Failed Newborn Screening

caitdana

So almost 6 months goes by and we just found out Sophia failed her state mandated newborn screening. Anyone else have this happen? Any go through this?

caden

We went through that. It was a nightmare, even worse than my IF journey through hell. BUT we had a happy ending. I'm surprised you're just now finding out. Was there a snafu at the state lab? 

My DS1 tested positive for Glutaric Acidemia, which is a metabolic disorder. I found out when he was 1 week old. At first doctors thought he had Type 1, then they thought Type 2, which is almost always fatal. Super fun to hear that word "fatal". : ( He underwent multiple urine and blood tests and each were positive. Then they did a DNA test b/c his previous lab results were confusing. The DNA test came back normal. So they reran my son's specimens again at an out of state lab (mayo clinic) and they were finally normal. So his case was officially dismissed when he was 2.5 months old. I won't bother you with descriptions of how horrible those 2.5 months were. I felt like I was in hell. I learned through that though that preemies OFTEN have false positives. My son even had repeat false positives. So don't lose hope! Have you been referred to a children's hospital in your area?

If you don't want to share details publicly feel free to PM me. : ) 

kafunder

Both DD and DS failed their newborn screening. For DD, one of the tests for some metabolic disease came back as "inconclusive", and we had to retest. DS's levels for some test for a different metabolic disease came back in the abnormal range. We had to go take the tests again, and they both passed the second time. Turns out, DD's problem the first time was due to problems at the lab, and DS's first test was just weird. They said they get a lot of false positives on some of the tests.

Good luck! I was worried sick, but it all turned out fine.

kafunder

Like caden, they also told us that premies often test positive even though nothing is wrong b/c the hormones and chemicals they are testing for are often out of whack for the first few weeks, unlike in full term babies.

caitdana

Thanks guys. DH and I are flipping out a bit.  The dr wouldnt talk much about it on the phone today but tomorrow when we go in tomorrow for the blood draw I will definitely get more answers. The girls are identical so we are praying that because Ella's test were negative that Sophia's tests were a false positive. But since Ella has  heart problems and Sophia doesnt we are well aware that they can have different health issues. They took the test 2 days after birth and because they were so early we had not picked out a pedi yet. A lot of the medical focus was on Ella because of her heart.  So they may have forgotten to tell us about it when they were giving us updates on both girls at once.  They switched to the region's best children's hospital at 6 weeks so Ella could have her heart surgery. They didnt tell us anything about it either. Sophia came home and went to a pedi who we ended up not liking after a month so we switched and just now things have calmed down and the pedi called me out of the blue to get us to come back in for the testing.

We both just feel defeated. We couldnt enjoy our pregnancy because of the worry of TTTS and IUGR and all the specialists and dozens of dr's appts.  We could enjoy the birth of our first children because of their extreme prematurity. Then came on all their health conditions and every time we think we are in the clear and can start to enjoy life as our family unit with out machines, oxygen tanks, hundreds of dr's appointments, something else like this comes up. We have overcome so much to get here, I just hate that it is one more blow to test my faith.

caden

I'm so sorry. You've clearly been through enough and do not need this stress.

I also find it interesting that only one of your IDs tested positive for it. Did they tell you the name of the disease Sophia tested positive for? I was surprised that even my kid's metabolic disorder was a genetic condition. So if hers is also a genetic disease, and Ella is fine then in my unqualified opinion it's probably a false positive. My kid's doctors were also trying to keep my hopes up by telling me my kid had no symptoms, which was not normal (in a good way). Of course it depends on the disease, whether or not you can see symptoms in an infant, but in my son's case there should have been symptoms present. So that's another thing that may help you.

When I got the phone call about the test, I literally cried on the floor of my bedroom for 3 hours straight. The doctor felt so sorry for me that she gave me her personal cell phone number to call -- that's how pathetic I sounded. I had family over and one by one they came up to my room to try to talk me off the ledge. I don't even remember what anyone said b/c I was crying so hard. So I can only imagine that frustration and turmoil you feel right now. It's awful. I hope Sophia gets retested asap and you get your Big Fat effing Negative pronto so this can be a small blip on your radar ((( hugs))). If it's just a blood test or urine test, they can get those results back pretty fast.

ETA: I also wanted to say that I wonder if they didn't mention Sophia's results b/c they were just barely positive, and doctors thought it was likely to be a false positive. When my son's newborn screening came back, it was positive but not so high that it was a definitive diagnosis. The next one that showed he had GA-2 was very positive and when that happened things got very serious fast. I don't think if Sophia had a very positive test of a serious disease they would have failed to mention it.

keg

I got a letter saying my child failed their testing (they didn't even identify which one).  When I called, they told me who it was and that she had failed one of the tests by one point.  However, she was retested while still in the NICU and passed.  I think they false positive rate is pretty high so I wouldn't stress until you get more information and have her retested. 

shellshavintwins

My baby b failed hers and I had to take her back to the hospital at 5 days old to have it redone it was nerve wracking for sure. I was glad it was a false positive they think had to do with her low birth weight.

April320

DS failed one of his initial screening tests as well.  We had to bring him back to the pedi when he was about 2 weeks old to draw more blood to repeat the test.  The doctor assured us that false positives are very common, and he'd never actually seen one come back as a true positive.  We repeated the test, and it was normal, but it was extremely stressful while we waited for the results.  It seems false positives are pretty common, since the state sets the screening level pretty low to be sure to catch all cases.  Hopefully you get good news once they repeat the test!

kellycares

Hi CaitDana,

What state do you live in? No newborn screening (NBS) should take 6 months to get the results to you, even if the baby was a preemie and underweight! This sounds like a system failure. I hope you call the state NBS program and report it so they can find out why it took so long.

The purpose of newborn screening is to get the results to parents right away in order to allow early treatment of certain disorders. One NBS test that might be a false positive in very low birthweights is CAH. This is because very low birthweight babies are often under stress causing their adrenal hormones to rise.

I hope you are following up with your health care provider. Good luck and I hope it is nothing.