Posts Tagged ‘disease’

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.

Carrier screening for cystic fibrosis

Tuesday, September 15th, 2009

blood-samplesCystic fibrosis (CF)  is a serious inherited disease that affects the lungs and makes it hard to digest food.

In the United States, about 1 out of every 3,500 babies is born with CF. It is most common among people who are white.

CF carrier screening tests identify men and women who carry an abnormal gene for CF. This means that their babies might inherit the disease.

To inherit cystic fibrosis, a child must receive two abnormal CF genes, one from each parent. A CF carrier is a healthy person who has one normal CF gene and one abnormal CF gene.

Health care providers routinely offer a carrier screening test to men and women who have a family history of CF. Many providers also offer the test to all couples who are planning pregnancy or are pregnant. Couples must decide for themselves if testing is right for them.

To take the test, men and women provide a blood or saliva sample.

An improved carrier screening test was recently announced. It can detect 39 genetic mutations that can lead to CF.

For more info about CF and carrier screening, talk to your health care provider.

At-home genetic tests

Tuesday, July 7th, 2009

dnaHave you seen the ads? Send a sample of your saliva into a company, and they can test to see if you are at risk of certain genetic diseases.

In recent years, companies have begun advertising and offering genetic tests directly to consumers, usually on Web sites. This is called at-home or direct-to-consumer genetic testing.

At-home genetic tests can cost a few hundred to a few thousand dollars. Health insurance companies don’t pay for genetic tests unless a health professional asks for the tests.

The at-home tests may provide some information about the health risks a person may face over her lifetime. They may also tell her if her children might be at risk of certain birth defects.

But health professionals worry about the stress that these tests may cause, especially when people may misunderstand or misinterpret the results.

It’s probably best to have a genetic test only if your health care provider recommends it. Most such tests take place in a medical lab or office, not at home. You and your provider can decide what’s best for you, and your provider can help you fully understand what the test results mean. (Companies that offer at-home tests often charge extra for counseling services.)

For more information, read the March of Dimes article At-Home Genetic Tests.

Ferrets, reptiles and fish — Oh, my! Risks for children under the age of 5

Tuesday, October 7th, 2008

When we were small, my sisters and I loved playing with Cuddles, our affectionate border collie. She was part of the family, almost another sister. Pets can bring so much into a chid’s life: fun, companionship, responsibility. But sometimes they can put a child’s health at risk.

The American Academy of Pediatrics (AAP)  has issued a report cautioning parents about the health risks of “nontraditional pets.” Such pets can spread disease and infection, cause injury, and trigger allergies. AAP encourages parents to take care, especially for children under the age of 5.

AAP’s list of “non-traditional” animals includes some that are fairly common in people’s homes. Examples from the list are aquarium fish, frogs, salamanders, ferrets, rabbits, mice, hamsters, guinea pigs, hedgehogs, turtles, monkeys, snakes, iguanas and alligators.

These animals can spread infections such as ringworm and illnesses that cause diarrhea and fever (like salmonella). Sometimes very serious illnesses are linked to “non-traditional” pets. Examples are plague, inflammation of the brain, and Guillain-Barre syndrome (a nerve disorder).

Talk to your child’s health care povider about the pets you own or are thinking about getting. Learn what you can do to reduce the risk. AAP recognizes that pets provide many benefits for children, but it’s a good idea to take care. Then go back to enjoying your pets and your children.