I was wondering if anyone knew anything about the newborn screen in the state of New York. My one month old daughter came up with a positive newborn screen for CF . Her pediatrician called and said that she has to have a more extensive blood test done. My husband is a carrier of CF, but I tested negative. Does the postive screen means she most likely has CF or could she be a carrier? My pediatrician did not know! We are worried. Does anyone know how long the blood work takes to come back? Should we ask for a sweat test? My husband carries the gene D508 (correct me if I wrote it wrong). His brother and his wife are carriers which is how we even came to be tested. We have a 7 year old little girl and a 3 1/2 year old little girl. Our 3 1/2 year old, Madelyn has ataxic cerebral palsy. It took several years to diagnose. When I got pregnant this time, I was worried about something like that, not really CF since I am not a carrier. Do you know of any people who 1 tested neg and 1 tested positve? The baby, Ella, is doing fine so far. My husband is active duty in the army and we just moved to NY which is why I don't know about the newborn screen. I would appreciate any insight. Thanks so much
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Newborn Screen Positive
- Thread starter mom3girls
- Start date
Do you know where your blood work was sent for your carrier test? There are three labs they could be sent to. One lab only tests the 15-20 most frequently seen mutations, and another only tests about the top 80-100. Only Ambrey Genetics tests for the over 1000 mutations that have been found. If you have a rare gene mutation the other two labs may not have tested for it. I don't mean to scare you but I have a very rare mutation and my husband has DF508. The CF team told us that had our daughter's blood work been sent to another lab they might not have detected the second rare mutation.
My brother (who is in the military) had his blood work done and was negative. However, the lab only tested for the top 15 common mutations. Hope this helps.
Maria (mother of three daughters, the youngest, Samantha w/cf)
My brother (who is in the military) had his blood work done and was negative. However, the lab only tested for the top 15 common mutations. Hope this helps.
Maria (mother of three daughters, the youngest, Samantha w/cf)
There are CF genes that are not found in any available testing....my husband has a son with CF and he has tested negative to all tests out there(Ambrey genetics included).When you are tested in the hospital they usually only test you for the most common genes...say 15-35 different mutations, but there are over 1000 mutatiuons!! Not to scare you ... but even if you are not coming up a carrier there is a possibility that you are a carrier. Have a sweat test done on your child. It is the only way. When my son was born he had a sweat test and the results were avaible after 24hrs.
I checked our blood test results. I tested negative for 32 different mutations. So, now I know it is still a possibility that she has it. I just don't understand the newborn screen. I sort of think if your screen came back positive, that would mean you have it. I have never heard of a screen that tests whether or not you are a carrier.... Anyway, thanks for the information.
If her test came back positive then there is a good chance she has CF. They basically test the amount of salt in her sweat. But sometimes newborns have a higher salt content then normal. But if her numbers were way high then she may have CF. There are other diseases that can cause a positive sweat test. The best solution for you is to get a repeated sweat test ASAP. It is the only way to know 100% especially if you have a mutation that is not picked up.
Hi my name is Katina. I am from NY myself.I never new anything about cf until 3 weeks ago when my 3 child was born and hwer new born screen came up positive and had to go to Albany med. for a sweat test and it was positive. They said she is healthy gaining weight and doing well. We just have to pray and hope every day she stays thay way. But with the treatment out there now they say she should live a pretty normal life. Well hope this helps.... I don't no much about the desease but there is treatment....
Katina(mom of Saydiew/cf)
Katina(mom of Saydiew/cf)
According to the NY screening website:
"CF newborn screening is a two-tiered process performed on the standard Guthrie card: 1)analysis of IRT 2) specimens with IRT levels in the top 5% are tested for a panel of CF causing gene mutations. When two mutations are identified, it is consistent w/diagnosis of CF and the baby should be referred to an accredited CF center. Over 1000 mutations have been identified in the CF gene, and this screening includes only a fraction of them. Therefore, babies who have one mutation identified, OR whose IRT is in the top .2% of results without identifiable mutations, are called 'screen positive'."
Since your husband is a carrier of DF508, he probably passed the gene to your daughter, thus causing the positive screening. But, she may only be a carrier. Since you tested negative to the most frequent mutations, your possible mutation wouldn't show up on the newborn screen either. The only way the screening could be more exact would be to test for all 1000 mutations, but unfortunately, that probably isn't cost effective. Is there a way you can find out if she also had her IRT in the top .2% of results? This might point more to the CF diagnosis.
According to the guide, the next step should be a sweat test. Also, it's important to remember that most of the "positive screenings" do NOT end up having CF. (In fact, I think the guide said only about 5% are really positive for cf.)
"CF newborn screening is a two-tiered process performed on the standard Guthrie card: 1)analysis of IRT 2) specimens with IRT levels in the top 5% are tested for a panel of CF causing gene mutations. When two mutations are identified, it is consistent w/diagnosis of CF and the baby should be referred to an accredited CF center. Over 1000 mutations have been identified in the CF gene, and this screening includes only a fraction of them. Therefore, babies who have one mutation identified, OR whose IRT is in the top .2% of results without identifiable mutations, are called 'screen positive'."
Since your husband is a carrier of DF508, he probably passed the gene to your daughter, thus causing the positive screening. But, she may only be a carrier. Since you tested negative to the most frequent mutations, your possible mutation wouldn't show up on the newborn screen either. The only way the screening could be more exact would be to test for all 1000 mutations, but unfortunately, that probably isn't cost effective. Is there a way you can find out if she also had her IRT in the top .2% of results? This might point more to the CF diagnosis.
According to the guide, the next step should be a sweat test. Also, it's important to remember that most of the "positive screenings" do NOT end up having CF. (In fact, I think the guide said only about 5% are really positive for cf.)
Thank you so much! We have been viewing this site all day for answers and we are very grateful for all of your responses. I was wrong about my husband carrying DF508, he is actually a carrier for R117H. Regardless, we plan on requesting a sweat test on Monday and your responses have helped us decide this next step. Thank you all again!
Hi I live in Ma and my son also was picked up through the newborn screening. They found only one gene and his pediatrican thought he would just be a carrier. However we needed to have a sweat test at a cf center to confirm he didn't have cf. Well unfortuately he came back positive. The cf team then started searching for the other gene through blood work. They told us the screening only tested for the top most common genes. They did end up finding the second one. I also had 2 older children that then needed to be tested. They are both carriers. He is 21/2 now and hasn't had any problems yet other than a nose polyp they are watching. So far so good. We have been very lucky.