S-hemoglobin Sickle cell disease, sickle cell trait Hemoglobin electrophoresis
Trypsinogen Cystic fibrosis, transient, intestinal anomalies, perinatal Repeat blood specimen, possible sweat test stress, trisomies 13 and 18, renal failure and DNA testing
Creatinine phosphokinase Duchenne muscular dystrophy, other type of muscular Repeat blood test dystrophy, birth trauma, invasive procedure
Biotinidase Biotinidase deficiency Serum biotinidase assay, biotin therapy
G6PD G6PD deficiency Complete blood count, bilirubin determination
HIV antibody (IgG) Maternally transmitted HIV, possible AIDS Infectious disease consultation
From Kim SZ, Levy HL: Newborn screening. In Taeusch HW, Ballard RA, editors: Avery’s Diseases of the Newborn, ed 7, Philadelphia, 1998, Saunders.
AIDS, Acquired immunodeficiency syndrome; G6PD, glucose-6-phosphate dehydrogenase; HIV, human immunodeficiency virus; ICU, intensive care unit; PKU, phenylketonuria; T4, thyroxine; TSH, thyroid-stimulating hormone.
Table 58-6 Effects of Asphyxia SYSTEM EFFECT Central nervous system Hypoxic-ischemic encephalopathy, IVH, PVL, cerebral edema, seizures, hypotonia, hypertonia Cardiovascular Myocardial ischemia, poor contractility, tricuspid insufficiency, hypotension
Pulmonary Persistent pulmonary hypertension, respiratory distress syndrome
Gastrointestinal Perforation, ulceration, necrosis
Metabolic Inappropriate ADH, hyponatremia, hypoglycemia, hypocalcemia, myoglobinuria
ADH, Antidiuretic hormone; IVH, intraventricular hemorrhage; PVL, periventricular leukomalacia.
Table 58-7 Etiology of Birth Asphyxia TYPE EXAMPLE INTRAUTERINE Hypoxia-ischemia Uteroplacental insufficiency, abruptio placentae, prolapsed cord, maternal hypotension, unknown
Anemia-shock Vasa previa, placenta previa, fetomaternal hemorrhage, erythroblastosis
Birth trauma Cephalopelvic disproportion, shoulder dystocia, breech presentation, spinal cord transection
Hypoxia-ischemia Umbilical cord compression, tetanic contraction, abruptio placentae POSTPARTUM
Central nervous system Maternal medication, trauma, previous episodes of fetal hypoxia-acidosis
Congenital neuromuscular disease Congenital myasthenia gravis, myopathy, myotonic dystrophy
Infection Consolidated pneumonia, shock
Airway disorder Choanal atresia, severe obstructing goiter or tumor, laryngeal webs
Pulmonary disorder Severe immaturity, pneumothorax, pleural effusion, diaphragmatic hernia, pulmonary hypoplasia
Renal disorder Pulmonary hypoplasia, pneumothorax
Fetal conditions associated with asphyxia usually do not become manifested until delivery, when the infant must initiate and sustain ventilation. In addition, the upper and lower airways must be patent and unobstructed. Alveoli must be free from foreign material, such as meconium, amniotic fluid debris, and infectious exudates, which increases airway resistance, reduces lung compliance, and leads to respiratory distress and hypoxia. Some extremely immature infants weighing less than 1000 g at birth may be unable to expand their lungs, even in the absence of other pathology. Their compliant chest walls and surfactant deficiency may result in poor air exchange, retractions, hypoxia, and apnea.