Screening Tests for Newborns

Screening recommendations for newborns vary by clinical context and regulatory requirements. In the United States, the Health Resources & Services Administration recommends screening for all disorders included in the Recommended Uniform Screening Panel.

Blood typing is indicated when the mother has type O or Rh-negative blood or when minor blood antigens are present, because hemolytic disease of the newborn Hemolytic Disease of the Fetus and Neonate Hemolytic disease of the fetus and neonate is hemolytic anemia in the fetus (or neonate, as erythroblastosis neonatorum) caused by transplacental transmission of maternal antibodies to fetal... read more is a risk.

All neonates are evaluated for jaundice throughout the hospital stay and before discharge Hospital Discharge of the Newborn While in the hospital, new parents should be taught how to feed, bathe, and dress their newborn and become familiar with the newborn's activities, cues, and sounds. Before hospital discharge... read more . The risk of hyperbilirubinemia Neonatal Hyperbilirubinemia Jaundice is a yellow discoloration of the skin and eyes caused by hyperbilirubinemia (elevated serum bilirubin concentration). The serum bilirubin level required to cause jaundice varies with... read more is assessed using risk criteria, measurement of bilirubin, or both. Bilirubin can be measured transcutaneously or in serum. Many hospitals screen all neonates and use a predictive nomogram to determine the risk of extreme hyperbilirubinemia. Follow-up is based on age at discharge, predischarge bilirubin level and/or rate of bilirubin rise from one determination to another, and risk of developing jaundice.

Many government organizations require testing for specific inherited diseases Introduction to Inherited Disorders of Metabolism Most inherited disorders of metabolism (also called inborn errors of metabolism) are caused by mutations in genes that code for enzymes; enzyme deficiency or inactivity leads to Accumulation... read more , including phenylketonuria Phenylketonuria (PKU) Phenylketonuria is a disorder of amino acid metabolism that causes a clinical syndrome of intellectual disability with cognitive and behavioral abnormalities caused by elevated serum phenylalanine... read more , tyrosinemia Tyrosine Metabolism Disorders Tyrosine is an amino acid that is a precursor of several neurotransmitters (eg, dopamine, norepinephrine, epinephrine), hormones (eg, thyroxine), and melanin; deficiencies of enzymes involved... read more , biotinidase deficiency, homocystinuria Classic homocystinuria A number of defects in methionine metabolism lead to accumulation of homocysteine (and its dimer, homocystine) with adverse effects including thrombotic tendency, lens dislocation, and central... read more , maple syrup urine disease Maple syrup urine disease Valine, leucine, and isoleucine are branched-chain amino acids; deficiency of enzymes involved in their metabolism leads to accumulation of organic acids with severe metabolic acidosis. There... read more , galactosemia Galactosemia Galactosemia is a carbohydrate metabolism disorder caused by inherited deficiencies in enzymes that convert galactose to glucose. Symptoms and signs include hepatic and renal dysfunction, cognitive... read more , congenital adrenal hyperplasia Overview of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, aldosterone, or both. In the most common forms, accumulated hormone precursors... read more , sickle cell disease Sickle Cell Disease Sickle cell disease (a hemoglobinopathy) causes a chronic hemolytic anemia occurring almost exclusively in people with African ancestry. It is caused by homozygous inheritance of genes for hemoglobin... read more , and hypothyroidism Hypothyroidism in Infants and Children Hypothyroidism is thyroid hormone deficiency. Symptoms in infants include poor feeding and growth failure; symptoms in older children and adolescents are similar to those of adults but also... read more . Some organizations also include testing for cystic fibrosis Cystic Fibrosis Cystic fibrosis is an inherited disease of the exocrine glands affecting primarily the gastrointestinal and respiratory systems. It leads to chronic lung disease, exocrine pancreatic insufficiency... read more , disorders of fatty acid oxidation Overview of Fatty Acid and Glycerol Metabolism Disorders Fatty acids are the preferred energy source for the heart and an important energy source for skeletal muscle during prolonged exertion. Also, during fasting, the bulk of the body’s energy needs... read more , other organic acidemias, severe combined immunodeficiency Severe Combined Immunodeficiency (SCID) Severe combined immunodeficiency is characterized by low to absent T cells and a low, high, or normal number of B cells and natural killer cells. Most infants develop opportunistic infections... read more , spinal muscular atrophy, and some lysosomal disorders (eg, mucopolysaccharidoses Mucopolysaccharidoses (MPS) Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. Inherited defects... read more , ).

HIV screening is required by some government organizations and is indicated for children of mothers known to be HIV-positive or those engaging in HIV high-risk behaviors.

Toxicology screening is indicated when any of the following are present: maternal history of drug use Drug Safety in Pregnancy Medications may be required for various indications during pregnancy. The most commonly used medications include antiemetics, antacids, antihistamines, analgesics, antimicrobials, diuretics... read more , unexplained placental abruption Placental Abruption (Abruptio Placentae) Placental abruption (abruptio placentae) is premature separation of the placenta from the uterus, usually after 20 weeks gestation. It can be an obstetric emergency. Manifestations may include... read more , unexplained premature labor Preterm Labor Labor (contractions resulting in cervical change) that begins before 37 weeks gestation is considered preterm. Risk factors include prelabor rupture of membranes, uterine abnormalities, infection... read more , poor prenatal care, or evidence of drug withdrawal in the neonate Prenatal Drug Exposure Alcohol and illicit drugs are toxic to the placenta and developing fetus and can cause congenital syndromes and withdrawal symptoms. Prescription drugs also may have adverse effects on the fetus... read more .

Screening for critical congenital heart disease (CCHD) using pulse oximetry is part of routine newborn assessment. Previously, newborns were screened for CCHD by prenatal ultrasonography and by physical examination, but this approach failed to identify many cases of CCHD, which led to increased morbidity and mortality. The screening is done when infants are ≥ 24 hours old and is considered positive if

Any infant with a positive screen should have additional testing, including chest x-ray, electrocardiography, and echocardiography. The infant’s pediatrician should be notified, and the infant may need to be evaluated by a cardiologist.

Hearing screening varies by state. Hearing loss Hearing Impairment in Children Common causes of hearing loss are genetic defects in neonates and ear infections and cerumen in children. Many cases are detected by screening, but hearing loss should be suspected if children... read more is one of the most frequently occurring birth defects. About 2 to 3/1000 infants are born with moderate, profound, or severe hearing loss (1 Reference Screening recommendations for newborns vary by clinical context and regulatory requirements. In the United States, the Health Resources & Services Administration recommends screening for all... read more ). Hearing loss is even more common among infants admitted to an intensive care unit at birth. Currently, some government organizations screen only high-risk neonates (se table ); others screen all neonates. Initial screening often involves using a handheld device to test for echoes produced by healthy ears in response to soft clicks (otoacoustic emissions); if this test is abnormal, auditory brain stem response (ABR) testing is done. Some institutions use ABR testing as an initial screening test. Further testing by an audiologist may be needed.