Question Regarding Newborn Testing

  1. Hi everyone, I have a question? I have a friend who just had twins...Prior to the delivery. we have learned that one of the twin, the boy was going to have a club foot. After the delivery the hospital conducted a test on the twins, the test came back that the son had high levels of protein, and now the state was mandataing that the parents and hospital conduct additonal test.The baby girls was fine.

    My other girlfriend just found out that the test did not come back with good news.


    I want to know what type of test was conducted and what does it diagnose.

    If anyone could answer my question I would really appreciate it!

    Brenda
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  2. 13 Comments

  3. by   imenid37
    i am not familiar w/ what the exact testing is for newborn screeing in nj. it sounds like maybe they sent the pku/msd testing to the state lab as is usually mandated in all or most states and an abnormality was detected.
  4. by   OBNURSEHEATHER
    Every state is different in what tests they require before discharge from the hospital, so I can't help you with exactly which test it was. But these are mandatory by state law. The diseases they test for are rare, but can cause mental retardation and/or death if not treated. Most are treated with medications or simple dietary changes. It sounds like something was off with one of these, and they would now like further testing.

    In Ohio, we test for 5: phenylketonuria (PKU), galactosemia, homocystinuria, hypothyroidism and hemoglobinopathies, such as sickle-cell anemia. But we're about to add some more (not good news for the nurses that spend all that time bleeding poor infants and filling all those endless circles with blood! - ME!)

    Heather
  5. by   Beach_RN
    Thank you Heather! Your response was very helpful!

    Brenda
  6. by   prmenrs
    Heather is correct--as usual. A lot of times these tests come back suspicious, and they do a "recall" test--and a lot of those are negative--so tell her not to worry YET, but get the repeat testing done. Usually the treatment involves either medication (hypothyroidism) or special diet (PKU).
  7. by   Beach_RN
    Thank you prmenrs ! Unfortunetely my friend is not doing very well, she has refused to get on the phone and talk to any of us! Her mother is the one who always answers the phone and just told us that the test came back with bad news and that our friend and the family is devastated. No other information was given.... we are just sitting here just wondering what is going on and what we can do to help!

    Thanks again!

    Brenda
  8. by   OBNURSEHEATHER
    Brenda - please keep us posted. I don't know if we would necessarily find out, but in my 4 years I've never know one to come back positive. Anyways, this is of interest to me, so please let us know what you find out.

    I wish your friend the best. Even though the diseases tested for are treatable, the devastation is the same for the parent.

    Heather
  9. by   Beach_RN
    Well I just got news from my other friend.. The baby test came back positive for PKU. I did some research.. it seems that this can be controled by diet and if the doctors catch it right away, in most cases there is no mental retardation (don't know if that is the politically correct word or not).

    Is this correct?

    Thanks for the follow up Heather!

    I look forward to the day that I am well versed enough with knowledge that I can respond to post! Only 900 more days left!

    Brenda
  10. by   bagladyrn
    Yes, that is correct. It is a condition controllable by diet, preventing the damage. That's why, though it is very rare, it is one of the mandated tests. Your hospital's OB unit may have brochures/info on this so you can have some understanding of what your friend is being told.
  11. by   NRSKarenRN
    B_Matt:

    Tell your friend about these sites:

    PKU
    Phenylketonuria is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized.

    PKU Prognosis
    The outcome is expected to be very good if dietary treatment is followed closely beginning immediately after the child's birth
    http://health.yahoo.com/health/dc/001166/0.html


    What is PKU?
    By Virginia E. Schuett, MS, RD, Director, National PKU News

    http://205.178.182.34/about/intro.htm
    Great site with support group for families

    PKU (from March of Dimes):
    Public Health Education Information Sheet
    http://www.noah-health.org/english/p...s/pkuinfo.html
  12. by   nurs4kids
    Heather,
    Why do ya'll test newborns for sickle cell?? The results aren't accurate until after 6months of age....or so that's our rule here??
    trac
  13. by   Beach_RN
    Thank you, bagladyrn & NRSKarenRN! for your responses...

    I will check out the website links..

    Brenda
  14. by   OBNURSEHEATHER
    Originally posted by nurs4kids
    Heather,
    Why do ya'll test newborns for sickle cell?? The results aren't accurate until after 6months of age....or so that's our rule here??
    trac
    Good question Tracy. I didn't know that about sickle cell testing. I'll have to read up on it.

    Heather

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