Certain tests are conducted on newborns aimed at early detection of metabolic and genetic disorder. Early detection of medical conditions enables quick interventions thus preventing life-threatening conditions and permanent disability. Newborn screen is at times referred to as phenylketonuria (PKU test) – owing to the condition first screened for in newborns
Value of Newborn Screening
Besides being mandatory for all newborn in Illinois to be subjected to newborn screening as stipulated by law, Women’s Aid Center explains that screening enables your health practitioner to detect metabolic or genetic defects early and hence initiate early corrective treatment. But, not all conditions that the newborn screening will identify are treatable. Sickle cell and hypothyroidism are a case in point. Nevertheless, early detection of the aforesaid conditions facilitates clinical management and prevention of organ damage and infections.
Newborn Screening expectations
Screening procedure generally involves the following:
- Blood tests: conducted to screen for metabolic and genetic conditions. Blood samples will be drawn from your child’s heel.
- Hearing test: a painless non-invasive test that uses microphone and earpiece to test for hearing loss.
- Critical congenital heart defects screen: using an oximeter, your doctor will be in a position to determine oxygen level in your child’s limbs. Consequently, have an indicator of the health status of your child’s heart.
- Upon the directions of your doctor, additional tests may be conducted on your baby before you are discharged. For example, for the screening of Developmental dysplasia of the hip (a type of hip deformity), your doctor may request for a hip ultrasound to be conducted in one of the Chicago’s imaging centers.
A screen test is not a confirmatory test for a given disease. They form the basis for future diagnostic tests for a given condition. Screen test results will be shared with you once they are ready under the guidance of your practitioner.
Newborn screening is vital for the detection and initiation of early treatment of certain medical conditions. Although not all treatments are curable, clinical management is greatly improved upon early detection.