Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.

Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.

Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.

Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.

Holoprosencephaly (HPE) is a rare congenital disorder characterized by the incomplete separation of the prosencephalon. The clinical spectrum of HPE depends on the subtypes observed on imaging, which includes lobar, semilobar, and alobar variants. Cyclopia, the most severe form of alobar HPE, is typically associated with early postnatal death within a few days. We report the case of a female infant was born at 38 weeks and 6 days of gestation, weighing 2,410 g, to a 39-year-old mother via vaginal delivery. She was the second baby of dichorionic-diamniotic twins. The neonate was born with multiple defects including facial anomalies such as cyclopia and arrhinia and was diagnosed with alobar HPE with cyclopia. This condition was suspected prenatally at 17 weeks of gestation and confirmed postnatally using brain magnetic resonance imaging. The cause of death in our patient was aspiration pneumonia with aggravated central apnea, and she survived for 8 months (240 days) with comfort care alone, without aggressive life support. This is the first report of an infant with alobar HPE, cyclopia, and arrhinia surviving for 240 days with only comfort care, marking the longest documented survival for this typically lethal condition without invasive interventions.

Background: Post-hemorrhagic hydrocephalus (PHH), a common complication of severe intraventricular hemorrhage (IVH) in very low birth weight (BW) infants, is associated with significant morbidity and poor neurological outcomes. The objective of this study was to assess the current status of PHH and analyze the risk factors associated with the necessity of treatment for PHH in infants born between 22 and 28 weeks of gestation, specifically those with severe IVH (grade 3 or 4). Methods: The analysis was conducted on 1,097 infants who were born between 22–28 gestational weeks and diagnosed with severe IVH, using data from the Korean Neonatal Network. We observed that the prevalence of PHH requiring treatment was 46.3% in infants with severe IVH. Results: Higher rates of mortality, transfer during admission, cerebral palsy, and ventriculoperitoneal shunt after discharge were higher in infants with PHH than in those without PHH. PHH in severe IVH was associated with a higher rate of pulmonary hemorrhage, seizures, and IVH grade 4 in the entire cohort. In addition, it was associated with a lower rate of small for gestational age and chorioamnionitis. In the subgroup analysis, high BW, outborn status, pulmonary hemorrhage, seizure, sepsis, and IVH grade 4 were associated with a higher incidence of PHH between 22 and 25 gestational weeks (GW). In infants born between 26 and 28 GW, a higher incidence of PHH was associated with seizures and IVH grade 4. Conclusion It is necessary to maintain meticulous monitoring and neurological intervention for infants with PHH not only during admission but also after discharge. In addition, identifying the clinical factors that increase the likelihood of developing PHH from severe IVH is crucial.

Background: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA. Methods: In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping.The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trioWGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group. Results: The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants.There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants. Conclusion This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.

Objective: To investigate whether reader training improves the performance and agreement of radiologists in interpreting unenhanced breast magnetic resonance imaging (MRI) scans using diffusion-weighted imaging (DWI). Materials and Methods: A study of 96 breasts (35 cancers, 24 benign, and 37 negative) in 48 asymptomatic women was performed between June 2019 and October 2020. High-resolution DWI with b-values of 0, 800, and 1200 sec/mm 2 was performed using a 3.0-T system. Sixteen breast radiologists independently reviewed the DWI, apparent diffusion coefficient maps, and T1-weighted MRI scans and recorded the Breast Imaging Reporting and Data System (BI-RADS) category for each breast. After a 2-h training session and a 5-month washout period, they re-evaluated the BI-RADS categories. A BI-RADS category of 4 (lesions with at least two suspicious criteria) or 5 (more than two suspicious criteria) was considered positive.The per-breast diagnostic performance of each reader was compared between the first and second reviews. Inter-reader agreement was evaluated using a multi-rater κ analysis and intraclass correlation coefficient (ICC). Results: Before training, the mean sensitivity, specificity, and accuracy of the 16 readers were 70.7% (95% confidence interval [CI]: 59.4–79.9), 90.8% (95% CI: 85.6–94.2), and 83.5% (95% CI: 78.6–87.4), respectively. After training, significant improvements in specificity (95.2%; 95% CI: 90.8–97.5; P = 0.001) and accuracy (85.9%; 95% CI: 80.9–89.8; P = 0.01) were observed, but no difference in sensitivity (69.8%; 95% CI: 58.1–79.4; P = 0.58) was observed. Regarding inter-reader agreement, the κ values were 0.57 (95% CI: 0.52–0.63) before training and 0.68 (95% CI: 0.62–0.74) after training, with a difference of 0.11 (95% CI: 0.02–0.18; P = 0.01). The ICC was 0.73 (95% CI: 0.69–0.74) before training and 0.79 (95% CI: 0.76–0.80) after training (P = 0.002). Conclusion Brief reader training improved the performance and agreement of interpretations by breast radiologists using unenhanced MRI with DWI.

Purpose: Hypothermia upon admission to the neonatal intensive care unit (NICU) contributes significantly to various neonatal complications, particularly in preterm infants. This study aimed to assess the impact of quality improvement (QI) interventions, including using plastic bags and head caps, and adjusting delivery room temperatures, on improving the admission body temperature and reducing hypothermia in infants born at less than 32 weeks or weighing 1,500 g. Methods: This study retrospectively analyzed the medical records of infants born at less than 32 weeks or weighing 1,500 g who admitted to the NICU at Samsung Medical Center from January 2022 to February 2024. The QI program that was initiated in April 2023 focused on managing admission temperatures using plastic bags and head caps, and maintaining delivery room temperatures at ≥25 °C. The admission temperature and short-term outcomes pre- and post-QI were compared. Results: In a study of 270 patients, implementing QI initiatives significantly raised the admission temperature from 36.2±0.5 to 36.4±0.4 °C (p<0.01), particularly impacting infants weighing ≥1,000 g, in whom mild hypothermia occurrences dropped from 76.3% to 43.9% (p<0.01). This improvement in temperature management significantly decreased both mild and severe hypothermia rates post-QI. Additionally, implementing all three initiatives was more effective than when two or fewer initiatives were implemented. Conclusion Simple and cost-effective QI interventions can increase admission temperatures and decrease hypothermia in neonates. Further research is essential to explore the long-term outcomes and develop effective hypothermia management strategies in neonatal care.

Purpose: To investigate the risk factors associated with hypospadias in very low birth weight (VLBW) infants (VLBWIs). Methods: We retrospectively analyzed 729 infants born at ≥24 weeks of gestational age and weighing <1,500 g from January 2012 to December 2022. We assessed the prevalence of hypospadias by birth weight percentiles and also compared the demographics and placental histopathology of the infants with hypospadias (n=52) and those without hypospadias (n=677). Results: Of the 729 patients analysed, hypospadias was recorded in 26 (20.3%), 14 (26.9%), and 12 (2.5%) infants in the <3rd, ≥3rd–<10th, and ≥10th–<90th percentiles, respectively. Of all of the patients with hypospadias, 50% had birth weights <3rd percentile (p<0.001). The hypospadias group demonstrated a longer mean gestational age (30.1 weeks vs. 27.9 weeks, p<0.001), lower incidence of maternal pregnancy-induced hypertension (48.1% vs. 17.3%, p<0.001), lower incidence of premature rupture of membrane (11.5% vs. 27.1%, p=0.013), lower acute chorioamniotic maternal response (9.1% vs. 35.2%, p<0.001), and higher maternal underperfusion (95.5% vs. 71.9%, p<0.001). Conclusion The frequency of hypospadias was found to be the highest among VBLWIs <3rd percentile, who were severely small for their gestational age (SGA). Additionally, the incidence increased with a decreasing birth weight. Physical examination is necessary at birth for VLBWIs classified as SGA. Moreover, the data on the incidence of hypospadias among VLBWIs in neonatal intensive care units can assist in tracking counseling from the prenatal to the postnatal period for patients born <3rd percentile.