Newborn Screening

Newborn screening, also known as genetic screening, is performed when a baby is born to detect the presence of diseases or disorders that may not have immediate or obvious symptoms. This can include metabolic diseases, hormonal problems or problems with the baby's blood.
 
The diseases that newborn screening detects are often those that have been passed down by the parents, with or without their knowledge. Although most of these diseases and disorders are rare, screening is still a good idea. Early treatment is vital for many diseases that can be caught by newborn screening.
 
Doctors start the process of newborn screening by performing a quick, simple blood test. After pricking the baby's heel, your baby's doctor will apply a amount of your baby's blood to filter paper for testing. In general, newborn screening is recommended two to three days after birth. If your baby receives testing within the first 24 hours of life, a repeat test may needed about one to two weeks later.

State Requirements for Newborn Screening

In most states, because of the seriousness of the diseases involved, newborn screening is mandatory. Different states have different screening requirements. On average, states require screening for anywhere from 4 to 10 diseases, though in some states screening for up to 30 diseases is required.
 
Many of these screenings can be done with a single blood test. A new technique called tandem mass spectrometry allows the screening for up to 20 disorders with a single blood sample.

Newborn Screening

Newborn screening can test for a number of diseases and conditions, including:
  • congenital adrenal hyperplasia
  • congenital hypothyroidism
  • cystic fibrosis
  • Duchenne muscular dystrophy
  • galactosemia
  • HIV
  • homocystinuria
  • maple syrup urine disease (MSUD)
  • neuroblastoma
  • PKU
  • sickle cell disease
  • toxoplasmosis
  • tyrosinemia.
In some cases, these conditions can be treated or even eliminated if they are identified early.

Controversy Surrounding Newborn Screening

Some controversy and confusion surround newborn screening. Because different states have set their own requirements, there is a debate on which screenings are actually necessary and beneficial for newborns.

Arguments against performing newborn screenings in their current form include:

  • National standards should dictate newborn screening requirements.
  • Parents should have a right to decline newborn screenings.
  • Screening shouldn't be performed for diseases that commonly indicate false positives.
  • Screening shouldn't test for diseases that modern medicine can't currently treat.
The cost associated with performing screenings is another area of controversy. Who should pay? States, the government, health care plans and parents have all been considered.

Advice for New Parents

The best advice for new parents concerned with newborn screening is to find out the requirements of your state ahead of time. Talk to your doctor about the options, what is necessary and what he suggests.

If your state doesn't require a screening you think is necessary, ask your doctor about an elective, or supplemental, screening. While you will most likely need to pay for the screening out of pocket, the peace of mind you'll gain may make that cost worthwhile.

New parents should especially look into extra testing if they:

  • have a family history of an inherited disease
  • have already had a child with a genetic disease or disorder
  • have lost a child or unborn child to a disease or disorder.
Resources
 
Kids' Health (2008). Newborn Screening Tests. Retrieved February 6, 2008, from the Kids' Health Web site.
 
Medline Plus (2008). Newborn Screening. Retrieved February 6, 2008, from the Medline Plus Web site.