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Neonatal hearing loss remains a significant global health concern, contributing substantially to long-term communication difficulties, language delays, and social impairment. Neonatal hearing loss arises from a multifactorial interplay of infectious, genetic, and acquired etiologies, each contributing distinctly to auditory impairment. Genetic factors account for a substantial proportion of sensorineural hearing loss, influencing susceptibility and severity. Congenital and perinatal infections are preventable causes that can induce cochlear injury through cytotoxicity, inflammation, ischemia, and disruption of auditory development. Acquired conditions, including hyperbilirubinemia, kernicterus, aminoglycoside and loop-diuretic ototoxicity, hypoxic-ischemic injury, and other neonatal intensive care unit-related exposures, further contribute through mechanisms involving neurotoxicity, oxidative stress, and impaired neural transmission. Understanding this broad etiological spectrum is essential for early risk identification, targeted prevention, and timely auditory intervention. Early detection through newborn hearing screening, TORCH surveillance, and pharmacogenomic approaches offers an opportunity for timely interventions that may preserve auditory and developmental outcomes. This review provides a comprehensive synthesis of the epidemiology, pathophysiology, diagnostic approaches, and evidence-based management strategies for neonatal hearing loss, with particular attention to recent advances published within the last decade.
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In the neonatal intensive care unit (NICU), patients, families, and care teams are all likely to undergo traumatic experiences. Infants are separated from their parents and undergo multiple painful or stressful procedures. Families experience fear for their infants' health and survival and the disempowerment coming with a loss of parental role; many also experience differential treatment by race, language, or other factors. Care teams bear witness to the illness and sometimes death of infants and the pain of their families. All these and many other experiences constitute trauma, which may impact the long-term course of infants and families. Trauma-informed care has therefore been promoted as a universal practice. In the NICU, trauma-informed care principles may be applied to help optimally care for infants and their families as well as to support members of the care team.
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In this review, we provide a comprehensive overview of quality improvement (QI) methodologies within the neonatal intensive care unit (NICU), underlining their significance in enhancing health care quality and outcomes. We begin with an exploration into the history and application of QI in health care, with a particular focus on the NICU. We then delve into QI methodologies: the Model for Improvement, Lean, Six Sigma, and Lean Six Sigma. Through examining these models, we underscore the importance of integrating QI practices to strengthen patient safety and clinical outcomes in NICUs and broader health care settings.
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Mechanical ventilation remains a cornerstone of neonatal intensive care, particularly for premature infants with respiratory distress syndrome. While blood gas analysis and radiographs provide clinical information, ventilator pulmonary graphics offer continuous, noninvasive insights into respiratory mechanics. Modern ventilators generate real-time data that help clinicians assess lung compliance, airway resistance, and patient-ventilator synchrony. Pressure-volume and flow-volume loops provide visual cues for detecting changes in compliance, air leaks, secretions, overdistension, air trapping, and autocycling. Understanding these graphical patterns supports individualized ventilator adjustments and early recognition of evolving pulmonary pathology. In this review, we provide clinicians in the neonatal intensive care unit with a toolbox to help analyze ventilator graphics in mechanically ventilated infants.
Small molecule therapies that restore function to the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein, referred to as CFTR modulators, have emerged as a key therapeutic approach for people with CF who carry responsive genetic variants. Their effects have been transformative to the lives of many of those living with CF. As the reach of CFTR modulators expands, new questions arise about their role beyond approved clinical indications for people with CF. One such area of growing interest is the use of CFTR modulator therapy during pregnancy to treat suspected meconium ileus, a particularly severe fetal and immediate postnatal manifestation of CF. In this review, we summarize the current data about use of CFTR modulator therapy during pregnancy, including reported effects in pregnant persons and their offspring. We describe the potential of this in utero therapy to prevent meconium ileus and to maintain exocrine pancreatic function in infants with CF. However, these potential benefits must be weighed carefully with the known and potential risks of CFTR modulator therapy. We address ethical implications and important knowledge gaps related to prenatal CFTR modulator use during pregnancy. Further evidence is needed to determine best practices for CFTR modulator use during pregnancy.
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The care of patients with difference(s) of sex development (DSD) is rapidly evolving, and this is especially true for the care of newborns with a suspected DSD. This review presents a paradigm for care, with an emphasis on a family-focused, shared decision-making approach that seeks to de-escalate the sense of "social crisis" that may arise when a baby is born with concern for a DSD. In addition to providing education and psychosocial support, tasks for the neonatal team include monitoring for hypoglycemia, determining the sex-chromosome complement, testing for congenital adrenal hyperplasia (and if appropriate, initiating treatment), and starting the diagnostic evaluation, recognizing that this evaluation and care will extend beyond the neonatal period and continue in the outpatient setting. Surgery is rarely indicated in the neonatal period, but parents may seek counseling about future surgical options; this counseling should avoid leading parents and families to believe that surgery can "fix" their child's DSD. A key component of care is connecting patients and families with clinicians who have the expertise to provide consultative and ongoing care-ideally a multidisciplinary team that includes mental-health, medical, and surgical expertise-and with written and online resources as well as support groups.
Congenital long QT syndrome (LQTS) is a cardiac channelopathy caused by mutations in cardiac ion channel genes, leading to delayed ventricular repolarization, QT interval prolongation, and risk of malignant arrhythmias and sudden cardiac death. The condition often presents during childhood or adolescence but can be identified in neonates, particularly when there is a positive family history. Early recognition is critical, as timely intervention with beta-blockers and avoidance of QT-prolonging medications can prevent life-threatening events. We report the case of a full-term neonate born via cesarean section to a mother with congenital long QT syndrome (LQT2) and a strong family history of arrhythmic events. On day 1 of life, screening electrocardiogram (ECG) revealed a markedly prolonged corrected QT (QTc) prompting neonatal intensive care unit admission for further monitoring and evaluation. Propranolol was initiated, resulting in gradual QTc improvement over the first week of life. Genetic testing confirmed LQT2, with a pathogenic KCNH2 variant identified. The infant remained clinically stable and asymptomatic throughout hospitalization. The diagnosis of LQTS relies on a combination of ECG findings, clinical history, and genetic testing. Beta-blockers are the first-line therapy, and avoiding QT-prolonging medications is critical. In neonates, early recognition and treatment are vital to prevent arrhythmias. This case highlights the importance of early neonatal ECG screening in the setting of a family history of LQTS and emphasizes the need for multidisciplinary approach to optimize diagnosis, treatment, and counseling.
Congenital pulmonary airway malformations (CPAM) are multi-cystic masses in the thorax that contain abnormal lung tissue with highly variable presentations. Whereas some pose no considerable risk to the pregnant individual or fetus, larger or high-risk lesions carry significant morbidity and mortality that present unique diagnostic and management challenges. We present 2 cases of fetal CPAMs with dominant cysts that posed unique challenges during the pregnancy. The first had an early presentation at 13 weeks' gestation, and the second had a rapidly increasing CPAM volume ratio. After careful consideration, both pregnant individuals underwent fetal interventions with placement of thoracoamniotic shunts. The subsequent care during the pregnancies and in the neonatal period was complex and required a multidisciplinary approach to care. These cases highlight the nuances of diagnosing and managing CPAMs in utero and after delivery. We also present a comprehensive review of CPAM literature to help guide management of the pregnancy and neonate. Optimal management requires multidisciplinary prenatal counseling, individualized delivery planning, and neonatal management.
Congenital diaphragmatic hernia (CDH) is a complex developmental anomaly characterized by pulmonary hypoplasia, abnormal pulmonary vascular development, and variable cardiac dysfunction. Due to advances in neonatal intensive care, center expertise, and surgical repair after physiologic stability, mortality has improved over the past few decades, with survival rates in isolated mild to moderate cases approaching 75% to 90%. This review synthesizes contemporary evidence across the continuum of care for CDH: prenatal diagnosis and imaging; fetal intervention, including fetoscopic endoluminal tracheal occlusion (FETO); delivery planning; postnatal stabilization; ventilatory and hemodynamic management; extracorporeal membrane oxygenation (ECMO); surgical repair; postoperative care; chronic morbidity; and survivorship. Emerging areas include precision prenatal risk stratification, refinement of FETO, harmonized ECMO and surgical guidelines, and long-term multidisciplinary models of care.
Preterm infants face significant growth challenges due to high metabolic demands, limited nutrient reserves, poor temperature control, and prolonged illness. These challenges are prevalent in all neonatal intensive care units, irrespective of the level of resources available. In low- and middle-income countries (LMICs), preterm infant nutrition risk can be exacerbated by constrained tangible and human resources, making the provision of adequate nutrition even more difficult. In this article, we explore neonatal growth and nutrition in LMICs and identify key strategies that clinicians can adopt to optimize the use of available enteral and parenteral nutrition resources. We address the following approaches: (1) when and how to use alternative fortifiers if infant formula is cost-prohibitive, (2) strategies to optimize intravenous fluids in the absence of total parenteral nutrition, (3) nonfeeding interventions to optimize growth, and (4) discharge feeding strategies and ongoing growth assessments for extremely low-birth-weight infants. The findings of this article highlight the importance of tailored nutritional approaches, the need for innovative resource management, and the critical role of interdisciplinary collaboration in enhancing the care of preterm infants globally.
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