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Screenings essential for newborns' health
September 12th, 2011
07:00 AM ET

Screenings essential for newborns' health

September is Newborn Screening Awareness month, a time designated to get the word out to new or expectant parents about the importance of having their new babies screened for serious illnesses.

Even if a baby is born healthy, certain conditions can develop later in infancy that may affect a child's long-term health. That's why the Center for Disease Control stresses newborn screenings. These tests can many times identify issues before they become major problems and can help with the diagnosis and treatment of certain illnesses.

"Newborn screenings actually started in the '60s, when newborn babies were screened for phenylketonuria or PKU, (a metabolic condition that can damage the brain) ," says Dr. Toni Thompson-Chittams, a board certified pediatrician and director of TLC Pediatrics of Bowie, Maryland. " The screenings became so successful, hospitals and state public health departments, decided to test for more conditions."

Each year, millions of babies in the U.S are routinely screened for specific genetic, endocrine, and metabolic disorders, such as sickle cell and PKU. Using a few drops of blood from the newborn's heel, the tests are usually done before the baby goes home from the hospital. They range from hearing tests to jaundice detection. Each state varies on which tests are given.

"Your state's public health department will know exactly what tests are available," says Thompson-Chittams. " Parents can call or look at their state health website or ask their doctor."

"In some cases," Thompson-Chittams continued, " hospitals will send the baby's blood out to labs in other states to make sure the baby is tested for all conditions. If a parent wants more tests, they can ask for them. Some are covered by the state. Others, such as certain genetic tests, like for cystic fibrosis, will need to be paid for by insurance. But many parents don't care. They want the test done to bring them piece of mind."

According to the Department of Health and Human Resources and the CDC, in most states, before heading home with their families, babies should be screened for tests that fall under these five categories

- Amino acid metabolism disorders – (Example: PKU, or phenylketonuria) These are a group of disorders that vary in severity. Some affected babies lack enzymes needed to break down building blocks of proteins in the body called amino acids. Others infants have deficiencies in enzymes that help the body get rid of nitrogen found in amino acid molecules. Too high levels of amino acids or ammonia can build up in the body causing a variety of signs and symptoms, and even death.

- Organic acid metabolism disorders – (Example: HMG, or hydroxymethylglutaric aciduria) The diseases in this group are inherited disorders and are caused by a lack of enzymes that break down amino acids, fats, sugars and steroids. When any of these are not properly broken down, toxins ( poisons) build up in the body. Without proper treatment these disorders can cause coma, even death in the first month of life of a baby.

- Fatty acid oxidation disorders – (Example: TFP , or trifunctional protein deficiency) These disorders are caused by inherited defects of enzymes needed to turn fat into energy. Babies with these disorders suffer from a loss of energy, because their bodies run out of sugar which keeps them going. This is most likely to happen when a child gets older and becomes ill or skips meals. Without treatment, the brain and many organs can be affected.

- Hemoglobinopathies – (Example: sickle cell anemia) These are inherited diseases of the red blood cells that can cause anemia (shortage of red blood cells), serious infections, pain and damage to vital organs.

- Others – Babies should also be screened for hearing loss.
" Doctors will administer a BAER test, that evaluates the nerves in the baby's ears. It's very simple and gives us an accurate reading on possible hearing defects," notes Thompson.

HHS and CDC also recommend babies be checked for jaundice while they are in the hospital and then within 48 hours after going home. If not treated, jaundice can lead to brain damage.

The March of Dimes, a national organization whose mission is to help mothers have full-term pregnancies and research the problems that threaten the health of babies, would like to see all infants in all states screened for 30 disorders for which effective treatment is available. This recommendation is based on endorsement of a report by the American College of Medical Genetics urging screening for these disorders. The recommendation is also based on the 2010 guidance from the secretary of Health and Human Services.

Thompson-Chittams says newborn testing is essential to help babies grow into healthy, happy children.

"Catching these illnesses at their beginnings can lead to better treatment and better outcomes," says Thompson-Chittams. " What better way to help a newborn grow, than to catch any possible orders in their earliest stages and treat them before they become problems later in life."


soundoff (22 Responses)
  1. RMayr

    The Pulse Oximetry test should be on the list as well. 1 in 100 kids are born with congenital heart disease and many of them die every year after going home undiagnosed. This is a simple, low cost and pain-free test that can save hundreds of lives each year. If you are pregnant, make plans to ask for it when you give birth to your child. Your insurance will most likely cover it.

    This from a mom of a child with congenital heart disease.

    September 12, 2011 at 10:08 | Report abuse | Reply
    • Meljean

      For a person can acveihe weight loss shouldchange their eating habits.Avoid or reduce the junk food and replace it with vegetable fiber.The process should be slow, and so do not go through abstinenceIs difficult at first to change our eating habits, so I advise, change our habits slowly but steadily.we have to eat much more fiber (25 grams a day) and drink lots more waterWe have to sleep 7.5 hours per day minimumDivide meals at 5.6 or 7 small meals

      October 13, 2012 at 23:29 | Report abuse |
  2. Save Babies Through Screening Foundation

    We are the only newborn screening advocacy group in the country Please visit savebabies.org for info that could save a baby's life. We advocate for all newborns to be screened comprehensively. There are over 50 disorders that can be detected through newborn screening so it is important to learn what your state screens for and if you should have additional newborn screening tests done for your baby.

    September 12, 2011 at 10:47 | Report abuse | Reply
    • Lou

      It would have been much better to make sure pregnant mothers take enough vitamin D due to widespread vitamin D deficiency...

      Since vitamin D is a steroid hormone that acts as gene regulator/maintenance/repair hormone, maybe that would have prevented some if not all of disorders...

      September 12, 2011 at 14:41 | Report abuse |
    • Kate

      You, who thinks vitamin D will prevent PKU, clearly know nothing about medicine or genetics.

      September 12, 2011 at 20:20 | Report abuse |
  3. Frank

    Vitamin D is #1 test indeed. Second would be thyroid. Toxins like fluoride and jet fuel in the water supply are killing women's –and men's thyroid gland. It is more readily evident with women–and more dangerous since they produce the babies. Both of these tests are so easy and inexpensive to test and rectify. So expensive to ignore.

    September 12, 2011 at 17:26 | Report abuse | Reply
    • toddflanders

      What book of voodoo did you get your facts from? Leave real science to the adults.

      September 12, 2011 at 21:07 | Report abuse |
  4. Michael

    All infants should be checked for retinoblastoma: eye tumors, and evaluated for large refractive errors, and tropias, which will lead to amblyopia if not treated. An optometrist or ophthalmologist can be consulted for these tests.

    September 13, 2011 at 20:40 | Report abuse | Reply
  5. Save Babies Through Screening Foundation

    Please visit the Save Babies Through Screening Foundation for more information on newborn screening. http://www.savebabies.org. You can also connect with us on Facebook and follow us on Twitter @screenbabies

    September 14, 2011 at 14:34 | Report abuse | Reply
  6. Bek C

    All babies should be tested for G6PD Deficiency. Currently, only two states in the US mandate this testing. It's passed down on the x chromosome, but due to long standing stereotyping many people (particularly women who may be partially deficient and rarely symptomatic, though some are when exposed to various triggers/stressors) are never tested and never aware that they have this disorder. You can learn more about G6PD Deficiency at http://www.g6pddeficiency.org . I wasn't diagnosed until I was 34. My son was 7. The fallout from not knowing about this all of these years is dramatic. My son was premature because I was on a contraindicated antibiotic during my pregnancy, I've had cataracts, jaundice, severe anemia...

    September 26, 2011 at 21:52 | Report abuse | Reply
    • Basia

      i totally agree on G6PD testing – it should be mandatory for all states – most doctors will not suspect to test for it later anyways – i think a lot of people will be much healthier knowing they have this disorder and it will even save some lives – i almost died when i was 2 and had to have blood transfusion because my parents didnt know and back then it wasnt even screened in new york-thank god i was in greece as drs know about it there otherwise i would be dead- it s a really cheap and quick test, it s a pity they dont include it

      September 27, 2011 at 09:03 | Report abuse |
  7. mrs fashola

    I'm really surprised at this new disease. I mean , ave never heard it before until my new born was diagnose of it one month ago.she had jaundiced few days after birth and was tested for it

    September 27, 2011 at 02:44 | Report abuse | Reply
    • Bek C

      I had never heard of it either, even though I had (at the time of diagnosis) 34 years of fairly clear indications that I should have been tested for it. I'm glad they tested your daughter and you got an answer and I hope she is doing well now! Too many medical professionals think of it as a male only disorder, we need to change that!

      September 27, 2011 at 20:00 | Report abuse |
  8. G6pd defeciency mom

    G6pd deficiency should be screened at birth. This is the most common disease you've never heard of. This is an inherited genetic disorder and this has been found in my 3 month old son. His hemoglobin enyzme level is 0.5 when normal should be between 7-13. I was in denial that he had this and hoped it would be a mistake. How can this be hereditary if it hasn't been in my family history at all? What is the most frustrating is that i feel i can't turn to the professionals – doctors – for advice as even they don't know much about it but just what they've been taught in one or two paragraphs of their medical book in school. I've relied heavily on forums and the internet on what kinds of things my son has to avoid. It's difficult because what he has to avoid is overwhelming and affecting what was once our normal way of life and eating habits. Beans and soy especially, coming from an asian background. Blue food colouring – how can little boys not consume blue colouring in candy, birthday cake, face paint? Soy lecithin is in everything! Cookies, granola bars, ice cream, or even healthier stuff like bread. I feel like my son needs to live in a bubble. Consequences would be getting jaundiced as he did at birth. And having to get blood transfusions or else lots of damage can occur, such as brain, etc. Therefore we need mkre awareness and need to test for this because there are way too many triggers that need to be avoided in our daily lives for this deficiency to go untested. It will eat at us slowly.

    September 27, 2011 at 06:00 | Report abuse | Reply
    • Bek C

      I hope your son is doing well now! It doesn't show up in family history because even now nobody thinks to test for it even when there are symptoms, and when there are symptoms of anemia, they test the levels but often the results are based on all of the new red blood cells trying to replace the damaged ones, and the test that is usually ordered does not accurately rule out anyone, but it also cannot determine if someone is partially deficient or a carrier. I'm glad they finally thought to test your son. Soy is in everything. We have been legume free for one year now and I am so happy my rheumatologist thought to test me, so I could also have my son tested so he doesn't have to go through the same things I have gone through. I'm glad we caught his at age 7 so when he is 34 he will living the life he wants to live and not dealing with a body that has been through decades of slow damage. Big hugs to you!

      September 27, 2011 at 20:07 | Report abuse |
  9. Outoftheblue

    In 1974, before the days of bili lights, my firstborn son was born jaundiced. Since he was born in Singapore, where the targets of newborn screening include G6PD deficiency, the jaundice was easily explained. As a nursing mother, I could have unwittingly caused severe haemolysis by eating proscribed foods or taking certain types of medication. My blue-eyed, blond baby didn't fit the stereotype for G6PDD, either. To avoid death by ignorance, children need to be screened for G6PDD at birth.

    September 27, 2011 at 12:20 | Report abuse | Reply
    • Bek C

      Same here....Blond hair, grey eyes, and I'm female. I have G6PD Deficiency and my son got it from me. They had me on macrobid (nitrofurantoin) through my entire pregnancy and I was anemic and very swollen until they delivered my son at 33 weeks. I wasn't tested until my rheumatologist tested me when he put me on Plaquenil. He tested me because he tests all of his patients because so many people go undiagnosed for so long. When I got my results I had my son tested. Sure enough, both of us have G6PD Deficiency. Another surprise? My husband also has the deficiency. He is very healthy though, as he does not have the same environmental and health history that I have (thankfully!). Best of luck and health to you!

      September 27, 2011 at 20:14 | Report abuse |
  10. Bek C

    Randall Amster wrote a great piece on G6PD Deficiency, in case anyone wants to learn more... It can be found at http://www.huffingtonpost.com/randall-amster/the-most-common-disease-y_b_241635.html
    The best site for information on G6PD Deficiency is at http://www.g6pddeficiency.org

    September 28, 2011 at 06:45 | Report abuse | Reply
    • Gokul

      large doses of d is for rat poison as in D-Con.After rdeiang This please take all you want.I ruined my bones i developed osteoporosis and RA as well.So I thought i should reconsider my diet. I did lots of researched and found out most food is poisoned with D. And i should avoid Vit D to get my bone density back.Welcome to the 21st century. Here, there is a whole new science called metagenomics.

      October 14, 2012 at 00:38 | Report abuse |
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    November 24, 2011 at 06:24 | Report abuse | Reply
    • Auth

      He's just being a mouthy Golden puppy. Some are worse than otrhes, because they are more curious. Putting things in their mouth's is how puppies find out about the world, same as human babies. When he is on leash walking with you, watch him closely. When he is about to put his mouth on something inappropriate, tell him "Leave It" & pull him away from it. When he leaves it alone & walks on with you, praise him. If he picks something up in his mouth, tell him "No" & remove it from his mouth. Then walk on. Glad to hear you will be starting an Obedience class with him soon. Hope this helps till then. Good Luck.References :

      October 11, 2012 at 18:40 | Report abuse |
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