Do they do pku in the hospital and at the ped's office?

[jedibunni]

I am due any day now and I didn't even think about this one! I think I am going to waive the eye ointment, vit k and hep b......

But I heard that they do to PKU tests? Is there a reason?

Thanks in advance!

[Crisstiana]

A hospital will be able to do PKU newborn testing. As for clinics, it depends on whether your clinic has a lab equipped to run that test.

Newborns are tested for PKU because if they are positive most will need to go on a specific diet to prevent brain damage. In severe cases, brain damage will start to occur within a month on an improper diet.

PKU is pretty uncommon but not rare. In the US, PKU occurs in about 1 out of every 10,000 to 15,000 newborns.

Here are some links with more info:

From the U of MN's PKU program: Understanding PKU

From the NIH: Phenylketonuria

[lyttlewon]

Originally Posted by jedibunni

I am due any day now and I didn't even think about this one! I think I am going to waive the eye ointment, vit k and hep b......

But I heard that they do to PKU tests? Is there a reason?

Thanks in advance!

We got a script for PKU and had to go to a lab. It would be easy enough to just not show up at the lab.

[RoadBuddy]

If you're in the US, all states do it in the hospital. You can also see if your doctor will do it. Of course, you can refuse.

However, I personally think it's important - I'm doing it, and skipping everything else. The test checks for 20 or more diseases, most of which can be easily treated if diagnosed early, but super-serious if left untreated. PKU, of course, and also thyroid problems and all sorts of other things. It's a blood draw, which stinks, but it's not like a vaccine/drug where artificial things are going into the baby. I think it is more accurate if done after 48 hours (hospital does it at 24), so we're doing it then.

Anyway, it's totally up to you...just know your options and your rights to have it or refuse.

[grumpybear]

We did one PKU at the hospital and another at the doctor's office about a week (or two? i forget... : ) later...

[chinaKat]

I can't imagine turning down such an important test.

It's fine to be vigilant about not doing things "just because" but please be aware of why some of these tests are done when you are saying no.

[DoomaYula]

I thought PKU was more accurate when the baby was at least a few days old?

[DoomaYula]

Here's some info from gentlebirth.org

[paquerette]

I think it's a good idea to wait until your milk comes in, for optimal accuracy. Many places do them in the hospital and again at the first visit, which seems like pointless torture of a newborn to me.

[HeatherB]

Absolutely, do the PKU! It's one of those things where it can make a huge difference in your baby's life - there's something to be DONE with the results, kwim?

From what I understand, the first draws aren't that accurate BUT hospitals do it as a sort of CYA - because once you leave they can't guarantee you'll go to a pediatrician for the next one. Certainly there are cases where people WON'T pursue it once they leave, so maybe that's not a bad thing - but it's not essential to have it done so early, either, by my understanding.

I will probably wait until 2 weeks to have it done this time unless I go read something to advise me otherwise! (But we're homebirthing and my MW doesn't do the heel sticks on babies!)

[ericswifey27]

Originally Posted by RoadBuddy

If you're in the US, all states do it in the hospital. You can also see if your doctor will do it. Of course, you can refuse.

However, I personally think it's important - I'm doing it, and skipping everything else. The test checks for 20 or more diseases, most of which can be easily treated if diagnosed early, but super-serious if left untreated. PKU, of course, and also thyroid problems and all sorts of other things. It's a blood draw, which stinks, but it's not like a vaccine/drug where artificial things are going into the baby. I think it is more accurate if done after 48 hours (hospital does it at 24), so we're doing it then.

Anyway, it's totally up to you...just know your options and your rights to have it or refuse.

yes, this is one of very few routine procedures that I will defiinitely consent to, for the reasons mentioned above. I've heard to wait atleast 3 days before doing it though.

Originally Posted by chinaKat

I can't imagine turning down such an important test.

It's fine to be vigilant about not doing things "just because" but please be aware of why some of these tests are done when you are saying no.

With my first birth it was trust everything the doctor says, because they *must* know it all. Now that I am more informed, I'd rather the doctor prove to me why it's necessary. It sounds like that's exactly what the OP is trying to do- to get some advice now so she doesn't have to make a blind decision. You said *some of these tests*. In your opinion, which ones are important and which are not?

[AugustLia23]

I honestly don't see the point in doing the newborn screen in the hospital, but I will definitely be doing it. We did it with #1 who was born in hospital, but it is most accurate once the milk has come in, after 3-4 days. So they had to do it again at the pediatricians office. With #2, he only had it done once, at home by our midwife. This time, we will be doing it only once around 3-4 days.

I definitely think it's important. We too will be doing no other injections, but the newborn screen found my sons hemoglobin trait, which doesn't affect him, but could affect his children.

[Claire and Boys]

I agree it is very important to do. Imagine if you did not do it and you actually had a child with PKU...doesn't bear thinking about, the consequences

[MCatLvrMom2A&X]

When I had dd in the hospital they did the test there when she was 2-3 days old. I had ds in a birthcenter with a mw and he had the pku done there on day 3 by the visiting nurse. Who couldnt come to my home so I had to go there because I live to far away.

[lyttlewon]

Originally Posted by YumaDoula

Here's some info from gentlebirth.org

I am with them on the heel stick being brutal. DD wouldn't bleed for anything and they kept squeezing her foot and she was screaming at the top of her lungs. It had to be frightening and painful.

[ani'smommy]

Argh. I didn't realize it was so brutal. And does the blood really have to fill 5 1 INCH circles?! I didn't realize it was that much.

What about warming the heel first, etc.? Anything else to make it less painful? We're waiving everything but we are seriously considering the PKU.

[Jenlaana]

I think that its an important test. BUT I would NEVER NEVER NEVER have it done in the hospital after my DD's PKU test. We had her at home UC, and when we took her to the ped for her first visit at 10 days old, they freaked because we didnt do it and sent us to the hospital. The nurse didnt even want us in the room with her when she did it, but we insisted. She kept squeezing and squeezing my DD's poor little foot over and over again, and she was screaming so much. It broke my heart. I refuse to believe that any test requires that much pain. The nurse didnt seem to think it was a big deal what so ever. Needles I understand, and this test I understand, but the way it was done, the environment and the coldness of the room (literally and figuratively) not to mention the coldness of the nurse, were completely unnecessary. My sister is a nurse and says "they won't remember so its no big deal..."

I am going to either have it done at the ped's office this time, or order the test and do it myself or ask a local midwife to come do it.

[chandasz]

They warmed my dd's heel first-- didn't help. We had to do it 2ce since they didn't fill the bloody circles right the first time. It was AWFUL BUT it would have been much more awful to have had something be wrong and not know.

To make it less painful-- I'd advise nursing during the heel stick. Don't let them tell you that you can't. Don't let them tell you that crying will make the blood come faster and be over faster. All bull-- that's what they told me.

[ani'smommy]

How sad that they said crying would help. We're having a homebirth and my midwife will be doing the test. So there isn't a risk of the babe being put off nursing because of the pain association?

[chinaKat]

Originally Posted by ericswifey27

With my first birth it was trust everything the doctor says, because they *must* know it all. Now that I am more informed, I'd rather the doctor prove to me why it's necessary. It sounds like that's exactly what the OP is trying to do- to get some advice now so she doesn't have to make a blind decision. You said *some of these tests*. In your opinion, which ones are important and which are not?

The research I've done has led me to believe that the March of Dimes recommended screenings are important. Very important. I'm sure somebody will come along and tell me I'm full of crap, but frankly I would rather take a little blood than risk missing any of these problems, all of which depend on EARLY DETECTION for treatment.

Core Group of Newborn Screening Tests Recommended by the March of Dimes
June 2004

MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY

Incidence: 1 baby in 20,0002

An inherited disorder of fatty-acid metabolism caused by the lack of an enzyme required to convert fat to energy. Seemingly well infants or children can suddenly develop seizures, respiratory failure, cardiac arrest, coma, and death. Identifying affected children before they become ill is vital to preventing a crisis and averting these consequences. Treatment includes steady food or glucose intake and avoidance of fasting.

PHENYLKETONURIA (PKU)

Incidence: 1 baby in 14,0001

An inability to properly process the essential amino acid phenylalanine, which then accumulates and damages the brain. PKU can result in severe mental retardation unless detected soon after birth and treated with a special formula. Affected individuals must be kept on a low phenylalanine diet at least throughout childhood, adolescence, and for females, during pregnancy.

CONGENITAL HYPOTHYROIDISM

Incidence: 1 baby in 3,0001

A thyroid hormone deficiency that severely retards both growth and brain development. If detected soon after birth, the condition can be treated with oral doses of thyroid hormone to permit normal development.

CONGENITAL ADRENAL HYPERPLASIA (CAH)

Incidence: 1 baby in 19,0001

CAH refers to a set of inherited disorders resulting from defects in the synthesis of hormones produced by the adrenal gland. Certain severe forms of CAH cause life-threatening salt loss from the body if undetected and untreated. Treatment includes salt replacement and hormone replacement.

BIOTINIDASE DEFICIENCY

Incidence: 1 baby in 60,0001

Biotinidase is the enzyme that recycles biotin, a crucial B vitamin. Biotinidase deficiency may cause serious complications, including frequent infections, uncoordinated movement, hearing loss, seizures, and mental retardation. Undiagnosed and untreated, the deficiency can lead to coma and death. If the condition is detected soon after birth, these problems can be prevented simply by giving the baby extra biotin.

MAPLE SYRUP URINE DISEASE

Incidence: 1 baby in 230,0001

A rare inborn error of metabolism that is lethal if unrecognized and untreated. There is a wide spectrum of this condition from mild to severe. Affected babies appear normal at birth but soon begin to have neurological symptoms. It is unusual for severely affected babies to survive the first month, and those who do usually have irreversible mental retardation. Rapid diagnosis and treatment are major factors in survival and mental development. Therapy consists of a special diet that requires frequent monitoring and must be continued indefinitely.

GALACTOSEMIA

Incidence: 1 baby in 50,0001

Affected babies are missing the liver enzyme needed to convert galactose, a major sugar found in milk, into glucose, another simple sugar that the body can use. Galactose then accumulates in and damages the vital organs, leading to blindness, severe mental retardation, infection, and death. Milk and other dairy products must be eliminated from the baby's diet.

HOMOCYSTINURIA

Incidence: 1 baby in 340,0001

A rare deficiency in the enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed by the brain for normal development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, which for many patients includes high doses of vitamin B6 or B12, although treatment is not completely effective.

SICKLE CELL ANEMIA

Incidence: 1 baby in 3,7001

Higher incidence among African-Americans (1 baby in 4003); less common among babies with other ethnic backgrounds

A blood disease that can cause severe pain, damage to the vital organs, stroke, and sometimes death in childhood. Young children with sickle cell anemia are especially prone to dangerous bacterial infections such as pneumonia and meningitis. Vigilant medical care and treatment with penicillin, beginning in infancy, can dramatically reduce the risk of these adverse effects and the deaths that result from them.