Neonatal Hypoglycemia.

Neonatal hypoglycemia (NH) is broadly defined as a low plasma glucose concentration that elicits hypoglycemia-induced impaired brain function. To date, no universally accepted threshold (reference range) for plasma glucose levels in newborns has been published, as data consistently indicate that neurologic responses to hypoglycemia differ at various plasma glucose concentrations. Infants at risk for NH include infants of diabetic mothers, small or large for gestational age, and premature infants. Common manifestations include jitteriness, poor feeding, irritability, and encephalopathy. Neurodevelopmental morbidities associated with NH include cognitive and motor delays, cerebral palsy, vision and hearing impairment, and poor school performance. This article offers a timely discussion of the state of the science of NH and recommendations for neonatal providers focused on early identification and disease prevention.

Identifying Metabolic Diseases That Precipitate Neonatal Seizures.

Although a rare cause of neonatal seizures, inborn errors of metabolism (IEMs) remain an essential component of a comprehensive differential diagnosis for poorly controlled neonatal epilepsy. Diagnosing neonatal-onset metabolic conditions proves a difficult task for clinicians; however, routine state newborn screening panels now include many IEMs. Three in particular-pyridoxine-dependent epilepsy, maple syrup urine disease, and Zellweger spectrum disorders-are highly associated with neonatal epilepsy and neurocognitive injury yet are often misdiagnosed. As research surrounding biomarkers for these conditions is emerging and gene sequencing technologies are advancing, clinicians are beginning to better establish early identification strategies for these diseases. In this literature review, the authors aim to present clinicians with an innovative clinical guide highlighting IEMs associated with neonatal-onset seizures, with the goal of promoting quality care and safety.

Situs Inversus Totalis in a Newborn With Primary Ciliary Dyskinesia.

Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications.

Tracheoesophageal Fistula With Esophageal Atresia: A Case Series.

Tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) results from maldevelopment of the trachea and esophagus during maturation of the primitive foregut. EA/TEF commonly presents shortly after birth because of increased oral secretions and the inability to advance a nasogastric or orogastric tube to the proper depth. Given that prenatal diagnosis is uncommon and early intervention is important to reduce morbidity and mortality risk, early recognition and diagnosis are imperative. We present a case series of two neonates diagnosed with EA/TEF, type "C" and type "E," born at low-acuity centers, who required transport to a tertiary center for surgical support. The pathophysiology as well as types of TEFs, symptomology, stabilization goals, corrective treatment, and long-term implications will be examined. Finally, the educational needs of parents and caregivers will be discussed.

Congenital and Postnatal Cytomegalovirus: Case Series and State of the Science for Neonatal Providers.

Cytomegalovirus (CMV), a beta-herpes virus, is the most common viral infection in infants. Transmission may occur congenitally (cCMV) or postnatally (pCMV). Early detection and intervention are crucial in reducing morbidities, notable developmental delays, and sensorineural hearing loss. However, more than 90% of infants are asymptomatic at birth. Treatment involves intravenous ganciclovir or the oral prodrug, valganciclovir, drugs usually reserved for use with symptomatic infants because of the toxicity profile. Research currently supports standardized antenatal CMV screening and treatment of affected pregnant patients with hyperimmune globulin as well as vaccination against CMV in unaffected pregnant patients, although widespread adoption is lacking. Standardized postnatal CMV screening is a proven, cost-effective way to detect and diagnose CMV and optimize outcomes across the lifespan. This article presents a case series of cCMV and pCMV and a review of the state of science of CMV as well as promising scientific advances that are on the horizon.

Congenital Syphilis Infection: A Case Study.

Congenital syphilis (CS) infection occurs by way of vertical transmission of the bacteria Treponema pallidum from mother to fetus. While nearly eliminated by the turn of the twenty-first century, CS has resurged in recent years and currently represents a worldwide public health calamity secondary to insufficient prenatal care and inadequate maternal treatment. Fetal and neonatal consequences include stillbirth, cutaneous and visceral symptoms, asymptomatic infection, and death. Given the rise in cases in both wealthy and resource-poor areas, neonatal clinicians are obligated to maintain acumen specific to risk factors, manifestations, and treatment regimens. However, limited data guide postnatal treatment regimens, particularly in preterm neonates. We present a case report of a preterm female with CS and integrated review of the literature. Our findings indicate that CS is preventable through efficient and judicious perinatal screening, early detection, and adequate treatment of maternal syphilis during pregnancy.

The Subtlety of 22q11.2 Deletion Syndrome in a Preterm Neonate.

To date, 22q11.2 deletion syndrome (DS) is regarded as the most commonly diagnosed DS in humans. The location of the deletion on chromosome 22 affects the phenotypic presentation, which ranges from subtle to severe. Common manifestations include congenital heart defects, calcium deficiency, clefts and other midline defects, immunodeficiencies, and neurocognitive delay. This wide range of clinical manifestations can complicate diagnostic reasoning as many align with other disease processes commonly observed in preterm neonates. This article presents the case of a preterm neonate born at 25-weeks' gestation with 22q11.2 DS. The clinical presentation of this neonate included a right aortic arch, ventricular septal defect, hypocalcemia, borderline severe combined immunodeficiency, and abnormal thyroid function. The infant's hospital course is followed to highlight the challenges clinicians face when suspicious of a genetic disorder in a preterm neonate.

Cystic Fibrosis: Back to the Basics.

Cystic fibrosis (CF) is the most common genetic disorder in Caucasian individuals, with an incidence of 1/2,500-3,500 live births. When CF was first described in 1938, most children died in infancy. Currently, the average lifespan is 28-47.7 years. Although new breakthroughs have occurred, CF is still incurable. Both early diagnosis and treatment by multidisciplinary teams are essential to optimize short- and long-term outcomes. It is imperative for neonatal clinicians to keep up to date on the most current research, treatment, and management of CF to provide the best outcomes. This article offers clinicians an updated review of the pathophysiology and clinical manifestations of CF, as well as current evidence-based diagnostics and treatment regimens.

Relative Adrenal Insufficiency: Crisis Averted?

Relative adrenal insufficiency (AI) is a disease process commonly associated with preterm birth and critical illness. Further, the incidence of AI is inversely proportional to gestational age. The incidence of AI is likely underreported; however, it is reported to occur in 150-280/1,000,000 live births worldwide. Functional development of the adrenal gland does not occur until after 30 weeks of gestation; however, advances made in neonatal care increase the survivability of infants born well before this period. Among infants with AI, the adrenal gland is transiently incapable of secreting physiologic levels of cortisol in response to stressors. Common and nonspecific signs include hypotension, poor perfusion, and dysregulation of fluid, electrolytes, and euglycemia. Recognition, diagnosis, and steroid therapy is critical, as inappropriately managed AI can lead to an adrenal crisis, shock, and death. Understanding the presentation and common risk factors for developing relative AI is crucial for quick diagnosis and timely management to prevent morbidity and mortality in this vulnerable population.

Congenital Hypothyroidism.

Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention. Although the overall mortality rate of CH is low, delayed or omitted treatment can lead to devastating neurocognitive outcomes. As such, CH is regarded as the leading cause of preventable intellectual disability in children. Early identification, facilitated by astute neonatal nursing and medical care, is contingent upon an active working knowledge of the disease process and awareness of the limitations of the newborn screen.

Chylothorax: A Stepwise Approach to Diagnosis and Treatment.

Chylothorax, a lymphatic flow disorder characterized by an abnormal circulation of lymph fluid into the pleural cavity, is the most common cause of pleural effusions during the neonatal period. This condition affects 1/15,000 neonates every year. Affected neonates often manifest with respiratory distress, electrolyte imbalances, sepsis, and even immunodeficiencies. Mortality risk is highest among neonates undergoing cardiac surgery as well as those with associated hydrops fetalis. Conservative treatment options include bowel rest with administration of parenteral nutrition, followed with medium-chain triglyceride enteral feedings, and octreotide therapy. Severe or persistent cases require surgical intervention. This can involve a unilateral or bilateral pleurectomy and thoracic duct ligation, with or without pleurodesis. Early identification and successful treatment of this condition is contingent upon awareness of the most current evidence and a timely cross-disciplinary approach to care.

Pulmonary Hemorrhage in the Neonate.

Pulmonary hemorrhage (PH) is a pathology associated with significant morbidity and mortality, particularly among preterm infants in the NICU. The diagnosis is made when hemorrhagic secretions are aspirated from the trachea concurrent with respiratory decompensation that necessitates intubation or escalated support. The implementation of mechanical ventilation and widespread exogenous surfactant administration have significantly reduced respiratory morbidities. However, when PH develops, death remains the most common outcome. Treatment for PH remains primarily supportive; thus, a thorough understanding of underlying disease processes, manifestations, diagnostic testing, and current evidence is vital to enable early identification and proactive management to reduce morbidity and mortality.

Congenital Diaphragmatic Hernia: Core Review and Novel Updates.

Congenital diaphragmatic hernia (CDH) is a developmental defect in the diaphragm that allows abdominal viscera to herniate into the thoracic cavity. Pulmonary hypoplasia and pulmonary hypertension are consequences of this disease process. The incidence is approximately 2.4-4.1/10,000 births, and survival rate is estimated at 70-90 percent. To avoid potentially devastating delays in care, it is crucial that neonatal nurses and care providers in both tertiary and nontertiary care centers be familiar with the pathogenesis of CDH and the standard of care for initial stabilization of the neonate. Novel fetal and postnatal surgical repair techniques are also described here.

Arnold-Chiari Malformation: Core Concepts.

Arnold-Chiari malformation (ACM), a defect that involves downward displacement of the hindbrain and herniation of the cerebellar vermis, tonsils, pons, medulla, and fourth ventricle through the foramen magnum, is the most complex of the 4 types of Chiari malformations. Unique to the other types of Chiari malformations, approximately 95 percent of infants with ACM also present with an associated myelomeningocele (MMC), the most severe form of spina bifida. Among affected infants, those with symptomatic comorbidities incur a significantly higher morbidity and mortality risk. Prompt identification and diagnosis of ACM, as well as evidence-based postnatal and postsurgical nursing and medical care, is critical. Early surgical intervention can repair an existing MMC and restore proper cerebrospinal fluid circulation, which can dramatically improve patient outcomes and quality of life, and reduce disease and health care burden.

Neonatal Sepsis: A Review of Pathophysiology and Current Management Strategies.

BACKGROUND: Early-onset sepsis, occurring within 72 hours of birth, and late-onset sepsis, occurring after this time period, present serious risks for neonates. While culture-based screening and intrapartum antibiotics have decreased the number of early-onset cases, sepsis remains a top cause of neonatal morbidity and mortality in the United States. PURPOSE: To provide a review of neonatal sepsis by identifying its associated risk factors and most common causative pathogens, reviewing features of the term and preterm neonatal immune systems that increase vulnerability to infection, describing previous and the most current management recommendations, and discussing relevant implications for the neonatal nurse and novice neonatal nurse practitioner. METHODS/SEARCH STRATEGY: An integrative review of literature was conducted using key words in CINAHL, Google Scholar, and PubMed. FINDINGS/RESULTS: Group B streptococcus and Escherichia coli are the most common pathogens in early-onset sepsis, while Coagulase-negative staphylococci comprise the majority of cases in late-onset. The neonatal immune system is vulnerable due to characteristics including decreased cellular activity, underdeveloped complement systems, preferential anti-inflammatory responses, and insufficient pathogenic memory. Blood cultures remain the criterion standard of diagnosis, with several other adjunct tests under investigation for clinical use. The recent development of the sepsis calculator has been a useful tool in the management of early-onset cases. IMPLICATIONS FOR PRACTICE: It is vital to understand the mechanisms behind the neonate's elevated risk for infection and to implement evidence-based management. IMPLICATIONS FOR RESEARCH: Research needs exist for diagnostic methods that deliver timely and sensitive results. A tool similar to the sepsis calculator does not exist for preterm infants or late-onset sepsis, groups for which antibiotic stewardship is not as well practiced.Video Abstract available athttps://journals.lww.com/advancesinneonatalcare/Pages/videogallery.aspx?autoPlay=false&videoId=40.

The Pathophysiology, Diagnosis, and Management of Wolff-Parkinson-White Syndrome in the Neonate.

BACKGROUND: Wolff-Parkinson-White (WPW) is a congenital defect of the cardiac conduction system (CCS), with proliferation of extra embryologic conduction pathways and rapid conduction of electrical impulses. The estimated neonatal incidence of 0.1% to 0.2% may be misrepresented secondary to missed or misdiagnosis. Undiagnosed WPW can result in sudden cardiac death. PURPOSE: To discuss the pathogenesis, manifestations, diagnosis, management, and lifespan implications of WPW in the prenatal and postnatal periods. METHODS/SEARCH STRATEGY: A literature review was conducted using PubMed, CINAHL, and Google Scholar (2013-2019). Search terms included (newborn OR infant), wolff parkinson white, pathogenesis, management, and ventricular preexcitation. After removal of duplicates, 267 references were identified, abstracts reviewed, and 30 publications fully evaluated. FINDINGS/RESULTS: Separation of the heart chambers begins around 7 weeks' gestation with formation of the annulus fibrosis complete after term. The unknown external environmental influence on the development of the preterm infant's CCS places neonates at risk for persistent atrioventricular reentrant tachycardia with WPW development. Ensuring an appropriate diagnosis is crucial, as an incorrect diagnosis could mean death. IMPLICATIONS FOR PRACTICE: Due to the rarity of WPW, any fetal or neonatal supraventricular tachycardia requires further evaluation with an electrocardiogram and involvement of an experienced cardiologist for diagnosis. One episode of supraventricular tachycardia warrants evaluation for WPW, as recurring episodes may result in irreversible damage. IMPLICATIONS FOR RESEARCH: The recommendations for treatment of WPW in the prenatal and immediate postnatal periods are based heavily on standards of care for the adult population. A paucity of evidenced-based literature exists and future research is crucial to understand the true incidence, physiologic effects, and lifespan implications of WPW on neonates.

Neonatal Alloimmune Thrombocytopenia: A Concise Review.

BACKGROUND: Neonatal alloimmune thrombocytopenia (NAIT) is defined as an uncommon platelet disorder caused by maternal alloimmunization to human-specific antigens (HPAs) that are paternally inherited, resulting in low fetal/neonatal platelet levels and debilitating effects on the newborn. The incidence of NAIT is 1 in every 1000 live births within the United States; it is the most common cause of severe thrombocytopenia (<30 × 109/L) and intracranial hemorrhage in term newborns. PURPOSE: The purpose of this article is to discuss the pathophysiology, clinical manifestations, diagnosis, and treatment of NAIT and its implications upon the lifespan of the neonate. METHODS: A literature review was conducted using PubMed, CINAHL, and Google Scholar (2014-2019). Search terms included NAIT, neonatal/fetal alloimmune thrombocytopenia, newborn platelets, and intracranial bleeding and NAIT. RESULTS: NAIT can affect first pregnancies and often goes undiagnosed until delivery. Universal screening tools with a focus on HPA-1a typing via noninvasive testing have been successfully trialed and have yielded promising results indicating a 75% reduction in risks associated with NAIT; however, none have been incorporated into practice and prophylactic treatment remains unavailable. IMPLICATIONS FOR RESEARCH: Adopting a universal screening tool and prophylaxis for NAIT would allow for early diagnosis and treatment in utero. IMPLICATIONS FOR PRACTICE: Many healthcare providers are not familiar with NAIT often focusing on other causes of thrombocytopenia as a potential diagnosis.