Screening Tests for Newborns

Screening recommendations for newborns vary by clinical context and country or local regulatory requirements. In the United States, the Health Resources & Services Administration recommends screening for all disorders included in the Recommended Uniform Screening Panel (1, 2).

Recommendations vary by the specific inherited diseases tested for with blood spot newborn screening (3, 4); they may include phenylketonuria, tyrosinemia, biotinidase deficiency, homocystinuria, maple syrup urine disease, galactosemia, congenital adrenal hyperplasia, sickle cell disease, and hypothyroidism. Some recommendations also include testing for cystic fibrosis, disorders of fatty acid oxidation, other organic acidemias, severe combined immunodeficiency, spinal muscular atrophy, some lysosomal disorders (eg, mucopolysaccharidoses, and Pompe disease).

Blood typing, and sometimes a direct antibody test (DAT, or Coomb test), may be indicated when the mother has Rh-negative or type O blood, or when other blood antibodies are present, because hemolytic disease of the newborn (isoimmune hemolytic anemia) is a risk (5). Mothers are typically screened for antibodies and potential blood group incompatibility during pregnancy. Testing the newborn is necessary if such screening has not been performed; if maternal antibody screening was positive; or if the newborn develops early (<24 hours of life) or rapidly progressive jaundice, which may indicate hemolytic anemia.

Screening for Isoimmune Hemolytic Anemia in the Newborn

DAT = direct antiglobulin test; IVIG = intravenous immune globulin; RhIG = Rh(D) immunoglobulin; TcB = transcutaneous bilirubin; TSB = total serum bilirubin. Data from Kemper AR, Newman TB, Slaughter JL, et al. Clinical Practice Guideline Revision: Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation. Pediatrics. 2022;150(3):e2022058859. doi:10.1542/peds.2022-058859.

All neonates are evaluated for jaundice throughout the hospital stay and before discharge. The risk of hyperbilirubinemia 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 (5). Follow-up is based on age in hours at discharge, predischarge bilirubin level and/or rate of bilirubin rise from one determination to another, and risk of developing jaundice.

Infants born to mothers known to be HIV-positive should be tested for HIV with nucleic acid amplification testing, within the first few days if maternal antiretroviral therapy was not provided during pregnancy and at later time intervals for presumptive and definitive exclusion or diagnosis of HIV infection, and for infants who are consuming breast milk from an HIV-positive mother (6, 7). (Prevention of perinatal transmission of HIV is discussed separately.)

Toxicology screening is indicated when any of the following are present: maternal history of drug use, unexplained placental abruption, unexplained premature labor, or evidence of drug withdrawal in the neonate.Toxicology screening should be performed only when it will inform clinical management, and should be governed by standardized policies to reduce the risk of bias in testing (8, 9).

Screening for critical congenital heart disease (CCHD) using pulse oximetry is part of routine newborn assessment. The screening is performed when infants are ≥ 24 hours old, without supplemental oxygen, and is considered failed if (10):

• Any oxygen saturation measurement in the right hand or either foot is < 90%.

• An oxygen saturation measurement in the right hand or either foot is < 95%, or there is > 3% absolute difference between the oxygen saturation in the right hand (preductal) and either foot (postductal), on 2 separate measurements taken 1 hour apart.

Any infant with a failed screen should have additional testing, including echocardiography and sometimes a chest radiograph and/or electrocardiography. The infant’s pediatrician should be notified, and the infant may need to be evaluated by a cardiologist.

Newborn Screening for Critical Congenital Heart Disease Using Pulse Oximetry

Pulse ox = pulse oximetry. Data from Oster ME, Pinto NM, Pramanik AK, et al. Newborn Screening for Critical Congenital Heart Disease: A New Algorithm and Other Updated Recommendations: Clinical Report. Pediatrics. 2025;155(1):e2024069667. doi:10.1542/peds.2024-069667.

Hearing screening varies by state. Hearing loss is one of the most frequently occurring birth defects. Approximately 2 to 3/1000 infants are born with moderate, profound, or severe hearing loss (11, 12). Hearing loss is approximately 7 times more common among infants admitted to an intensive care unit at birth (13). Currently, hearing screening is performed in the first month of life for all infants born in the United States (14, 15). Some government organizations screen only high-risk neonates (see table Risk Factors for Hearing Deficits in Neonates); 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 performed. Some institutions use ABR testing as an initial screening test. Further testing by an audiologist may be needed.

Newborn Hearing Screening

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