Arizona Newborn Screens (formerly PKU test)

There is a test that will be offered to your baby called the “Newborn Screen” – whether your baby is born at home or in a hospital or birthing center, this test will be offered to your baby. Some people mistakenly call it the “PKU test”….the reason that is a mistake is that PKU (phenylketonuria) is only ONE of the 28 different disorders that the current Arizona Newborn Screen checks for.

There is a lot of confusion surrounding the newborn screen, so in this blog post I hope to answer some of those questions and bring clarity.

An actual Az Newborn Screen

An actual Az Newborn Screen

When is the test done?
The AZ Dept of Health recommends that your baby be screened twice: once at 24 hours old, and again at 5-10 days of age.
The screens are often referred to as a “first screen” and a “second screen”…and I find that misleading. A more accurate name would be “early screen” and “late screen” as it depends entirely on the baby’s age, not the number of screens your baby has had. If your baby is not screened until he/she is a week old, even if it’s the first time the baby’s been tested, it’s still a “second screen”…ie. a late screen. Your baby is too old for the first screen. You do not need to have a first screen performed in order to do a second screen.

How is the test done?
The baby’s heel is cleaned and then a lancet is used to make a small cut on the baby’s heel. 5 large drops of blood are collected on a card and allowed to dry. The card is then sent through the US mail where it is used for the test.

How we try to make the test look

How we try to make the test look

What does the Newborn Screen check for?

The Arizona Newborn Screen checks for 28 metabolic disorders of the newborn – most of which you probably won’t be able to pronounce even if it were right in front of you to read. They are not curable, but they are treatable.

The Arizona Dept. of Health Services website states that there are 29 disorders that are screened for because they include the hearing screen that is offered to all babies as well – but obviously that is not part of the heel-stick test.
You can see a list of disorders that the screen checks for here on their website..

I find this list especially helpful as it even explains how common each disorder is – you will see this notation at the bottom:

* Items are categorized by their occurrence as follows:

  • common: occurs in greater than 1 in 5,000 US births
  • relatively common (occurs in greater than 1 in 5,000 US births)
  • relatively rare (occurs in greater than 1 in 25,000 US births)
  • rare (occurs in greater than 1 in 50,000 US births)
  • very rare (occurs in less than 1 in 100,000 US births)
How we usually get it to look

How we usually get it to look

The newborn hearing screen is considered part of the test, but is not something that I can offer to your baby.  If you desire a newborn hearing screen for your baby, it’s recommended that you contact one of the local hospitals closest to you to make those arrangements – here is a list of locations you can take your baby for the hearing screen.

Why is it offered to my baby twice?
This is more challenging to answer – so I would like to share my personal experience with the recommendations rather than simply leave it at, “because the state says so”.
Many years ago, I asked the state why we were running TWO screens on each baby instead of one. The answer that I received from the state was that the early screen wasn’t accurate for all 28 disorders (the number I was told was that it was only accurate for 8 things on the list). I then asked why they did the early screen if it wasn’t accurate – their answer was that once discharged from the hospital there was no guarantee that the baby would ever be seen by a medical care provider and therefore couldn’t be sure that the baby would ever be screened…in other words, at least we could check for those 8 things. Also, if any of those 8 things showed up, we could begin treatment immediately. To me, that makes a lot of sense – for hospital births. At homebirths, I ALWAYS see them later and follow up.

Most of my clients were unwilling to allow me to run the test twice when they found out that the first test wasn’t accurate for everything – and when they found out that it was sent through the US Mail (in otherwords, not run immediately – therefore giving them the impression that there wasn’t urgency to the results). My recommendations at that time were that if only ONE test was to be allowed by them, that we do it at our 1-week postpartum visit thus ensuring that it’s accurate for everything. Most agreed and complied.  I then went through another training provided by the state – and got their training manual. Hidden in their manual inside their FAQ was this line:

“A baby who is only 3 days old has come for her first doctor’s appointment? Isn’t this too early to collect a 2nd screen?

No, the second screen should be collected at this appointment. Improved testing methodology makes earlier testing results valid and reliable.”

Fantastic – my recommendations changed! If someone was only going to allow me one opportunity to test I would recommend a 3-day late (second) screen and get accurate results even earlier for all disorders! And that was exactly what I recommended and did for several years – and all was good.

Until the state contacted me recently (2013), encouraging me to do more to encourage the first screen. The head of the education department (whom I freely give her name and phone number, but won’t in this blog post. If you desire her information please ask me and I will provide that to you) informed me that due to even more recent advancements in the test, the early 1-day screen IS ACCURATE for everything it is checking for. I repeated several times (probably to her annoyance) – “Just to be absolutely clear…you are telling me that if we do a 1-day early screen, it IS accurate for everything now!” She said an emphatic, “YES” (which is when I asked for her name and phone number to follow up with any questions). I then asked her why we are then doing a repeat screen…she said because it’s what’s recommended. I asked why it’s recommended – she said that it was how the test was run and they recommend doing two screens.

In other words, I actually didn’t really ever get an answer to that question.

Therefore – your options as the parents as I see it are this:

* You may choose to test your baby two times as is recommended by the state of Arizona…once at 24 hours old and once again at a week old.
* You may choose to test your baby only one time – an early screen at 1-day old, or a late screen either at 3 days or 1 week.
* You may refuse to screen your baby at all, refusing all tests.

 

I don’t have a history of any of the disorders – so why should I test my baby?
You can not tell by looking at your baby if he/she has any of the disorders – it is not until they become symptomatic that you might know. Sometimes the first symptom is death. Not having a history in your family can be of little comfort if you consider the fact that Arizona hasn’t been screening for everything that long – how many illnesses or SIDS have occurred due to some of these disorders but was undiagnosed because we never tested then? We will never know.

The odds of your baby having one of these disorders (when you combine everything on the test) is not high – approximately 1 in 500 babies will test positive for something on the screen. The disorders we check for are treatable, although not curable. Low risk does not mean no risk – it is up to the individual parent to choose what level of risk they are willing to assume for their family and their baby.

I have heard that the state keeps my baby’s DNA for 18 years – is that true?
EDITED TO CORRECT:
When I took the training with the state several years ago – they told me at the training that they keep the samples for up to 18 years for research purposes.  I was told at that time that it was the parents’ right to have the sample destroyed and that all they had to do was contact the newborn screen department of the Arizona Department of Health Services.
According to the AZDHS website  under their “Frequently Asked Questions” they say – “Specimens are stored for approximately 3 months and then are destroyed and discarded. Sometimes the leftover blood is used for testing or validating new laboratory methods for newborn screening.”
So either I was misinformed at the training (probable), or their website is inaccurate (less likely)…but I am happy to say that IN ARIZONA, according to their website, newborn screens are destroyed after 3 months.

CONCLUSION
Thank you for taking an interest in the health of your baby and reading this posting. I respect that you as a parent are educating yourself enough on this subject to actually get to this part of this posting and appreciate you taking such an interest in your baby’s health. Thank you – your baby is lucky to have you as parents!! Please know that if any questions remain after reading this post, I am available to answer anything that will assist you in making this important decision for your baby.

11 Comments

  1. Crys wrote:

    very interesting. I have lots of questions…

    Friday, March 1, 2013 at 1:48 pm | Permalink
  2. elfanie wrote:

    Please feel free to ask your questions, Crys….

    Friday, March 1, 2013 at 2:10 pm | Permalink
  3. Kim Bradford wrote:

    YES! I had never cared one way or the other strongly on the newborn screen, but after Lucy I am a strong advocate for it. It isn’t that invasive and it saved our baby girl! Andy and I never even knew we were carriers for MCAD or that any of our children were at risk for it until she tested positive for it. Thanks for writing this up Stephanie, off to share it!

    Friday, March 1, 2013 at 2:21 pm | Permalink
  4. Brynn wrote:

    I have a question? Is it required by law that the parent does this test? Of they choose not to? A parnet I know was told that if they didn’t do the test they could be prosecuted? Is this true?

    Friday, March 1, 2013 at 7:15 pm | Permalink
  5. elfanie wrote:

    In Arizona….I am required to offer it. It is always the parents legal right to refuse. Parents can not be prosecuted for choosing to refuse.

    Friday, March 1, 2013 at 7:22 pm | Permalink
  6. Reese wrote:

    SO… how do I contact the state to have those tests destroyed? And why isn’t that information (that it is stored) transparent to me at the time of the screen. Somebody thinks we’re idiots.

    Friday, March 1, 2013 at 9:49 pm | Permalink
  7. elfanie wrote:

    I just edited/updated the blog post to correct my own error on this…apparently I was told wrong previously as the AZDHS website states that newborn screens are destroyed after only 3 months. I am human and make mistakes – and I should have made certain that the information I had was correct before passing it alone….I stand corrected.

    Friday, March 1, 2013 at 10:31 pm | Permalink
  8. Joley wrote:

    Some of the information listed here is very misleading. Ex “5 large drops of blood are collected” actually 5 Large circles printed on the card are filled with several drops of baby’s blood.

    Thursday, March 14, 2013 at 8:16 pm | Permalink
  9. elfanie wrote:

    Joley:
    The circles do take 5 large drops of blood (and I can often do it with 5 drops total). If you try to use small drops of blood as they are forming, you may have to use more than one per circle as the circle must be filled entirely…
    But it is not inaccurate nor misleading to state that 5 large drops of blood are needed – that’s the volume of blood required…and, in fact, it’s what’s recommended when performing the test.

    Thursday, March 14, 2013 at 9:50 pm | Permalink
  10. leah wrote:

    fantastic post. will be printing it off to have on hand when discussing these thing with others.

    Friday, September 20, 2013 at 12:49 am | Permalink
  11. Merianne wrote:

    I understand the reasons for having the newborn screened for 29 disorders. But I am thinking this should be between the parents and their physician. Why is the state involved?

    Friday, October 31, 2014 at 4:33 pm | Permalink

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