After my first two children were born, I remember the nurses taking each of them to be “stuck” in order for their blood to be screened for something or other. I signed the authorizations, I’m sure. I don’t think I really ever understood what the screening was for. I just knew that my babies “passed.” A few years later, while I was pregnant with my twins, the local newspaper ran an article about standard newborn screening for genetic disorders and how different the various state requirements were. I felt ignorant as I read because I hadn’t even realized that any of these screenings were required by law.
I learned that the American College of Medical Genetics (ACMG) recommends standard screening at birth for twenty-nine different disorders. These twenty-nine disorders are hearing loss, sickle cell disease, S Beta thalassemia, Sickle-C disease, congenital hypothyroidism, congenital adrenal hyperplasia, biotindase, transferase deficient galactosemia, cystic fibrosis, five fatty acid disorders, nine organic acid disorders and six amino acid disorders. There are actually additional possible screenings but ACMG recommends these twenty-nine particular disorders be screened for because many of them can cause severe disabilities or death if left untreated.
I was shocked to read that my state was among those that required the lowest number of screenings for each newborn. Each state determines its own testing requirements. All states do test for a few disorders including PKU, hypothyroidism and galactosemia. These were the only ones required in my state.
Some states require many screenings (sometimes as many as 30) while other states require only a few (like mine, of course). Like anything else related to lawmaking and politics, the reasons for this huge difference start with cost - but may also include risk of false-positives and the lack of treatments available for some of the disorders screened. To see which screenings are required in your state, check out the state’s department of health website.
The newspaper article I read mentioned that private laboratories offered supplemental screening to parents who wanted the entire battery of available screenings. I asked my pediatrician about it. He said that, years ago, he didn’t encourage the supplemental screening because the disorders they picked up were often extremely rare and more often untreatable. However, he changed his mind over that last several years after seeing some amazing medical breakthroughs for certain disorders. His recommendation now was to go ahead and have the supplemental screening done. He felt that, even if the disorder was untreatable now, parents would at least have some answers about their child’s condition and would likely be proactive in seeking out medical research to help that condition.
I also talked to the doctor about the reasons why the screenings were important in the first place. He explained to me that babies with these congenital disorders appear normal. However, the disorders compromise the body’s ability to use hormones, proteins, sugars or blood cells, which can sooner or later cause some pretty serious medical and developmental issues. If the screening is done at or shortly after birth, the baby can get early treatment, which would give the child a better chance at normal development.
So, after reading the newspaper article and talking to the pediatrician, I decided to look into the private labs. There are some which are completely private, like Pediatrix or Mayo Medical Lab. Others are affiliated with a university medical center, such as the University of Colorado. Many hospitals have contracts or agreements with a private lab like Pediatrix to handle requests for supplemental screening.
Check with your hospital or birthing center. The hospital where I delivered my twins did have such a contract but I chose to use a different lab, one affiliated with Baylor University Medical Center. I contacted that lab directly and received all of the necessary information, forms and testing kit through the mail.
My hospital was more than happy to complete the testing kit and forms and send them on to Baylor with the blood samples. I should mention that these supplemental screenings generally require your pediatrician’s orders – so discuss it with your pediatrician beforehand. He or she will have to sign off on the paperwork.
There is, of course, a cost which accompanies the supplemental testing. The average cost seems to be in the $60 - $90 range. It is unlikely that your health insurance will cover the cost of a supplemental screening. They’ll pay for the state-mandated screening but usually nothing else. Does that surprise you?! Each lab has its own list of disorders for which it tests. Take a look at their websites for the specifics. And talk to your pediatrician – he or she may have a different opinion or a different lab recommendation. Your hospital tour is also a good time to get some additional information. Ask the nurse who gives your tour if they use or recommend a specific lab and/or if they know which disorders are tested for in your state. He or she may even have some literature to give you on the subject.
It was pretty daunting to look at the long list of disorders my babies were tested for. It’s hard to believe that there are that many things that could go wrong (and usually don’t). But I was convinced that more information was better than less so we went ahead and did the extra testing. And it all came back negative. And I crossed a few more things off the list to worry about.
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