PKU, Infant Screen question

[Munchkingirl]

I have been trying to research the stats on the chances of having a problem in multiple children if the screenings have been negative in earlier children.  We have 4 kids, all had the screenings and all were negative in all areas.  My husband and I don't have any known issues with us or our families.  Does anyone know the possibilities of having a positive with child #5 for something that wasn't there with the other 4?  I have been giving myself complete prenatal care this time and wasn't really planning on seeing the midwife after the birth either, so was trying to weigh my options (pro/con) of having or not the screening done.  I am not for or against it, just don't want to make it an issue if it isn't.  Thanks for any links or just plain ole thoughts.

[sapphire_chan]

http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Phenylketonuria.html

My understanding from the above is that the disease isn't going to show up until someone has the misfortune to get the wrong pair of genes. There is exactly as much chance with this kid as with all your other kids.

[elevena true]

a true pku positive is incredibly rare and i personally have never opted to give my brand new baby a heel stab "just it case."

it is also a super sensitive test, so should one get a positive reading, it can very well be a flase positive.

i'm sure there are many stories where the heel stab saved a baby's life, i just felt like it was a big production for a small chance. i am also one who does not opt for rhogam.....putting the known harm before the possible risk. not exactly answering your question, but putting my perspective out there.

[~~Sarah~~]

Originally Posted by elevena true 

a true pku positive is incredibly rare and i personally have never opted to give my brand new baby a heel stab "just it case."

Yes PKU is an incredibly rare disorder, but they test for many disorders with the standard "heel-prick" metabolic screening. Depending on where you live, they test for about 30 - 50+ disorders. Some of these disorders are incredibly rare and others less so, depending on your genetic background.

I'm not saying "do it", I didn't, and won't again next time. But have the right information to make your decision.

[sosurreal09]

We did it at the ped when she was like a week old.

[Peony]

I've done it and not done it with different children. One I also did at the pedi office at a week or so. 

[sharita]

It's required by law in our state and CPS will actually step in if they find out you haven't done it.  I personally have always done it because my neighbor's littel girl was diagnosed with PKU and is perfectly healthy because of early detection. 

Me personally, I agree all the things they test for in the metabolic screen are very rare but I look at it like its only a little heel prick and an hour or so our of my day to drive to the ped and take it.  Its unlikely baby will have any issues but in the case they did and I didn't catch it early and there was long term issues because of it I would never forgive myself so I feel for me personally its the right choice.  I don't disagree with anyone who forgoes it though.

[elevena true]

i do know that there are more metabolic disorders that get tested for in the newborn screening, but pku refers directly to the testing phenylketonuria (pku). as far as the newborn screen with all of the metabolic disorders, they do range in rarity, but they are all pretty rare, and there has never been an instance in my case or daddy's family history/etc. to feel baby's chances might be increased.....they feel off my radar, but in the case that i had a feeling to go for it, i certainly would.                    

                   just saying, i have done my research, perhaps pregnancy mush brain caused me to cut corners and not elaborate on all fronts.

also, i do know that for pku at the very least, they can do a urine test once baby is older- no blood required.

Originally Posted by ~~Sarah~~ 

Yes PKU is an incredibly rare disorder, but they test for many disorders with the standard "heel-prick" metabolic screening. Depending on where you live, they test for about 30 - 50+ disorders. Some of these disorders are incredibly rare and others less so, depending on your genetic background.

I'm not saying "do it", I didn't, and won't again next time. But have the right information to make your decision.

Edited by elevena true - 6/6/11 at 3:15am

[sosurreal09]

I was under the impression it did tests for several things as well.

[dayiscoming2006]

It really didn't seem like that big of deal to do it this time. Had an UC and my family doc just ordered me the tests. He said I was welcome to choose whether or not I would do whatever tests but he highly recommended doing the metabolic screening. That is the only test we decided to do. It took like 5 minutes or less. Sure baby didn't like it but she was just fine once it was over and she was back with me. 

[Munchkingirl]

sapphire_chan thank you for the link. Right now I am just trying to get as many facts about it as possible and weed out whatever may or may not be myths or fears.  I don't feel it is wrong or damaging to the baby (It is different than something like circumcision) in my opinion.  I completely understand the benefits and that is why my other 4 had it done.  I was just seeing if it would ever become a non issue with more children born to the same parents.  I wish I could just do it and send it in myself, but Iabs around here "have" to have a dr or mw authorization.  Thanks for all the input and opinions. :)