Newborn screening

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Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. Most of these illnesses are very rare, but can be treated if caught early.

Metabolic disorders (also called “inborn errors of metabolism”) interfere with how the body uses nutrients to maintain normal metabolism. Other disorders that screening can detect, include problems with hormones or the blood. In general, these disorders can interfere with the child’s normal physical and mental development in a variety of ways. Parents may pass along the gene for a certain disorder and they may not know that they are carriers for it.

Although these conditions are considered rare and most babies are tested normal, early diagnosis and proper treatment can make the difference between healthy development and lifelong impairment.

What are screening tests?

Screening tests do not diagnose illnesses. They merely indicate which babies need more testing to confirm or rule out illnesses. In case follow-up testing confirms that the child has a disease, then treatment can be started even before symptoms appear.

The types of newborn screening tests that are done vary, but there are tests that are recommended be done for all newborns.

Some of the disorders for which screening tests are done include:

* Congenital adrenal hyperplasia

* Congenital hypothyroidism

* Cystic fibrosis

* Fatty acid metabolism disorders

* Galactosemia

* Glucose-6-phosphate dehydrogenase deficiency (G6PD)

* Sickle cell disease and other hemoglobinopathy disorders and traits

* Phenylketonuria (PKU)

Screenings are done using the following methods:

* Blood tests: A few drops of blood are taken from the baby’s heel. The blood is sent to a lab for analysis.

* Hearing test: Kids develop critical speaking and language skills in their first few years. A hearing loss that is caught early can be treated to help prevent interference with that development.

The tests are done when the baby is between 24 hours and 7 days old. They are usually done before the baby goes home from the hospital.

An abnormal result means that the child should have additional testing to confirm or rule out the condition. If testing confirms that your child does have a disorder, your doctor may refer you to a specialist for further evaluation and treatment. It is important to remember that dietary restrictions and supplements, along with proper medical supervision, can often prevent most of the serious physical and mental problems that were associated with metabolic disorders in the past.

You may be concerned about passing on the disorder to any future children. You should discuss this with your doctor and a genetic counselor.