KEY POINTS 1. Congenital heart disease (CHDs) are seen in 6 to 10 per 1000 live births. These include structural defects of the heart, of the great vessels, or both. 2. During the newborn period, the most important presenting features of CHD are central cyanosis, decreased perfusion to the body, and tachypnea. Cardiac murmurs are frequently heard but have a low sensitivity (44%) and low positive…
KEY POINTS 1. Fungal infections including invasive Candida infections and molds (aspergillosis and mucormycosis) are devastating infections most commonly complicating extreme preterm infants due to their underdeveloped immune system combined with the need for intensive care and any neonate with complex gastrointestinal disease. 2. Dermatologic findings of candidiasis and molds are critical to their prompt diagnosis and correct empiric antifungal selection. Congenital cutaneous candidiasis is an…
KEY POINTS 1. Congenital syphilis is a global public health problem, particularly in the Americas where its incidence appears to be rising. 2. At birth 90% of infants are asymptomatic, the remaining 10% present a wide variety of symptoms from mild to lethal. 3. To confirm the presence of spirochete may be challenging, diagnosis will usually be based on maternal syphilis history, treponemal and non treponemal…
KEY POINTS 1. Cytomegalovirus (CMV) infection is acquired in the postnatal period primarily from mother’s milk feeding. 2. Postnatal CMV (pCMV) infection is usually asymptomatic in healthy term infants. Among very low birth weight (VLBW, birth weight <1500 g) infants, infection occurs in ∼6.5% and is associated with a sepsis-like syndrome in ∼1% but is rarely fatal. 3. Symptomatic pCMV infection is associated with lower gestation,…
KEY POINTS 1. Neonatal herpes simplex virus (HSV) infections can cause potentially devastating infections in newborn infants. 2. HSV has a double-stranded linear DNA genome and is seen in two variants, HSV-type 1 and HSV-type 2. 3. Neonatal HSV infections occur in three patterns: prenatal, perinatal, and postnatal. Perinatal infections are most common and are associated with serious morbidity and mortality. 4. HSV infections can be…
KEY POINTS 1. Late-onset sepsis in the neonatal intensive care unit is defined by culture-confirmed infection ≥72 hours after birth. 2. Incidence is highest among preterm infants. 3. The pathophysiology involves colonization with perinatally and/or hospital-acquired organisms, with transition to invasive infection promoted by hospital devices and immature mucosa. 4. Risk factors include prematurity, presence of a central venous catheter, prolonged parenteral nutrition, and lack of…
KEY POINTS 1. Early-onset sepsis (EOS) is defined by blood and/or cerebrospinal fluid culture-confirmed infection occurring 0 to 6 days after birth. 2. Incidence is highest among preterm infants, particularly those born with low gestational ages and with birth weight <1500 g. 3. Pathogenesis commonly involves ascending colonization of the uterine compartment with maternal flora, with subsequent colonization of the fetus and transition to invasive infection…
KEY POINTS 1. Disorders of sex development (DSD) is an umbrella term referring to the large collection of conditions in which establishment of chromosomal, gonadal, or anatomic sex development is atypical. 2. Estimates of the prevalence of DSD vary widely, but it is likely 1 in 5000 to 6000 in the general population. 3. The genetic regulation of sex determination and differentiation involves a complex cascade…
KEY POINTS 1. Disorders of mineral homeostasis in the neonatal period are often exaggerated responses to the normal physiologic transition. Parathyroid hormone (PTH) is the principal regulator of postnatal calcium metabolism, with vitamin D and its metabolites involved in the regulation of serum calcium levels. 2. Neonatal hypercalcemia is uncommon and often asymptomatic; calcium concentrations need to be interpreted based on age-related norms, which are higher…
KEY POINTS 1. Normal hypothalamic-pituitary-adrenal (HPA) axis production of cortisol and a normal renin-angiotensin-aldosterone axis are needed for the normal regulation of volume status, blood pressure, and serum sodium, potassium and glucose levels in the neonate. Disorders of these axes can be life-threatening. 2. Cortisol deficiency can be due to a disorder of the adrenal gland itself or to impaired ACTH secretion from the pituitary gland.…
KEY POINTS 1. Thyroid hormone signaling is required for both normal fetal and pediatric development. 2. The identification of genes critical for thyroid gland development and migration and thyroid hormone metabolism, transport, and receptor function has revealed that derangement of local thyroid hormone signaling can impact development, even in the absence of primary thyroid disease. 3. The goal of thyroid hormone replacement in neonates is to…
KEY POINTS 1. Congenital pituitary hormone deficiencies can be caused by maldevelopment of central brain structures, acute injury, and pituitary gene mutation. 2. The anterior pituitary is composed of four distinct cell types that produce five different hormones. 3. Understanding the role of each of these hormones allows more timely diagnosis of pituitary hormone deficiencies. 4. Treatment is typically replacement of missing hormones and can be…
KEY POINTS 1. Diabetes in pregnant women can be visualized in two distinct subsets: 1% to 2% of women have pregestational disease, whereas 6% to 9% develop diabetes during pregnancy. 2. In mothers with pregestational or early-onset diabetes, placental vasculopathy may cause growth restriction, altered organogenesis, and congenital anomalies. 3. In mothers with gestational diabetes, the fetuses tend to become large for date, show a wide…
KEY POINTS 1. Hypoglycemia is frequently seen in premature and critically ill term infants. 2. Neonates are at risk of hypoglycemia in the early neonatal period because of the abrupt interruption of maternal glucose transfer to the baby at birth, imposing a need for independent regulation of plasma glucose concentrations by adjusting insulin secretion and mobilizing counterregulatory responses. 3. Many neonates experience a transitional period of…
KEY POINTS 1. All infants should be classified at birth with the use of appropriate anthropometric measurement techniques to determine risk status for complications such as hypoglycemia or catabolism. Growth charts and tools to determine z -scores are readily available and should be used. 2. Hospitalized infants are at higher risk for growth impairment, so patterns on a growth chart and growth velocity throughout hospitalization should…
KEY POINTS 1. Intestinal failure (IF) is defined as the loss of functional gut mass to levels below those needed for digestion and absorption of fluid and nutrients required to support adequate nutrition and growth. 2. Short bowel syndrome (SBS) is a subtype of IF that occurs due to the anatomic loss of a part of the intestines. 3. Gastroschisis and necrotizing enterocolitis (NEC) are the…
KEY POINTS 1. Parenteral nutrition is a necessary component of the nutritional and medical management of the premature infant. 2. The fluid, macronutrient, and micronutrient requirements are unique to the premature infant due to their transition from the intrauterine to extrauterine environment, critically ill status, and lack of nutrient stores. 3. Understanding how to properly calculate a premature infant’s parenteral nutrition requirements is critical to ensure…
KEY POINTS 1. The benefits of enteral nutrition for the preterm infant extend beyond growth and encompass gastrointestinal development and gut inflammatory balance. 2. Preterm infant intake of mother’s milk, including oral immune therapy, is associated with improved outcomes. 3. Pasteurized donor human milk is the preferred feeding supplement when mother’s milk is contraindicated or unavailable and is associated with less necrotizing enterocolitis compared with formula.…
KEY POINTS 1. Probiotics are live microorganisms that, when consumed in adequate amounts by an adult host, are believed to and in many instances have been shown to confer health benefits. 2. The best-known probiotics belong to the genera Bifidobacteria , Lactobacillus , and Saccharomyces . 3. Extensive clinical evidence indicates that probiotics can reduce the risk of necrotizing enterocolitis (NEC) and late-onset sepsis in term…
KEY POINTS 1. Human milk is an important source of nutrients, immunologic factors, and pre- and probiotic factors for preterm and critically ill infants for up to 6 months after birth. 2. Human milk has positive effects on enhanced maturation of vital organs such as the brain and gastrointestinal system and on immunity, and it is also known to protect at-risk infants against neonatal morbidities such…