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Neurodevelopmental Impairment in Specific Neonatal Disorders

KEY POINTS 1. Neonatal intensive care unit graduates are at risk of neurodevelopmental impairment (NDI). 2. NDI can occur in cognitive, motor, vision, hearing, or language domains and can seriously impair the child's social, academic, and behavioral functioning. 3. Periventricular white matter injury is the leading cause of long-term NDI, especially motor impairment in preterm infants. 4. Infants with hypoxic-ischemic encephalopathy, bronchopulmonary dysplasia, necrotizing enterocolitis, intraventricular…

Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants

KEY POINTS 1. Nearly half of all very low birth weight infants may have had brain injury due to hypoxia-ischemia, arterial ischemic stroke(s), inflammation, infection, and intraventricular hemorrhages (IVHs). 2. Neuroimaging is increasingly seen in a “biomarker-like role,” where it can add to the information to develop and tailor the clinical developmental screening programs. Cranial ultrasound has been the modality of first choice to screen for…

Early Detection of Cerebral Palsy

Key Points 1. Cerebral Palsy (CP) originates from an injury or abnormality in the developing brain, resulting in abnormal muscle tone, and consequently, in altered movement, posture, and motor function. 2. Tools used to accurately detect CP in the first year of life include a combination of Prechtl General Movement Assessment (GMA), clinical history, standardized neurological exam, brain imaging, and an assessment of motor function. 3.…

Early Diagnosis and Intervention—On Neonatal Follow-Up

KEY POINTS 1. The care of a sick infant must continue into childhood, and families must be guided just as diligently after discharge as they were during intensive care. 2. A continuum of care after discharge, involving dedicated multidisciplinary teams, is important for early intervention and meticulous follow-up. 3. During developmental surveillance, uniform application of one well-validated tool is important for consistency in early intervention and/or…

Early Diagnosis and Intervention in Neonatal Intensive Care Units

KEY POINTS 1. Most infants who develop neurodevelopmental disability (NDD) are normal on examination at birth. 2. Surveillance for NDD must start with neurologic examination in the neonatal intensive care unit and continue through childhood, because early diagnosis and intervention may be beneficial. 3. A tailored care plan should guide healthcare professionals and parents to best practices that support intact outcomes from birth to childhood. 4.…

Palliative Care Family Support in Neonatology

KEY POINTS 1. Neonatal intensive care unit (NICU) admission rates have increased over time, with a consequent increase in the number of extremely premature and critically ill infants who are at risk of chronic illness and mortality. 2. The death of an infant is one of the most devastating and difficult experiences in life. Parents of seriously ill infants bear many roles such as caregiver, advocate,…

Pain and Symptom Management in Newborns Receiving Palliative and End-of-Life Care

KEY POINTS 1. Perinatal palliative care is specialized medical care for fetuses/infants with life-threatening or terminal conditions, with the goal of providing equitable and effective support for curative, life-prolonging, and palliative care for patients and their families. 2. Perinatal hospice may include care of infants diagnosed with a serious medical condition in a physical inpatient setting or at home. 3. Perinatal palliative care is a difficult…

Serious Communication in the Neonatal Intensive Care Unit: Evidence for Strategies and Training

KEY POINTS 1. With a high incidence of morbidity and mortality, the care of critically ill newborns brings unique complexities in communication between the care providers and families. 2. Because newborns cannot make their wishes known, surrogates, generally parents, collaborate with physicians to determine appropriate goals of care. These decisions entail discussions of sophisticated information about the disease process, available therapies, known risks and outcomes, and…

Current State of Perinatal Palliative Care: Clinical Practice, Training, and Research

KEY POINTS 1. Perinatal palliative care (PPC) programs are increasing across the U.S. These services exist in a wide variety of settings from health care institutions to community- or faith-based organizations, have varying levels of ability and comfort in providing PPC for different clinical scenarios and levels of diagnostic certainty, and varying access to multi-disciplinary specialists and variable missions and visions of the program. 2. PPC…

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…