KEY POINTS 1. The processes leading to duodenal atresia and distal atresia are unknown but reflect a general defect in intestinal development. In the past, duodenal atresia was thought to result from failure of recanalization of the duodenal lumen, but…
KEY POINTS 1. Extracorporeal membrane oxygenation (ECMO) is a potentially life-saving technology for newborns with refractory cardiopulmonary failure of reversible etiology. 2. ECMO involves draining deoxygenated venous blood, extracorporeal oxygenation and removal of carbon dioxide from the blood, and returning…
KEY POINTS 1. Necrotizing enterocolitis (NEC) is a disease of premature infants that results in life-threatening intestinal ischemia and necrosis. 2. Suspect NEC presents in a stable, formula-fed premature neonate who suddenly develops feeding intolerance and abdominal distention. Infants with…
KEY POINTS 1. Chromosomal abnormalities can be numerical abnormalities (aneuploidy), structural anomalies such as copy number variants (microdeletions or duplications), inversions, translocations, and the formation of isochromosomes or ring chromosomes. 2. Sex chromosome abnormalities such as Turner syndrome, triple X…
KEY POINTS 1. Considering and making a genetic diagnosis early can help direct evaluation and management in the newborn, leading to better patient care. 2. Significant renal disease and subsequent pulmonary disease are common in autosomal recessive kidney disease, requiring…
KEY POINTS 1. Birth defects are among the leading causes of morbidity and mortality in children and are present in 3% to 6% of births. 2. The most common birth defects, which account for nearly half of the birth defects…
KEY POINTS 1. Genomic medicine has emerged as a new discipline to analyze the human genome and genetic information as a part of clinical care. 2. There are various types of molecular techniques to detect various genetic variations. Each method…
KEY POINTS 1. Should protein in the diet be limited while waiting for results? No. It is not recommended to change the diet to a specialized diet without confirmation of results. However, if the baby is critically ill, it may…
KEY POINTS 1. Inborn errors of metabolism (IEMs) are inherited conditions that block metabolic pathways. As a group, these conditions could be identified in 1 out of every 1500 infants. 2. We have suspected IEMs in infants during the early…
KEY POINTS 1. Fractures and musculoskeletal infections in neonates follow a distinct pathophysiology. 2. The clavicle is the most frequently injured long bone in newborns; the injury occurs most often during birth. These fractures heal and remodel well. In some…