol/L. Conclusions: BGA is a more reliable alternative to SBR than TcB, particularly in time-critical or resource-limited settings. While TcB remains a non-invasive screening tool, limited accuracy post-phototherapy and with darker skinned neonates indicate confirmatory SBR testing. These findings support the selective and context-aware use of BGA and TcB to optimise neonatal hyperbilirubinaemia management and reduce interventions. Full article

Newborns are unable to reliably express changes in their physical condition due to their physiological immaturity and limited capacity for communication; therefore, continuous and systematic monitoring during phototherapy is essential to ensure timely detection of adverse responses and maintenance of therapeutic safety. This study extends our prior work, which introduced an indirect method for measuring light intensity to improve precision in monitoring newborn skin illumination. Light-emitting diode (LED) phototherapy has attracted considerable attention as an effective treatment for neonatal jaundice (NNJ). This study introduces an three-dimensional configuration of blue LEDs. An Arduino Mega 2560 microcontroller with pulse-width modulation (PWM) technology was employed to independently regulate the intensity of LED strips, enabling precise control of light output. The strips were mounted on an arc-shaped structure that can be adjusted mechanically and electronically through pre-programmed instructions embedded in the microcontroller. The results demonstrate that blue light at a wavelength of 460 ± 10 nm aligns with the peak absorption spectrum of bilirubin, thereby optimizing the efficacy of phototherapy for NNJ. Both observed absorption peaks were within the therapeutically effective range. Computer simulations confirmed that stable output contours can be achieved using rapid electronic scanning with a PID control algorithm to dynamically adjust the duty cycle. Experimental data showed that LED radiation output was largely linear. This supports the use of linear control algorithms and confirms the platform’s feasibility for future research. 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

Background/Objective: The effectiveness of blue-light phototherapy (PT) is mainly dependent on the total dose of light (time under PT and amount of skin exposed) received by infants. The primary aim of this study was the development of a novel, flexible, and stretchable device to provide continuous PT treatment, avoiding temporary interruptions that are often observed in practice, such as during breastfeeding, for example. This study evaluated the biocompatibility of a novel, low-cost blanket equipped with light-emitting diode (LED) lamps designed to maintain therapeutic efficacy while facilitating uninterrupted skin-to-skin contact. Methods: Fourteen New Zealand White rabbits, weighing approximately 2.9 kg and aged 4 months, were randomly assigned to an experimental group (TG, n = 7) or a control group (CG, n = 7). The TG received phototherapy directly on the skin (irradiance: 19.3 [13.0–22.0] µW/cm⁻²/nm⁻¹) during two 12 h sessions over consecutive days, while the CG remained under identical conditions with the device turned off. Biochemical, hematological, dermatological, and histological parameters, as well as rectal and skin temperatures, were assessed. Results: The results showed no differences in clinical appearance or histological analysis of skin tissue between the groups. Blood analysis indicated a reduction in absolute monocyte counts in the TG compared to the CG (p = 0.049), though levels remained within normal ranges. Skin temperature was consistently higher in the TG, except during the initial measurement. Rectal temperatures were similar on the first day but lower in the TG on the second day (mean 40.3 ± 0.21 °C vs. 40.7 ± 0.32 °C; p = 0.039). Conclusions: Temperature levels remained within physiological limits for both groups throughout the study. The device demonstrated biocompatibility and caused no adverse dermatological, hematological, or biochemical effects. Full article

Phototherapy is the standard treatment for neonatal hyperbilirubinemia. During phototherapy, the highly lipophilic bilirubin is converted into more hydrophilic photoisomers, which can be more easily excreted from the body. This process typically lowers bilirubin levels to non-harmful concentrations. However, despite decades of research into the formation and role of bilirubin photoisomers, methodological limitations and the compound’s complex biochemistry have hindered comprehensive understanding. This review provides an updated overview of current knowledge on bilirubin photoisomers, including their basic chemistry, analytical quantification, clinical relevance, and future research directions. Improved insight into the mechanism of photoisomer formation and kinetics may inform optimization of phototherapy parameters, including light intensity and wavelength, and offer additional indicators of treatment efficacy beyond total bilirubin concentration. Advances in sensitive and standardized mass spectrometry techniques now enable more accurate measurement of different bilirubin isomers and serve as a first step towards a deeper insight into the clinical relevance of photoisomers. Full article

Hyperbilirubinemia, commonly known as jaundice, is a prevalent condition in newborns, primarily arising from alterations in red blood cell metabolism during the first week of life. While conventional diagnostic methods, such as serum analysis and transcutaneous bilirubinometry, are effective, there remains a critical need for robust, non-invasive, image-based diagnostic tools. In this study, we propose a custom-designed convolutional neural network for classifying jaundice in neonatal images. Image preprocessing and segmentation techniques were systematically evaluated. The optimal workflow, which incorporated contrast enhancement and the extraction of regular skin patches of 144 × 144 pixels from regions of interest segmented using the Segment Anything Model, achieved a testing F1-score of 0.80. Beyond performance, this study addresses numerous shortcomings in the existing literature in this area relating to trust, replicability, and transparency. To this end, we employ fair performance metrics that are more robust to class imbalance, a transparent workflow, share source code, and use Gradient-weighted Class Activation Mapping to visualise and quantify the image regions that influence the classifier’s predictions in pursuit of epistemic justification. Full article

Severe neonatal hyperbilirubinemia (SNH) (jaundice) is responsible for over 114,000 preventable neonatal deaths annually, as the technology that can treat the condition is cost-prohibitive for low- and middle-income countries. In this study an open-source neonatal phototherapy device (NPTD) to treat SNH was designed, built, and validated against the phototherapy technical specifications set by the American Academy of Pediatrics and UNICEF. The open-source device can be built for a tenth of the cost of the least expensive proprietary one on the market, with treatment metrics equivalent to or exceeding commercial devices available in developed nations. This device, whose material costs are USD 93.00, was shown to deliver an irradiance up to 80 µW/cm²/nm, within the acceptable wavelength range of 420–500 nm. It was further demonstrated that the unit could deliver a uniform distribution of irradiance (34.5 ± 4.3 µW/cm²/nm) over a surface area exceeding 3200 cm². These findings show that the open-source NPTD is capable of delivering accurate, consistent, and reliable irradiances for the management of SNH. By releasing full documentation in an open-source manner, the device may be broadly used to ensure affordable and consistent low-cost means of improving the quality of care for SNH. Full article

The absence of biochemical newborn screening (NBS) delays the diagnosis and treatment of congenital hypothyroidism (CH), resulting in irreversible neurodevelopmental damage. To determine the age at diagnosis for CH among Algerian children and to describe its clinical and biological characteristics, etiology, and outcome, we conducted a multicenter retrospective cohort study involving 288 children with CH across 20 pediatric centers between 2005 and 2023. The median age at diagnosis was 1.6 months, and only 28% of patients started treatment before 30 days. Prolonged neonatal jaundice was the most frequently presented symptom (58%), severe CH (fT₄ < 5 pmol/L) was observed in 35% and 52% received an insufficient initial dose of L-T₄. The median IQ of the 47 patients tested was 86; 11% had an IQ < 70, and a negative correlation was found between age at diagnosis and IQ (r = −0.48, p = 0.001). In children reassessed at age 3, 51% had normal thyroid function, indicating transient CH. Delayed diagnosis and suboptimal treatment of CH remain major challenges in Algeria, leading to substantial neurodevelopmental deficits. Pediatricians must remain cognizant of early clinical signs of CH to allow for timely diagnosis and intervention. Biochemical NBS for CH in Algeria is needed. Full article