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Chronic Neonatal Respiratory Disorders

Key Points Bronchopulmonary dysplasia (BPD), as determined near term corrected age in former preterm newborns < 32 weeks’ gestational age is a marker for chronic respiratory morbidity. Newborns that are most immature and those born from an adverse intrauterine environment, affected by maternal vascular disorders and decreased intrauterine growth, are most susceptible to early neonatal respiratory illness. Early neonatal respiratory illness, marked by increased exposure to…

Acute Neonatal Respiratory Disorders

Key Points Marked hypoxemia in the newborn can be caused by parenchymal lung disease, pulmonary vascular disease, or congenital heart defects. Events occurring at delivery, as well as the response to supplemental oxygen and to continuous positive airway pressure, can provide important clues to the pathophysiology of hypoxemic respiratory failure in the newborn. The echocardiogram has become a vital tool in the clinical management of newborns…

Control of Breathing

Key Points Apnea of prematurity is universal in preterm infants and a manifestation of greater inhibitory (rather than excitatory) influences on the central respiratory network. In premature infants, excitation of peripheral arterial chemoreceptors by hypoxia predisposes to periodic breathing and the hypoxic ventilatory response is not sustained. The protective upper airway reflex (laryngeal chemoreflex) prevents aspiration, but in premature infants, profound bradycardia, apnea, and oxygen desaturation…

Neonatal Respiratory Therapy

Key Points Most neonatal lung diseases are characterized by increased alveolar surface tension causing atelectasis. To offset this, pressure is applied to the upper airway through either noninvasive or invasive techniques. Regardless of the support technique applied, mean airway pressure (mPaw) is a good measure of the amount of support that is applied to offset these surface forces and improve ventilation/perfusion matching and oxygenation. There are…

Neonatal Pulmonary Physiology

Key Points Understanding the movement and maintenance of a volume of gas in and out of the lungs forms the basis of pulmonary physiology. Maintenance of functional residual capacity (FRC) is vital to adequate lung mechanics and gas exchange. There are multiple methods and techniques for measuring respiratory mechanics in healthy newborns and sick infants. However, to be clinically relevant, the results of these measurements must…

Lung Development

Key Points Lung organogenesis is organized into five stages, beginning at embryonic day 25 in humans. The mechanisms of lung organogenesis, including branching morphogenesis, stretch/mechanotransduction, alveolarization, microvascular maturation, and cellular differentiation, depend on transcriptional regulation of cell–cell and cell–extracellular matrix signaling networks. Alveolarization and lung growth are primarily postnatal processes that extend to early adulthood to establish a surface area that matches growing metabolic needs. Disruption…

Healthcare-Associated Infections

Key Points Healthcare-associated infections (HAIs) are important preventable causes of morbidity and death in neonates. Central line–associated bloodstream infections cause the bulk of HAIs in the neonatal intensive care unit; other HAIs include ventilator-associated pneumonias, urinary tract infections, surgical site infections, and nosocomial viral infections. Several modifiable risk factors have been identified for these conditions. Preventive strategies must focus on basic hand hygiene and infection control…

Fungal Infections in the Neonatal Intensive Care Unit

Key Points Fungal infections account for approximately 12% of neonatal late-onset sepsis, with a mortality rate of approximately 32%, and the most important risk factor remains the gestational age at birth. When a lumbar puncture is performed, 10% to 50% of candidemic infants have associated meningitis and a significant percentage of extremely low birth weight (ELBW, BW<1000 g) infants with Candida meningitis have negative blood cultures.…

Congenital Toxoplasmosis, Syphilis, Malaria, and Tuberculosis

Key Points Maternal transmission of Toxoplasma gondii in the first trimester causes the greatest damage to the fetus, while infections later in pregnancy are more readily transmissible to the fetus. No neonate should be discharged from a birth hospital without documentation of maternal syphilis testing. If maternal syphilis testing is positive, adequacy and timing of maternal treatment, comparison of infant and maternal serology, and infant’s examination…

Viral Infections of the Fetus and Newborn

Key Points Viral infections of the fetus and newborn are common problems in neonatology practice. Fetal (congenital) viral infections should be considered in the differential diagnosis of newborns with intrauterine growth retardation, physical examination and laboratory abnormalities, and illness in the newborn period. Perinatal viral infections involve transmission during the birth process and can result in severe neonatal disease both due to high inoculum and relative…

Neonatal Bacterial Sepsis and Meningitis

Key Points Group B streptococcus and Escherichia coli account for most of the cases of neonatal early-onset bacterial sepsis. Prevention of infection by maternal treatment is the main factor accounting for the decreased incidence of early-onset group B streptococcus sepsis but does not affect rates of late-onset group B streptococcus sepsis. Microbiologic blood cultures of adequate volume (at least 1.0 mL) represent the mainstay for the…

Immunology of the Fetus and Newborn

Key Points The fetus and newborn express a distinct and evolving immune system that mediates transition from intrauterine life to the microbe- and antigen-rich world. Multiple mechanisms including regulatory T cells help ensure maternofetal immune compatibility. Newborns are highly reliant on soluble and cellular innate immune mechanisms whose ontogeny depends on gestational and postnatal age. Adaptive immunity in newborns features distinct ontogeny and functionality of T…

Congenital Disorders of Glycosylation, Peroxisomal Disorders, and Smith-Lemli-Opitz Syndrome

Key Points The phenotypic spectrum of glycosylation disorders is broad and ranges from mild to severe and from single-organ system to multisystem disease; glycosylation defects should be considered in any unexplained clinical condition, but especially in multiorgan disease with neurologic involvement. Diagnosis of congenital disorders of glycosylation mainly relies on next-generation sequencing techniques. Treatment is largely supportive except for rare exceptions where nutritional supplements are effective.…

Lysosomal Storage Disorders Presenting in the Neonate

Key Points Lysosomal storage diseases are a genetically and phenotypically heterogeneous group of metabolic disorders caused by multisystemic accumulation of complex substrates. Clinical manifestations of lysosomal storage diseases in the neonatal period are myriad, including nonimmune hydrops fetalis, respiratory distress, sepsis, macular cherry-red spot, dysmorphic facial features, dysostosis multiplex, and hepatosplenomegaly. Newborn screening for certain lysosomal storage diseases such as mucopolysaccharidosis type I and Pompe disease…

Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism

Acute, life-threatening disease during the newborn period is a feature of many inborn errors of metabolism, including those of ammonia, carbohydrate, amino acid, fatty acid, ketone, and mitochondrial energy metabolism. Therefore, it is critical that neonatologists are familiar with the clinical symptoms, laboratory findings, methods of diagnosis, and empiric—as well as specific—management of each of these classes of disease ( Table 29.1 ). Importantly, newborn screening…

Chromosome Disorders

Key Points Early identification of an underlying genetic condition in a patient can aid in defining a treatment plan and help to identify resources for better care for patients and their families. In counseling the family of a newborn with a newly diagnosed chromosomal disorder, it is important to include the organ systems affected in the baby and the severity of each malformation when discussing prognosis.…

The Dysmorphic Infant

Key Points A genetic diagnosis can direct medical care (treatment, screening for other anomalies or issues that will arise in the future), provide information about prognosis, and give a recurrence risk to families. A genetics evaluation should be considered for a patient in the setting of multiple anatomic anomalies, known maternal exposure to a teratogen, a history of familial disorders, increased carrier frequency or ethnic risk,…

Prenatal Diagnosis and Counseling

Key Points All pregnant women should have the option to undergo prenatal screening/diagnosis for genetic conditions and/or birth defects. Specific indications for genetic counseling and prenatal diagnosis testing include a history of chromosome abnormality, Mendelian genetic disorder, or metabolic disorder; increased risk for neural tube defect; abnormal maternal serum screening test; abnormal cell free DNA result; or a fetal anomaly suspected/diagnosed on ultrasound. Successful prenatal diagnosis…

The Human Genome and Neonatal Care

Key Points Twenty percent of infant deaths in the United States and a larger portion of infant deaths in the NICU have been attributed to chromosomal and congenital anomalies, with the prevalence increasing with the expanded use of genetic diagnostic tools. Thousands of individuals have had their entire genomes or exomes sequenced and shared, along with corresponding phenotype information. This comprehensive, linked information enhances our ability…

Risk Assessment and Neurodevelopmental Outcomes

Key Points Preterm and critically ill infants are at high risk for cognitive and motor development problems, neurobehavioral and executive function problems, learning and academic problems, neurosensory problems, and poor functional outcomes. Neonatal morbidities, socioeconomic factors, and early interventions can influence long-term outcomes for high-risk infants. While neurodevelopmental impairment (NDI) at 2 years corrected age is a common outcome in neonatal clinical trials, there is ongoing…