View Full Version : Newborn testing

10-06-2003, 01:56 AM
So, Ds was unexpectedly born in a hospital, so I was unprepared for the barrage of procedures. One was just awful. They squeezed my perfect-little-baby's foot over and over to get enough blood to just FILL these 4 circles on a piece of paper for a test that was state-administered, I got a bill for, and never got the results! All I kept thinking was how it was important b/c one of the conditions it tested for my MIL had.

I came to find out, much later, that this test is totally inaccurate until a baby metabolizes the milk they've had. At one day old, my exclusively breastfed-newborn and not received ANY milk.

I'm still FURIOUS! So I just wanted to pass along this info...do your research! No matter where you think you might deliver!


10-07-2003, 12:48 PM
I believe the test you are referring to is for galactosemia, the inability to break down the sugar galactose which is found in milk. Here is a page from WebMD on galactosemia testing:


From the WebMD site:
"One screening test checks for the presence of the galactose transferase enzyme. Results are either negative (the disease is not present) or positive (the baby has galactosemia). For this test, several drops of blood are placed on a specially treated paper and viewed under an ultraviolet light. Normal blood glows. Blood that lacks the enzyme does not glow."

This form of the test does not require that the baby has metabolized any galactose for the test to be accurate. It checks for the actual presence of the enzyme, not a metabolic product. In fact, it would be good to know this BEFORE the baby gets any milk so no harm would be done at all. I'm not sure if this is the version of the test you got, of course. For more info you might want to check of the March of Dimes website. The March of Dimes recommends all babies be screened for 9 metabolic birth defects and hearing, with the intial screening generally done when the baby is 24 to 48 hours old.


mom to Jacob 9/27/02

10-07-2003, 03:38 PM
No...ugh...I wish I could remember the name! It's a multi-test...

AHA! It's the PKU test. I'm still SOOO mad that "professionals" I entrusted with our care didn't know this simple information:


Phenylketonuria (PKU) is a genetic disorder. It is routinely tested for during the first few days of life. In many states the test is required, and is frequently done in conjunction with several other tests, such as: Galactosemia, Thalasemia, etc.

This test involves sticking the foot of the child for blood. It is only accurate when your baby has been receiving a diet containing phenylalanine, in both human milk and artificial formulas, for a period of 24 hours. For this reason a breastfed baby should not be tested until at least seven days after birth, giving a chance for breastmilk to come in and the baby to nurse. If your hospital or doctor is trying to encourage a breastfeeding mom to take this test before then, the results will not be valid. Many places do the test before you leave the hospital and ask you to return in one week to have the test repeated. This is usually for their convenience to make sure you've at least had one test for their records, even though it is not valid. Talk to your pediatrician about having this done only once.

10-07-2003, 03:39 PM
I just wanted to add, that in California, they check for other diseases, as well...but it's still referred to as PKU.

10-09-2003, 08:50 AM
Ah, ok. The PKU is one test out of the 4 your babe got then. I think it is pretty much required in all states. I have also seen that the PKU test may be inaccurate, especially within the first 24 hours, which is why I think they wait at least that long to test.

This is from the March of Dimes website:

"All states now routinely screen new-borns for PKU. The test is highly accurate when performed as recom-mended, when the baby is more than 24 hours of age but less than seven days. However, early discharge from the hospital is becoming more common, and many babies are tested within the first 24 hours of life. This is too early to detect all babies with high phenylalanine levels and some of them are missed on these very early tests. The American Academy of Pediatrics currently recommends that infants whose initial test was taken within the first 24 hours of life should be tested again at one to two weeks of age."

Seems like it would be better to test after a couple of days rather than too early, but they probably test for all the diseases at once out of convienence (of course). The amino acid phenylalanine (the culprit that causes problems in people with PKU) is found in virtually all proteins, though, so I think as long as your baby has metabolized any proteins (such as those found in colostrum) then the test can detect elevated phenylalanine levels.

Info from AAP website regarding PKU screening:

"Timing. Screening should occur in newborns older than 24 hours and younger than 7 days. Infants screened before 24 hours of life should be rescreened by 2 weeks of age to detect possible missed cases. This situation may be avoided by reducing the screening cutoff level to 2 mg/dL when specimens are taken before 24 hours of age, but this practice results in a marked increase in the false-positive rate and is not currently used in most state newborn screening programs. All infants should be screened at the time of nursery discharge or transfer regardless of age. Antibiotic treatment can affect the results by inhibiting bacterial growth in the Guthrie assay. Sick infants and premature infants should be screened by 7 days of age, regardless of feeding history or antibiotic treatment."


mom to Jacob 9/27/02

*Edited to add info from AAP website regarding PKU screening*

10-09-2003, 11:01 AM
Yes, that's the one. =( I had to pay for the dumb thing, never got the results, which I now find out are totally inaccurate. Forget how traumatic it was for us (mostly me)!

Where we are, it tested for other things, as well. I can't remember them all, but one was a thyroid disorder, which runs in Dh's family and that's why I allowed the test.

10-09-2003, 05:52 PM
Wow, that's awful. We had the same test done at her 4 day appointment, so obviously she had matobolized milk so the test was given correctly. I would be so mad if the hospital took the test at 1 day. It is such a horrible test, the way they squeeze and squeeze all while your baby cries and looks at you like "make them stop!" You have every right to be furious at your hospital for giving the test so early.

10-09-2003, 09:36 PM
From reading the AAP website, apparently no one ever gets the results, not even your doctor, unless there is a problem! Kinda weird... But I guess my point is that as long as your baby wasn't premature or on antibiotics, the AAP recommends testing between 24 hours and 7 days old, so it sounds like if your baby was tested at 1 day old that is within the guidelines. These tests can really be life-altering for a small percentage of those tested, so I am glad they do them. My baby got so many heel sticks within 5 hours of birth (5 hours I never got to see him!!! long story...) that the heel sticks for the metabolic testing seemed like nothing at that point. I think you are right in that it is more traumatic for the mom!

mom to Jacob 9/27/02

10-09-2003, 09:57 PM
Yes, but my point is that my son had not ingested anything at 1 day. So in our case, it was not appropriate, and I really wouldn't even know if he did or did not have the disease since it was inaccurate for us, at that time. It just caused us trauma and some much-needed money (Dh was laid off at the time).

10-15-2003, 09:24 PM
My DS had the test done THREE times!

Here in GA, they require infants to be retested if they leave the hosptial before being 48 hours old. So, we had it done the second time in our Ped's office when DS was 4 days old. Then the state rejected the second test (said there was not enough blood in the circles), so I had to take DS back to the Ped. and have it done AGAIN. My Dr. was mad that it had to be done again and told me that if it was rejected the third time that he would not make us do it a fourth time. He also said there is no rhyme or reason as to why the tests are rejected -- what's ok one day gets rejected the next.

Our Dr. did however get the results, or I should say he received something that said that DS did not have any of the conditions they were testing for -- I believe there were 9.

When my older DS was born, we lived in MI and the hospital told us that if we never heard anything about the results that it was a good thing (they only notify you if there is a problem).


10-17-2003, 08:58 PM
My 4.5-month old baby has PKU, so I have learned a lot about the screening test and can provide a little info. The PKU test tests for an error in the body's metabolizing protein, regardless of the source. The test doesn't require that the child have eaten - simply that it has been out of the womb long enough for them to start metabolizing something, be it breast milk, formula or stored fat and their own protein. You in fact never get the results unless there is a problem. Tests over 24 hours should be accurate (but not before, as a recent tragic CA case shows). If there were anything wrong in your screening panel, you would have a re-test. FOr example, my exclusively breast fed baby was tested at about 36 hours, and his blood phenylalanine levels were already many times the norm. He was retested a few days later and the diagnosis was confirmed. So it sounds like everything was done according to procedure, and because untreated metabolic disorders create *devastating* results, sounds like you are lucky.

Lucy & Ryan 5/30/03