Congenital Heart Disease (CHD) –CHD is the most common birth defect. Infants with CHD have abnormal structure to their heart which creates unusual blood flow patterns. Pulse oximetry, or “pulse ox,” is a simple test that is used to measure the percent oxygen saturation of hemoglobin in the arterial blood and the pulse rate.
Sickle Cell Disease—This is an inherited blood disease in which red blood cells stretch into abnormal “sickle” shapes and can cause episodes of pain, damage to vital organs like the lungs and kidneys. Studies show that newborn screening can alert doctors to begin antibiotic treatment before infections occur and to monitor symptoms. The screening test can also detect other disorders affecting hemoglobin (the oxygen-carrying substance in the blood).
Hearing Screening—Most, but not all states require newborns’ hearing to be screened before they are discharged from the hospital. If the baby isn’t screened at birth, then it’s important to do so within their first three weeks. Children develop critical speaking and language skills in the first few years of life, and if a hearing loss is caught early, doctors can treat it so that it doesn't interfere with that development.
Cystic Fibrosis—Cystic fibrosis is an inherited disorder expressed in the various organs that causes cells to release a thick mucus, which could lead to many other problems like poor growth and chronic respiratory disease. Detecting the disease early may help doctors reduce the lung and nutritional problems associated with cystic fibrosis, but the real impact of newborn screening is yet to be determined.
Toxoplasmosis—This is a parasitic infection that can be transmitted through the mother’s placenta to an unborn child. The benefit of early detection and treatment is uncertain. (Sources:seattlechildrens.org and childrensnational.org/pulseox/faq.aspx)