Posts Tagged ‘screening’

Update on newborn screening

Monday, July 19th, 2010

newborn-screening-picture1Many new parents know that their baby will have to undergo a newborn screening test.  But do you know what the blood from that little heel prick is testing for?  The goal of newborn screening is to identify babies at increased risk for certain metabolic or genetic diseases so that medical treatment can be started quickly.  For the conditions included in newborn screening, identification in the newborn period is crucial because early intervention can lead to a significant reduction of illness,  irreversible neurological and developmental damage, and sometimes even death.  Recently the March of Dimes, following the recommendation of the Secretary of the U.S. Department of Health and Human Services added Severe Combined Immunodeficiency (SCID) as its 30th core condition to the newborn screening panel.   SCID describes a rare group of inherited disorders characterized by defects in two critical immune system cells that normally help the body to fight infections.  In the media, SCID is frequently referred to as “the bubble boy” disease.  Experts estimate that approximately 40-100 infants are diagnosed with SCID in the US every year, although that may be an underestimate.  Some researchers believe that there may be many undiagnosed infants dying of SCID-related infections every year.  Infants diagnosed with SCID before they exhibit symptoms can have treatments that will significantly improve their health outcomes and potentially save their lives, such as stem cell transplants or enzyme replacement therapy.

Another newborn screening test that many of us may not even know our babies take is for hearing loss.  Each year in the US 12,000 infants are born with hearing loss.  Frequently, the cause is unknown.  But hearing loss can go undetected for years.  Infants should be screened for hearing loss no later than 1 month old.  Fortunately most states do include a hearing test in their mandatory newborn screening panel, so the test takes place before the baby even leaves the hospital.   The test is short and painless—in fact many babies sleep right through it!  If hearing loss is detected, more tests will be conducted to determine the severity of the loss and possibly its cause.   Early intervention for infants with hearing loss is very important both for communication and social development.   Recently we posted about the importance of early intervention for hearing loss.

Remember though that these tests are screening tests–they are not diagnostic.  If a screen comes back positive, it does not mean that your baby has that disease.  But it does mean that they need to have follow-up testing done.  So make sure you follow your health care provider’s recommendations.

Today, nearly all of the 4 million infants born each year in the United States undergo newborn screening.  Unfortunately, not all states currently test for all 30 of the recommended disorders.  Since there is currently no federal law regulating newborn screening programs, each state determines its own policies and procedures.  Curious as to what newborn screening is mandated in your state?  You can find out at the National Newborn Screening and Genetics Resource Center.   You can also read other posts about newborn screening here and here.

Your baby’s first tests

Thursday, February 19th, 2009

baby-feetDid you know that your baby starts taking tests as soon as she’s born? While Mom is overjoyed at the wonder of birth, Baby has work to do. As part of the normal routine, medical staff stick your baby’s heel (a little ouch!) and take a small blood sample.

This sample is used to test for several medical problems. Babies also usually get a hearing test. Most babies get a clean bill of health. But for the few that test positive for a condition, early treatment can be life saving.

These tests are called newborn screening. All states now screen for at least 21 disorders. The March of Dimes has been working hard over the last four years to encourage states to do more for babies by expanding their newborn screening programs.

This week we released a “report card” to show how states are doing. We’re pleased that so many now test for more conditions than they did a few years ago.

Watch our video to learn more. To find out what your state is doing, visit the Web site of the National Newborn Screening and Genetics Resource Center.

Testing for GBS

Tuesday, January 20th, 2009

Next week I’ll be in my 36th week and I start weekly prenatal appointments until the baby is born. The majority of my visits are pretty  routine and include your basic physical: blood pressure, weight, listening to the baby’s heart, and measuring my belly. This upcoming visit however my provider is going to test me for Group B streptococcus (GBS, also called Group B strep).

GBS infection is a common bacterial infection that is generally not serious in adults, but can be life-threatening to newborns. All pregnant women should be screened for GBS at 35 to 37 weeks of pregnancy. The health care provider takes a swab of the vagina and rectum and sends the sample to a laboratory for a culture to test for the presence of GBS. Test results are usually available in 24 to 48 hours. Women who test positive for GBS are treated with antibiotics during labor.

Click here to read the March of Dimes fact sheet on Group B Strep Infection.

Also, the Centers for Disease Control and Prevention (CDC) have a special Web site devoted to Group B strep.

Screening for birth defects

Tuesday, September 9th, 2008

At my last prenatal appointment I had a combination of tests done to screen for birth defects such as Down syndrome and Trisomy 13 and 18. I was nervous going, but my husband was with me for support. My visit started with an ultrasound. The doctor rubbed a hand-held device (called a transducer) across my belly. The baby was face up and the doctor needed him/her to turn to the side in order to measure the thickness at the back of the neck (called nuchal translucency).  We waited and waited, but he/she wouldn’t budge. I certainly didn’t mind because I was able to admire the beautiful image on the screen longer.

After several minutes, the doctor finally called for a nurse. She brought me a very sweet orange drink and the doctor said he would be back in less than 10 minutes. I was thinking, “yeah right, this isn’t going to work.” Well, wouldn’t you know it. When he came back and put the transducer on my belly, there it was — the most perfect profile. I guess the baby just needed a little energy. Using the mouse on the ultrasound machine, he was able to measure the back of the neck.

Then I was passed off to the nurse who took a blood sample. I don’t know if this is always the case with maternal blood screening, but she pricked my finger and placed about 5 or 6 drops of blood on a card. The office sent the blood sample to a lab and I would get the results back in about four days. The lab calculated my risk of chromosomal birth defects, using the combined results of my blood test and ultrasound exam.

I received a call a few days later. I was told that based on my age, blood work and ultrasound my risk for Down syndrome was 1 in 1, 610 and my risk for Trisomy 18/13 was 1 in > 10,000. I know that no test can gaurantee the birth of a healthy baby, but I was so relieved. It’s always nice to here reassuring news. Waiting for test results can be so stressful.

President Bush signs an important law for all babies

Monday, April 28th, 2008

Great news for babies! On April 24,  President George Bush signed into law the Newborn Screening Saves Lives Act.  Newborn screening tests can identify 29 treatable diseases soon after babies are born. This means that infants can start receiving treatment as soon as possible.

Many of the tests use a simple blood sample taken before the newborn leaves the hospital. The baby’s heel is pricked to obtain a few drops of blood for laboratory analysis. Fortunately, most babies receive a clean bill of health when tested.

Without screening, a seemingly healthy newborn with an undetected disease can become seriously ill.  Tragically, brain damage, lifelong disabilities, coma, or even death can result.

The new law will increase educational resources for parents and health professionals, improve the treatment of infants, and help states strengthen their newborn screening programs.

The March of Dimes was a key supporter of the new law and was instrumental in getting it passed. To learn more about newborn screening, read our Web article for parents.