Posts Tagged ‘genetic’

Pregnancy: A window to your health

Monday, August 23rd, 2010

crystal-ballSometimes I wish I had a crystal ball to look into the future. Did you know that your pregnancy can be your crystal ball?

Last week, the television program Today had a helpful segment on how health issues in pregnancy can sometimes predict health issues in the future. For instance, if a woman develops gestational diabetes or high blood pressure during pregnancy, she may be at increased risk for those conditions after pregnancy.

Also, your mother’s pregnancy history may tell you about some of the risks you may face. So you may want to take some time to learn about your family health history.

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.

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.

Storing your baby’s umbilical cord blood: Is it a good idea?

Tuesday, December 16th, 2008

You’ve probably seen those ads. The ones that say something like this, “Save your baby’s cord blood and protect her from serious illness in the future.” Should you do it?

The December 22 issue of Newsweek has a good article on this topic. The story is called “When Medicine Meets Marketing,” and it asks an important question: “Is salesmanship outpacing science?”

Umbilical cord blood is the blood left in the cord and placenta after the baby is born and the cord is cut. It is a rich source of stem cells.

Stem cells can be used to treat some genetic disorders and certain cancers. More than 70 disorders have been treated with stem cells from cord blood. Parents can now store their newborn baby’s cord blood at private cord blood banks.

Sounds good, right? But here’s the catch. If a child does need a stem-cell transplant, his own stem cells usually are not the safest or best source of stem cells for treatment.

OK, then, “Who should store umbilical cord blood?” Families who have a history of certain genetic diseases may want to store cord blood in a private bank for their family members. Health care providers, including genetic counselors, can provide more information.

But for the rest of us, the American Academy of Pediatrics (AAP) does not recommend storing cord blood in private banks. Storage is expensive, and the likelihood of it helping the baby is small, maybe even nonexistent.

The ads from umbilical cord blood banks are everywhere these days. But think twice before storing umbilical cord blood. Talk to your family’s health care providers first.

Here’s an alternative. The AAP and many scientists favor the storage of cord blood in public banks. It can be used to help people who urgently need blood cell transplants.

To learn more about umbilical cord blood, read the March of Dimes fact sheet.

Do you know your family history?

Thursday, May 15th, 2008

Family History is always fascinating.  All those stories about Uncle Phil or Grandma Leah are more important than you may think, especially right now. Why did Grandma Wood loose her leg?  Was it diabetes?  How long has your mother had high blood pressure?  How did Great Grandma Laura go blind? Is Aunt Betty’s glaucoma related in any way?  Or Grandpa Omer’s deafness, was he born deaf, did he have a fever as a kid or did it come on slowly? If you can find the answers to questions like these, it could make an important difference in your life and the lives of your children.

A Family Health Record can be a great tool to help you make decisions about your health during pregnancy.  Ideally started before your pregnant, it is never too late to start asking questions at the next family dinner.  Why is this important? If you had a family member that suffered from diabetes, you might want to control your weight to offset this tendency.  Or if there were any birth defects in your or your partner’s family, you may want to tell your doctor or speak with a genetic counselor.  Let me know when you have started one.  I am going to print one out now and get started.