Newborn Screening / PKU Information

[mom2owen1]

I have seen this topic discussed here before, even though it isn't a vaccine. I tried doing a search of the forum and didn't come up with any of the posts.

Does anyone have information on the newborn screening? I know what the test is and how it is performed, but i am looking specifically for age related info (is there an age that is too old to get a accurate result, etc), opinions on neccessity, would symptoms of diseases show up by now, etc.

The situation is that I have a 6 week old son who had the newborn screening done at 1 week (we waited until his one week appt so he would have been digesting milk for at least 48 hours). It was obviously painful for him and torture for me to watch. It made it a bit better that he nursed through some of the test. The lab wasn't able to process the card and the dr wants it redone. We decided not to have it redone, but have rec'd 4 calls about it and now DH is questioning our decision.

We have an appt with the dr to discuss the test today.

Thanks!

[annettemarie]

I'm going to go ahead and move this over to Birth and Beyond

[OnTheFence]

Its a legal issue here in AL.

We have it done, however my babies have to have a lot of heel pricks due to pathological jaundice. However I will not let them do it until at least 48hrs have passed and my milk has come in. (I get my milk very quickly!)

[musemor]

Newborn screening is the law here in CA. Originally we were going to go to the HMO hospital to have it done (to save money), but I ended up being too stressed out by the idea and so my midwife came and did it at our home on day six. The midwife was extremely gentle and J breastfed before and after. I held her the whole time. She jumped at the heelstick but didn't cry, and the midwife didn't squeeze her foot, she just let the blood slowly drip to fill the card. It was a really good experience and if you have to have it done I'd highly recommend finding someone to do it in your home if at all possible. It was worth the few extra dollars.

That being said, I felt that most of the serious diseases tested for in the newborn screening would be apparent by six weeks. Basically all of the metabolic diseases would be apparent. Endocrine diseases might not have shown up yet, but since they are genetic, you may already know if your or your partner have a history of endocrine diseases (hypothyroidism, etc) in your family. You also probably wouldn't know if your baby had sickle cell anemia or hemoglobin H disease (also both genetic) at this point. In your position, if I had the legal option not to test, I would not do it.

[AngelBee]

: I too was trying to find info here on it. Mylee was tested Mon at two weeks. I could not really find anything to support not getting it done.

She nursed through most of it and only seemed a bit annoyed.

Good luck with whatever you decide.

[huggerwocky]

We had it done ( NOT by a doctor or worse one of those people who just did a course...) and I'm glad we did, my daughter has a hemoglobin trait which I else wise would not know.

[~*~MamaJava~*~]

This is the one thing I've okayed ahead of time for the new babe. I feel that it's a minimum of intervention for a decent benefit, because here in Ontario (don't know if this is the case everywhere) the test now screens for quite a few problems that are very serious. I have a family member who had undiagnosed thyroid problems as an infant and is brain damaged as a result Not that that sort of thing is common AT ALL, but this test seems responsible to me.

[2Sweeties1Angel]

We do the newborn screening because DH and I are both carriers for Galactosemia. It's necessary that we find out if our kids have it right away because if they did, breastmilk or dairy based formula would kill them. So far we've had 2 carriers and one that came back totally negative.

I've had hospital births so it's been done in the hospital. This time I'm having a UC. Is there anyway to do the test myself and send it off to a lab, or do I have to have the Ped order it?

[mwherbs]

here is a site that is a company that offers a bigger grouping of tests than is offered in any particular state- so far--
http://www.pediatrix.com//homepage.cfm

there may be info that would help OP and the above poster---

[boobjuice]

i have heard of a PKU test that draws blood from the vessel on the back of the hand, which is painless, easy to get blood from, however requires more skill. perhaps you could google search it and try to request it instead of the heel stick version. ps i also read that this test has different results to read from than the heel stick one.

[meggles]

Even though it is mandated by state law, you can still refuse the test. You can refuse ANY test at ANY point.

My friend's son had his blood drawn from his hand, and it was extremely painful/traumatic for him (he screamed bloody murder and it just about broke my friend's heart). So, I wouldn't say that this method is neccesarily better than the heelstick.

[mwherbs]

each state mandates the kinds of tests be made available to all no matter their ability to pay-- the legal requirements are all on medical providers and instutions to provide for- or else get a waiver from parents who wish to refuse-- basically they have to legally account for doing or not doing a test.
and if you think about it we all want it to be this way we would not want a care provider to decided that they just were not going to test our kids for what ever reason-this should be our decision to make as parents.

[mamaverdi]

Originally Posted by musemor

That being said, I felt that most of the serious diseases tested for in the newborn screening would be apparent by six weeks. Basically all of the metabolic diseases would be apparent.

This isn't true. At all. Sorry.

I know many families that their first indication that their child had a metabolic disease was that the child was dead. At 2 1/2 years old. Or in the ICU.

www.savebabies.org Has information on supplemental newborn screening. Many states now perform more tests than just the 4 and 7 that my sons were tested for, but still not as many as are available.

Supplemental screening is not expensive and provides a more expert look than what is available through each state individually.

[mamaverdi]

Originally Posted by mwherbs

here is a site that is a company that offers a bigger grouping of tests than is offered in any particular state- so far--
http://www.pediatrix.com//homepage.cfm

there may be info that would help OP and the above poster---

Thank you for posting this mwherbs....

If you think the heel stick is bad, consider this: my children will have to have a skin biopsy to definitively diagnose a their metabolic disorder. If that shows nothing, we will move to muscle and then the liver.

[RockStarMom]

I just wanted to add that if you have it done, have them warm baby's foot beforehand and NOT squeeze baby's foot. We had it done and the hospital didn't do those things, and it was SO traumatic for my daughter(and me), and I realized later that it usually doesn't have to be traumatic at all. If I have another baby I think I'll have a midwife do it.

[mwherbs]

the expanded test includes cystic fibrosis- and that is not done in every state- one gal who I assisted but who had a UC her baby was discovered to have cystic fibrosis just a bit over a year old. what happened was they rarely go to the doc- but they did want vaccines - well they delayed getting the first one and after the first one the baby seemed to be sick all the time- but she also thought well the other kids were sick too- so she delayed #2 shot but eventually had them and after that the baby was never well- and lost weight and was hospitalized, breathing problems and so thin - local doctors were idiots and told her it was because of breastfeeding that she was "starving" her baby- but at the bigger children's hospital they praised her breastfeeding and said that they almost never dx a baby so old because they usually get sicker, much quicker.
I think that ever after this family did have the CF test for all their babies- actually I think that it changed their "community" and all had testing from then on.

[mamaverdi]

Sounds exactly like my experience. Only I still don't have a diagnosis for my boys. If it turns out to be something on the expanded newborn screen, I will be very very upset. Especially since my ds2 was in the hospital in Utah at 5 days old, and they had the capability to do the testing and didn't do it....even though they weren't offering it state-wide yet.

[LittleOne03]

My sweet 6 week old was diagnosed by her intial newborn screen with a metabolic disorder (biotinidase deficiency). Thankfully, because we found out when she was only 5 days old, we were immediately able to start treatment and she should never show any ill effects from it. We had never even HEARD of it before, let alone known that we were carriers for it. Ill effects could have manifested immediately, or it could have waited several years, and she could have died from it, had we not gotten an accurate diagnosis. As it is, she will take a large dose of biotin (a water solluable B vitamin) daily for the rest of her life, and she should never have any ill effects at all. I know that these disorders are very rare, BUT I would hate to have not done the test and later found out that we could have prevented any irreversible damage by having it done early on.
ETA: The deficiency that she was diagnosed with is also one that the testing is accurate immediately following birth, so baby doesn't have to be drinking milk for 24 hours for all of them to be accurate, just for some of them.

[mamanurse]

Originally Posted by boobjuice

i have heard of a PKU test that draws blood from the vessel on the back of the hand, which is painless, easy to get blood from, however requires more skill. perhaps you could google search it and try to request it instead of the heel stick version. ps i also read that this test has different results to read from than the heel stick one.

Baby must be at least 24 hours old. I'm not sure how old the baby can be for the test to still be accurate.

Originally Posted by meggles

Even though it is mandated by state law, you can still refuse the test. You can refuse ANY test at ANY point.

My friend's son had his blood drawn from his hand, and it was extremely painful/traumatic for him (he screamed bloody murder and it just about broke my friend's heart). So, I wouldn't say that this method is neccesarily better than the heelstick.

You CAN refuse the test, but I believe it's one worth doing. Those metabolic disorders, while rare, are not something to mess around with.

I don't recommend the hand draw. I've seen it done by a midwife and didn't find it to be any less traumatic than a heelstick.

Originally Posted by RockStarMom

I just wanted to add that if you have it done, have them warm baby's foot beforehand and NOT squeeze baby's foot. We had it done and the hospital didn't do those things, and it was SO traumatic for my daughter(and me), and I realized later that it usually doesn't have to be traumatic at all. If I have another baby I think I'll have a midwife do it.

Hospitals are not supposed to warm baby's heel up, but most do because the blood will come out easier. You can definitely warm up your own baby's heel prior to the procedure though.

I've done many many PKUs and there are very few that I haven't had to "squeeze" baby's heel. I do more of a "milking" motion as it seems to be more gentle and comfortable for the newborn. If baby is a "good" bleeder, then the test is really short and not much squeezing is warranted.

[maxmama]

I've done I don't know how many PKUs, and always warm the baby's foot. It's policy in some hospitals to do so. I also have the parents hold the baby upright, and rarely need to milk or squeeze the foot. In fact, because it lyses RBCs, it can cause problems with the test to squeeze.

Also, whoever said it's painless to draw blood from a hand vein hasn't done very many newborn draws.