Question Regarding Newborn Testing

Nurses General Nursing

Published

Specializes in Trauma and Pediatrics.

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

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.

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

Specializes in Trauma and Pediatrics.

Thank you Heather! Your response was very helpful!

Brenda

Specializes in NICU, Infection Control.

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).

Specializes in Trauma and Pediatrics.

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

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

Specializes in Trauma and Pediatrics.

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

Specializes in OB.

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.

Specializes in Vents, Telemetry, Home Care, Home infusion.

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/pregnancy/march_of_dimes/birth_defects/pkuinfo.html

Specializes in Pediatric Rehabilitation.

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

Specializes in Trauma and Pediatrics.

Thank you, bagladyrn & NRSKarenRN! for your responses...

I will check out the website links..

Brenda

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