Newborn Genetic Screen: necessary?

[Jaimee]

I'm planning a homebirth in a couple of months and am wondering about the genetic screen that is "required" by Maryland state law. My understanding is that they check a few days after birth and again a week later to confirm. I'd really like to minimize tests (we also don't vax) and ped visits for several reasons. I found the need to poke and prod my first baby and repeatedly visiting the doctor during those first few weeks disruptive to our bonding process. Not mention it's cold/flu season, so going to the ped's office a bunch seems like a bad idea for the whole family!

My midwife can do the first heel stick for the genetic screen and I could postpone my first ped visit a week in order to time it with the second heel stick. My ped, of course, wants the test done, but I'd rather not bother. This is my second child and my first had a clean genetic screen, none of the tested for genetic disorders run in our family. What is the risk in declining this test? I know some peds might kick you out of their practice, so I understand that is something I'll need to find out, but other than that is there something I'm not thinking about? What about doing just the first heel stick and if there are clean results, waiving the second one?

Thanks for any advice!

[wombatclay]

Well, the thing with the conditions being tested for is that they often occur without a family history. Given that the conditions are serious (and in some cases fatal) if not treated and that treatment should begin as soon as possible to minimize damage/maximize health the screening really does provide "value for money". The heel stick is painful (though nursing during the heel stick, doing it while the babe sleeps, or applying pressure prior to the stick are all good ways to minimize the discomfort) but IMO it's better to be sure that none of the tested for conditions are present.

If you want to minimize heel sticks, can your midwife do the blood draw at a three day visit? That way you'd only need to do the testing once. The "double test" is used because some results are inconclusive before the babe is nursing for a day or so... so waiting a few days to take the blood might be an option for you? And I've seen some people mention that they got the sample kit from their midwife and did the blood draw themselves.

There were a number of threads about the newborn screen recently so if you search the forum you can read a bunch of "takes" on the testing.

Happy birthing!

[*MamaJen*]

I definitely would not skip the heel stick -- the metabolic disorders, if not diagnosed, can be utterly devastating -- but it's my understanding that you only need to do one test? Our midwife did it at one of the home visits (I can't remember if it was the three day or one week visit.) The baby nursed right before and after and barely cried at all. The pediatrician just wanted to know that it had been done -- it didn't matter if she or the midwife did it.
Because the disorders are typically stacked recessives, it doesn't matter if the first child tested negative. There might be no family history for multiple generations.
PKU, for example, can cause almost no ill effects if diagnosed early, but complete mental retardation if not caught. It's definitely worth a heel prick.

[nashvillemidwife]

Do you mean screening for metabolic disorders ("PKU")?

[Jaimee]

I'm referring to the heel prick test given a few days after birth and confirmed a week later. Here's a site that details all the disorders tested for based on state: http://genes-r-us.uthscsa.edu/nbsdisorders.pdf.

I think it's a good point that some of these disorders need to be dealt with right away, so I do see the validity of getting the test done once. I would like to waive the follow up test unless there is an issue. Hopefully my ped will accept my midwife's test results!

[*MamaJen*]

Originally Posted by Jaimee

I think it's a good point that some of these disorders need to be dealt with right away, so I do see the validity of getting the test done once. I would like to waive the follow up test unless there is an issue. Hopefully my ped will accept my midwife's test results!

The midwife just takes the blood and sends it off to the state labs for testing, so I think the pediatrician would have to accept it. And if the midwife does the test after the babe is a few days old, I'm pretty sure you'll only have to do it once. So you should be in good shape.
It's my understanding that hospitals do the 48 hour test even though it isn't particularly accurate because they can't be sure that parents will return and get the test done at a latter date -- so they just do it twice. But a midwife isn't constrained by hospital discharge dates, so she can do it once at a reasonable time.

[hapahaolegirl]

Some disorders that are tested for not only cause mental retardation but death. There is no reason not to have the test done. If nothing else you are getting piece of mind.

I know it may not mean much to most but coming from a mama with a child who has a metabolic disorder (PKU) the test has allowed my son to be treated and live a fairly normal life.

[Bmorefarmgirl]

as the PP said, they do it twice so they have at least one test on the record. the first test is actually not valid, and can often be a false positive, so that is why you do it later. it is valid later on because one of the tests is a metabolic screening, and your baby is not metabolizing much of anything right at birth. once the baby is eating, then the test can tell if s/he is metabolizing food properly or not. if you have a pediatrician, you might want to get a note from him or her saying that you have an appt for x days after birth for the pku test. if not, you might have a harder time getting out of the hospital. if you are having a home birth or birth center birth, you can decline the first screening and do it later at the ped's office.