Newborn and Anemia Screening Overview

Newborn Screening Laboratory Tests

• Every state mandates serologic screening for inborn errors of metabolism in newborns, preferably within 2-3 days of birth.
• A website, Baby's First Test, offers unbiased information on mandated screening requirements by state.
• Common conditions screened for include hypothyroidism, phenylketonuria, maple syrup urine disease, congenital adrenal hyperplasia, and cystic fibrosis.
• Newborn screening for hearing loss is recommended (level B recommendation by the USPSTF).
• Screening for chronic bilirubin encephalopathy is deemed insufficient evidence (level I) by the USPSTF.
• Transcutaneous bilirubin measurement is used.

Anemia Screening

• The AAP recommends anemia screening with finger stick hemoglobin/hematocrit at 12 months.
• Although the USPSTF recommends supplementing iron intake for children age 6-12 months, iron deficiency screening is level I.
• Repeat screenings are advised for toddlers (about 9% prevalence) with potential risk factors.
• Screening for anemia involves measuring hemoglobin/hematocrit, assessing dietary iron intake, and potentially a therapeutic trial of iron if positive.
• Pregnant adolescents should also be screened for anemia.
• Thalassemia minor and sickle cell screening are important diagnostic considerations, especially in African American children.

Commonly Screened Newborn Diseases

• Congenital hypothyroidism: incidence of 1 in 4000 live births.
• Duchenne muscular dystrophy: incidence of 1 in 4500 live births.
• Congenital adrenal hyperplasia: incidence of 1 in 10,000-18,000 live births.
• Phenylketonuria: incidence of 1 in 14,000 live births.
• Galactosemia: incidence of 1 in 130,000 live births.
• Cystic fibrosis: incidence of 1 in 44,000 to 80,000 (population-dependent).
• Biotinidase deficiency: incidence of 1 in 60,000 live births.

Lead Screening

• The AAP recommends universal lead screening at 12 and 24 months.
• High lead levels in water sources support this recommendation.
• Children at high risk (e.g., exposure to chipping paint, existing lead exposure) should be screened at 6 months.
• Risk factors for lead exposure include older housing, industrial settings, and lead piping in water systems.

Tuberculosis Screening

• PPD (purified protein derivative) screening is offered to high-risk children (contact with TB, endemic countries).
• Routine testing of children without risk factors isn't recommended.
• Children with relevant factors, history of TB contact, or suspected infection (imaging, clinical symptoms) should be screened at 6 months, 1 year, 4-6 years, and 11-12 years.

HIV Screening

• Annual PPD testing (purified protein derivative) for HIV-infected children.
• Children at risk for HIV exposure (high-risk adults) require retesting every 2-3 years.
• The AAP recommends an HIV test for all 20-year-olds.

Dyslipidemia Screening

• The AAP recommends universal dyslipidemia screening at ages 10 and 20.
• Cholesterol levels can be tested at age 2 years if family history is present, including those with parents or grandparents who experienced early-onset cardiovascular disease.
• Screening is indicated when a family history or parental cholesterol levels (~240 mg/dL) or if the low-density lipoprotein cholesterol level exceeds ~130 mg/dL.

Explore essential guidelines and tests for newborn screening, focusing on inborn errors of metabolism and anemia requirements. This quiz covers common conditions screened in infants and recommendations for monitoring iron levels. Test your knowledge of state mandates and practices.