Newborn blood tests

bam_bam · Oct 15, 2004

I know they test for several diseases/disorders when babies are born-usually about nine. My son had them done when he was born in July...all normal thank God. I was recently talking to someone whose niece has the disorder where her body doesn't metabolize protein. Does anybody remember the name of this? I will try to look it up, of course. Anybody also know the rest of the tests they run? Thanks :)

Phenylketonuria (FEN-nil-KEE-tone-u-ree-ah) - also called PKU. A component of food protein (phenylalanine) cannot be broken down by the body due to lack of an enzyme. Brain damage, which would normally result, can be prevented by a special diet low in phenylalanine. Occurs in about 1 of every 19,000 newborns.

I have seen very bad brain damage in a child that PKU wasn't caught early enough. As long as they follow the diet, everything should be fine.

eta: this definition came from www.wadsworth.org

palesarah · Oct 15, 2004

I didn't realize how long the metabolic newborn screening had been in place- I work with a nurse with mild PKU disease, which was caught with the newborn screening after birth (she's in her early-mid 20s now). She had to be on the special diet as a baby and young child, and now only has to be on it when pregnant or trying to conceive.

Poor thing, it's an awfully restrictive diet- basically no protein, few carbs, and unlimited fruits and veggies. She also takes special supplements in pill form (she's pregnant with her 2nd baby now, drank a special formula instead of pills with the first pregnancy). But, high levels of phenylalanine during pregnancy can cause brain damage in the fetus, so it's well worth it.

The OP also asked about what other tests they run- it varies by state. I did a google search and found http://www.aboutnewbornscreening.com/, which seems to have a good FAQ page and also shows what disorders each state tests for.

MedLJ801 · Oct 16, 2004

I didn't realize how long the metabolic newborn screening had been in place- I work with a nurse with mild PKU disease, which was caught with the newborn screening after birth (she's in her early-mid 20s now). She had to be on the special diet as a baby and young child, and now only has to be on it when pregnant or trying to conceive.
Poor thing, it's an awfully restrictive diet- basically no protein, few carbs, and unlimited fruits and veggies. She also takes special supplements in pill form (she's pregnant with her 2nd baby now, drank a special formula instead of pills with the first pregnancy). But, high levels of phenylalanine during pregnancy can cause brain damage in the fetus, so it's well worth it.
The OP also asked about what other tests they run- it varies by state. I did a google search and found http://www.aboutnewbornscreening.com/, which seems to have a good FAQ page and also shows what disorders each state tests for.

Thanks to both of you who posted so far. It's scary when you think about what can happen to babies these days; I'm so grateful my little man is okay. :) :balloons:

shay · Oct 17, 2004

I'm pretty sure they also screen for sickle cell and thalassemia, don't they?

bam_bam · Oct 18, 2004

New York tests for 12 different things, PKU is the original test. In addition they also test for

HIV

cystic fibrosis

congenital adrenal hyperplasia

medium chain acyl-CoA dehydrogenase deficiency

Biotinidase deficiency

Sickle Cell Trait

Sickle Cell Disease

Hypothyroidism

Homocystinuria

Galactosemia

branched-chain ketonuria aka Maple Syrup urine disease

It depends on what state the baby is born in. Here is a link you can check state by state. http://www.aboutnewbornscreening.com/stats.htm

SmilingBluEyes · Oct 18, 2004

It depends on your state as to what tests are run, as stated above. It may surprise you how many tests are available and how FEW are run in certain states.