Newborn genetic screening is a test that checks a baby's blood for a number of genetic disorders. The goal of the test is to identify babies with these disorders early so that they can receive treatment as soon as possible.
The test is done by taking a small blood sample from the baby's heel. The blood sample is then sent to a laboratory where it is tested for a number of different genetic disorders. The most common disorders that are screened for include:
Phenylketonuria (PKU)
Sickle cell disease
Congenital hypothyroidism
Tay-Sachs disease
Cystic fibrosis
If a baby is found to have one of these disorders, the parents will be notified and the baby will be referred to a specialist for treatment. Treatment for these disorders can vary depending on the specific disorder, but it can often include medication, dietary changes, or surgery.
Newborn genetic screening is a safe and effective way to identify babies who have genetic disorders. Early diagnosis and treatment of these disorders can improve the quality of life for affected babies and their families.
If you are pregnant, you should talk to your doctor about newborn genetic screening. Newborn genetic screening is not mandatory in all states, but it is recommended by the American Academy of Pediatrics.