Abnormal newborn screening results

I just gave birth to my 2nd son 2 weeks ago. My ped just called me & said that his levels for congenital adrenal hyperplasia came back abnormal. Anyone have any experience in this? He said I should have seen signs of it by now if he does have it... But I'm still a little worried. I googled it but am still a bit confused as to what it is

TIA

Re: Abnormal newborn screening results

I would see a pediatric endocrinologist. My nephew was diagnosed with this at around age 7 or 8, but a more mild type. The only problems my sister noticed at that time was that he was starting to get body odor and some hair on his legs, when he was too young for it. I don't know a lot about it, honestly, but it hasn't caused him any problems, but they did see an endocrinologist. I know they ran a bunch of bloodwork at the time.

Abnormal newborn screening results

I just went through this and I am so happy to have found your post, as when i was in your shoes i searched for topics like this one and never found anything, so I am hoping this calms your nerves as I 100% felt the same way. I was full of worry.

I had my 2nd son on December 1st, and we must of had to repeat this test about 5x. When we finally received a result, it came back like you abnormal as one of his Amino Acids were elevated and he had to repeat the test. Those 2 weeks were the worst!

With this test, the way they do is the same way since 1960, they have to squeeze blood from the baby's heel and fill 5 circles and if it
not done properly it can come back abnormal, inconclusive...believe me I have done my fair share of research. I had to repeat this 5x...either the sample of blood was too small...since they are testing for over 30 illnesses...this is a screening so it's very easy to get a result like that. Of course I spent the entire weekend on the internet and I was so worried. I just couldn't help myself.

Like your doctor said, the side effects my son had none. But, my doctor told me if comes back again we need to go see metabolic doctors at Mt. Sinai and I was so freaked out.

To make a long story short...please do not worry as it's very hard not to worry....but i asked the doctor, should he not eat before the test? When I did my research, it did say not too eat. He said no...it's fine and after I told him what i found, he called the state and they did say not to eat at all. We also made sure his foot was very warm when they drew the blood, so they would get a good sample.

Are they having you repeat the test?

It was very stressful for me as he was no longer a newborn and I was so worried due to his age, but if the test is not performed right you can get these abnormal results.

Like you, we have another child and they were fine, so I am sure it was juts a bad sample.

If you have any questions please send me a message!

Abnormal newborn screening results

Also, keep in mind this is a "screening"....if it comes back again abnormal, then they send you to take a test to see if you "actually" have a disorder. Also, I learned that the number scale is very low as they are used to detect disorders, so anything can make a number fluctuate, which can lead to a "abnormal" result. That is why they did not want my son to have a bottle before the test, it could affect the results. So, I fotgot to add the most important part of this story...we repeated teh test and I must of called everyday...and 2 weeks later we received teh best news...NEGATIVE!!! Everything was fine...so keep foucsed on that your baby is healthy, no symptoms and you have another child that is fine. I have read that with hereditary disorders, if one child has it then the sibling will have it too....that kept me staying very optimistic.

Re: Abnormal newborn screening results

CAH is a genetic hormone disorder. Comes in two severities classical and non classical. Typically boys with Classical CAH (salt wasting) become dehydrated easily. Symptoms to watch for are ones that are consistent with dehydration.... Lethargy, weight loss, vomiting. This is the most severe kind. Along with boys with classical CAH, boys with non classical can go through puberty early, can be on the hairy side, may have some acne, and may have more naturally muscular physique.

I believe they use steroids to help with symptoms. Boys with CAH can live very normal lives. (It's as intrusive as being a diabetic)

Girl with a severe form of CAH CAN be born with what looks like a penis. Later in life as they go through puberty they may develop facial hair, small chests, and often have cystic ache. They also can develop pubic hair early. Being a girl with classical CAH CAN be rough, but there are treatment options. If you suspect you could have a child with CAH and don't know if your LO is a boy or girl, a MFM can do a tx plan to decrease symptoms.

Non classical CAH girls also live very healthy lives. No to little ambiguous genitalia and with some mild steroids or a good dermatologist can live healthy lives.

Message edited 3/20/2014 4:44:09 PM.

Re: Abnormal newborn screening results

Thanks everyone! His ped is having me redo the blood test today & then we'll see from there. I'm not too worried yet

Thanks again!