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Prenatal and newborn screening tests

Published on: October 01, 2009

If you're pregnant, you've probably already experienced some prenatal screening tests. Many of them, like the urine tests, are recommended for everyone. Others screening tests, such as amniocentesis, are far more specialized. Your health care provider will tell you which prenatal tests he or she recommends for you, but the final decision is really yours. Perhaps you'll want to ask about additional test options, or maybe there are some tests you'd rather not have at all. This Decision Digest will give you some things to think about as you make these decisions throughout your pregnancy.

Why?

  • Prenatal screening tests are designed to provide you and your doctor with more information about your health and that of your baby.
  • Most likely, the information will give you peace of mind and reassure you that your baby is doing fine.
  • Sometimes the information can detect potential health problems and allow your doctor to prevent or treat them.
  • Prenatal screening tests also help you make informed decisions about your pregnancy, let you know what to expect along the way, and give you time to prepare for various outcomes.

Why not?

  • Some prenatal screening tests can be invasive, uncomfortable or even painful.
  • Most tests pose at least some risk, however small, such as added stress and anxiety for you, possible infection, or even, in rare cases, miscarriage. Make sure you understand and accept the risks involved in each prenatal test.
  • There is always the possibility of getting a false negative or false positive. You need to know the likelihood of inaccurate results for each test that you undergo and think about what it would mean to you if your test results turned out to be incorrect.
  • Any positive result from a prenatal screening test may result in riskier and more invasive tests to determine a diagnosis.
  • Ask yourself what you will do with the results, considering each test in the context of your religious and personal beliefs.

Summary

It is usually best to follow your doctor's advice when it comes to prenatal screening tests, but make sure you have all the necessary information first. Take the time to talk to your doctor about all of your options, and don't be afraid to ask questions. If you still have concerns, discuss them with family members, friends, a support group, a spiritual advisor and/or a genetic counselor.

Resources

 

Newborn screening tests

In Washington, state law requires that all babies be tested for 10 congenital disorders, such as PKU and sickle cell disease, before they are discharged from the hospital. The American College of Medical Genetics (ACMG), however, recommends screening newborns for at least 29 conditions. Advanced technology, called tandem mass spectrometry, now allows some labs to screen for as many as 50 disorders. Should you get expanded screening from a private lab for your newborn? Here are some answers about newborn screening tests to help you decide.

Why?

  • Both the American Academy of Pediatrics (AAP) and the March of Dimes endorse the ACMG's recommendations to screen for 29 conditions -- 19 of which your baby will not be tested for by Washington State.
  • Babies with these conditions often appear healthy, but without early diagnosis and treatment they can suffer serious and permanent health complications, mental retardation, or even death.
  • If your baby has one of the disorders, expanded newborn screening will help your baby's doctor identify it quickly so he or she can begin treatment before it is too late.
  • If the results are negative, your family will have the peace of mind from knowing that your baby has been screened for the conditions listed.
  • Testing involves a simple heel prick to get a few drops of blood, which can be collected at the same time as the state-mandated sample.

Why not?

  • All of the conditions are considered rare. The ACMG estimates that about 1 in every 800 babies born in the U.S. has a potentially severe or lethal condition for which screening and treatment is available.
  • There is always a risk of getting a false positive on a newborn screening test, and according to Beth A. Tarini, M.D., from the University of Washington, "the greater the number of tests run on a single drop of blood, the greater the likelihood of a false-positive result."
  • Any positive screening test results -- accurate or not -- will require additional medical tests to determine a diagnosis and will certainly increase your family's stress and anxiety levels.
  • The cost of expanded newborn screening tests, available from private labs, ranges from $25 to $89 per sample and may require additional costs for expedited shipping.

Summary

There is a chance that expanded newborn screening tests could save your baby's life, but getting those extra tests will cost you. If you have any questions about newborn screening tests, talk to your baby's future health care provider.

Resources

Laurie Thompson is freelance writer and mother of two in Bellevue.

 

Originally published in the October, 2006 print edition of ParentMap.

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