ITEMS IN AFP WITH MESH TERM:
ABSTRACT: The routine newborn assessment should include an examination for size, macrocephaly or microcephaly, changes in skin color, signs of birth trauma, malformations, evidence of respiratory distress, level of arousal, posture, tone, presence of spontaneous movements, and symmetry of movements. A newborn with one anatomic malformation should be evaluated for associated anomalies. Total and direct bilirubin levels should be measured in newborns with jaundice, and a complete blood count should be obtained in those with pallor or a ruddy complexion. Neurosurgical consultation is necessary in infants with craniosynostosis accompanied by restricted brain growth or hydrocephalus, cephaloceles, or exophytic scalp nodules. Neck masses can be identified by their location and include vascular malformations, abnormal lymphatic tissue, teratomas, and dermoid cysts. Most facial nerve palsies resolve spontaneously. Conjunctivitis is relatively common in newborns. Infants with chest abnormalities may need to be evaluated for Poland's syndrome or Turner's syndrome. Murmurs in the immediate newborn period are usually innocent and represent a transition from fetal to neonatal circulation. Because cyanosis is primarily secondary to respiratory or cardiac causes, affected newborns should be evaluated expeditiously, with the involvement of a cardiologist or neonatologist.
ABSTRACT: Glucose-6-phosphate dehydrogenase deficiency, the most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean, or Middle-Eastern descent. Approximately 400 million people are affected worldwide. Homozygotes and heterozygotes can be symptomatic, although the disease typically is more severe in persons who are homozygous for the deficiency. The conversion of nicotinamide adenine dinucleotide phosphate to its reduced form in erythrocytes is the basis of diagnostic testing for the deficiency. This usually is done by fluorescent spot test. Different gene mutations cause different levels of enzyme deficiency, with classes assigned to various degrees of deficiency and disease manifestation. Because acute hemolysis is caused by exposure to an oxidative stressor in the form of an infection, oxidative drug, or fava beans, treatment is geared toward avoidance of these and other stressors. Acute hemolysis is self-limited, but in rare instances it can be severe enough to warrant a blood transfusion. Neonatal hyperbilirubinemia may require treatment with phototherapy or exchange transfusion to prevent kernicterus. The variant that causes chronic hemolysis is uncommon because it is related to sporadic gene mutation rather than the more common inherited gene mutation.
ABSTRACT: Kernicterus and neurologic sequelae caused by severe neonatal hyperbilirubinemia are preventable conditions. A structured and practical approach to the identification and care of infants with jaundice can facilitate prevention, thus decreasing rates of morbidity and mortality. Primary prevention includes ensuring adequate feeding, with breastfed infants having eight to 12 feedings per 24 hours. Secondary prevention is achieved by vigilant monitoring of neonatal jaundice, identifying infants at risk of severe hyperbilirubinemia, and ensuring timely outpatient follow-up within 24 to 72 hours of discharge. Total serum bilirubin or transcutaneous bilirubin levels should be routinely monitored in all newborns, and these measurements must be plotted on a nomogram according to the infant's age in hours. The resultant low-, intermediate-, or high-risk zones, in addition to the infant's risk factors, can guide timing of postdischarge follow-up. Another nomogram that consists of age in hours, risk factors, and total bilirubin levels can provide guidance on when to initiate phototherapy. If the infant requires phototherapy or if the bilirubin level is increasing rapidly, further work-up is indicated.
Hyperbilirubinemia in the Term Newborn - Article
ABSTRACT: Hyperbilirubinemia is one of the most common problems encountered in term newborns. Historically, management guidelines were derived from studies on bilirubin toxicity in infants with hemolytic disease. More recent recommendations support the use of less intensive therapy in healthy term newborns with jaundice. Phototherapy should be instituted when the total serum bilirubin level is at or above 15 mg per dL (257 micromol per L) in infants 25 to 48 hours old, 18 mg per dL (308 micromol per L) in infants 49 to 72 hours old, and 20 mg per dL (342 micromol per L) in infants older than 72 hours. Few term newborns with hyperbilirubinemia have serious underlying pathology. Jaundice is considered pathologic if it presents within the first 24 hours after birth, the total serum bilirubin level rises by more than 5 mg per dL (86 micromol per L) per day or is higher than 17 mg per dL (290 micromol per L), or an infant has signs and symptoms suggestive of serious illness. The management goals are to exclude pathologic causes of hyperbilirubinemia and initiate treatment to prevent bilirubin neurotoxicity.