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Caring for Families Who Have Previously Endured Multiple Perinatal Losses

KEY POINTS 1. Parents with a history of multiple previous fetal/neonatal losses may find it difficult to care for a critically ill newborn infant. The fear of losing yet another child can be heartrending and traumatic. 2. An individual’s fundamental beliefs about themselves and their future children are not only disrupted by a pregnancy loss or undesirable perinatal diagnosis, but are often accompanied by psychological sequelae.…

Esophageal Surgery in Neonates: Esophageal Atresia, Gastroesophageal Reflux, and Other Congenital Anomalies

KEY POINTS 1. Esophageal surgery in neonates includes the treatment of esophageal atresia, gastroesophageal reflux, congenital esophageal stenosis, esophageal duplication, and vascular rings. 2. Esophageal atresia, with or without tracheoesophageal atresia, is the most common congenital anomaly of the esophagus, occurring in 1 in 3500 live births. 3. The surgical treatment of esophageal atresia has undergone several advances including the introduction of thoracoscopic repair. 4. Management…

Congenital Anorectal Malformations and Hirschsprung Disease in the Neonate

KEY POINTS 1. Congenital anorectal malformations and Hirschsprung disease present in neonates with symptoms of distal intestinal obstruction and distal gastrointestinal tract dysmotility. 2. Anorectal malformations are a congenital group of disorders that occur when the hindgut fails to develop in the appropriate anatomic position and with appropriate caliber. These malformations are associated with problems of fecal incontinence. 3. Hirschsprung disease is a congenital disorder of…

Pulmonary Surgery inthe Newborn

KEY POINTS 1. Neonatal respiratory disease that requires surgery can have devastating consequences. Care for patients with these conditions involves a multidisciplinary team including neonatologists, pediatric surgeons, nurses, and respiratory therapists. 2. These surgical respiratory defects include upper airway stenosis, laryngomalacia and tracheomalacia, congenital lung lesions, and the congenital defects of the diaphragm. 3. Stridor is the most characteristic finding of upper respiratory obstructions. Acute obstruction…

Intestinal Surgery in the Newborn—Atresias, Volvulus, and Everything Else

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 there is little basis to support this theory. In animals, vascular occlusion causes intestinal changes that look similar to intestinal atresia, but there is little evidence…

Extracorporeal Membrane Oxygenation in Neonates

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 the blood via an infusion cannula either into a vein or artery. 3. Cannulation can either be peripheral, via the neck or femoral vessels, or centrally,…

Necrotizing Enterocolitis

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 suspected disease have abdominal distention, bilious emesis, and bloody stools but no specific radiographic features of NEC. Some of these infants may have temperature instability, apnea,…

Common Chromosomal Conditions in Newborns

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 syndrome, and Klinefelter syndrome have been studied. 3. The most common prenatally diagnosed aneuploidies include trisomy 13, trisomy 18, and trisomy 21. Trisomy 13 and 18…

Common Monogenetic Conditions in Newborns

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 supportive care. 3. Newborns with achondroplasia should have specific imaging and studies to decrease the risk of neurocervical junction compromise. 4. RASopathies should be considered in…

Genetics of Common Birth Defects in Newborns

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 in the United States, are congenital heart disease, neural tube defects, oral facial clefts, and hypospadias. 3. Causes of birth defects include genetic causes such as…

An Overview of GeneticTesting

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 has unique strengths and limitations, from conventional karyotyping to genome sequencing. 3. Clinicians needs to understand the limitations of the methods used in genetic testing to…

Screening Programs for EarlyDetection of Inborn Errors ofMetabolism in Neonates

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 be recommended to stop feeds due to instability. It is not recommended to stop all protein for more than 24 to 48 hours in patients with…

Most Frequently Encountered Inborn Errors of Metabolism

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 neonatal period if they have progressively worsening encephalopathy with lethargy, seizures, or coma that cannot be explained as due to asphyxia or infections; unexplained severe high…

Fractures and Musculoskeletal Infections in the Neonate

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 infants, congenital pseudoarthrosis of the clavicle may need to be differentiated from fractures. 3. The humerus is the second most common long bone to be fractured…

Hip and Lower Extremity Deformities

KEY POINTS 1. Early diagnosis of abnormalities in the lower extremities is important for normal musculoskeletal and neurologic development. 2. Developmental dysplasia of the hip starts early in the embryonic period and continues after birth. It includes a range of abnormalities including acetabular dysplasia with deficient development of the acetabulum, subluxation with displacement but some maintained contact between the femoral head and acetabulum, and complete dislocation…

Newborn Spine Deformities

KEY POINTS 1. Spina bifida usually can be diagnosed prenatally with screening and in the early neonatal period by physical exam. Early diagnosis and intervention may improve outcomes. 2. Assessment of vertebral anomalies is best done in early childhood. The first available film should be analyzed and used for subsequent comparisons. 3. Associated anomalies occur with neonatal spine disorders. Additional tests other than those that serve…

Upper Extremity Conditionsin the Neonate

KEY POINTS 1. Congenital upper extremity differences are relatively rare but numerous and complex in nature. 2. Refer to a pediatric hand surgeon for management if an upper extremity congenital anomaly is suspected. 3. Some of the relatively more common conditions include syndactyly, polydactyly, and radial longitudinal deficiency or thumb hypoplasia. 4. Diagnosis is usually made based on clinical examination; however, further investigation may be warranted…

Nasal Obstruction in Newborn Infants

KEY POINTS 1. Nasal obstruction in neonates can cause respiratory distress and feeding difficulty, as newborns rely heavily on nasal breathing. 2. Mild cases of nasal obstruction can be observed, but severe obstructive lesions can be life-threatening and usually require early surgical intervention. 3. Further workup may be needed to identify any associated conditions and syndromes. 4. Neonatal rhinitis may respond to short-term intranasal corticosteroid treatment.…

Congenital Hearing Loss Seen in Neonates

KEY POINTS 1. All newborns must have a hearing screen by the age of 1 month, a diagnostic audiologic test at 3 months if they do not pass their hearing screen, and a referral for early intervention by 6 months if they are diagnosed with hearing loss. 2. Genetic factors are the most common causes of hearing loss, accounting for approximately 65% of congenital sensorineural hearing…

Pierre-Robin Sequence/Cleft Palate-Related Airway Obstruction Seen in Neonates

KEY POINTS 1. Pierre Robin sequence (PRS) is an association of congenital micrognathia, glossoptosis, and cleft palate that presents with tongue-based airway obstruction. 2. Infants with PRS can present with a host of findings ranging from severe respiratory distress to mild feeding difficulties. 3. Evaluation of an infant found to have PRS should include direct visualization of the airway with flexible laryngoscopy, assessment of adjunctive measures…