Women's Health: Postpartum Community
26.1k Members
121828 tn?1333464491

PKU test positive for CF?

My pediatrician just called and informed me that Blakes PKU came back positive for cystic fibrosis, UGH...
I thought both parents had to be a carrier. I know my SIL is a carrier so  my DH could be too. I was negative. Does this mean he HAS it or could be a carrier? ANy advice would be appreciated :(
15 Responses
127124 tn?1326735435
Sorry I can't offer any advice.  Just wanted you to know I was thinking of you and your family.
Avatar universal
I think only one parent has to be a carrier, but I'm not sure on that. I was just reading an article on that a couple of months ago. Now I wish I had paid closer attention to it. I also know that some women who are carriers won't always show positive when in fact they are.

Gee Kellie, I'm so sorry you have to go through all this worry. Is your dh home, or out of town?
Avatar universal
Watever you do, don't go googling it because you are going to scare yourself to death!

What did the doctor have to say about it? Didn't he go into any detail?
130384 tn?1221593027
Oh man!  I bet your stomach just fell to floor!

Yes, both parents have to be a carrier in order for the baby to have a chance at actually having cystic fibrosis.  So your doc must mean that Blake is a carrier.  If you know for a fact you're not a carrier, then Blake can't have it.
159063 tn?1247272817
was this his first or second test,  there is a huge variance in false positive results, let us know what is going on, and good luck to you,

93532 tn?1349370450
My heart dropped just reading the title. What is the doctor's next step? I do remember reading that they require a sweat test if the PKU comes up positive regardless of the parents results.

Keep us posted. As others have said, there is a huge issue with false positives.
121828 tn?1333464491
She didn't say anything about a sweat test. I just went to Quest and had his blood drawn.  And it sux to think I thought the Dr. was so sweet to be calling just to check up on 3 week ole Blake...  The Dr. said if it is indeed CF she will refer us to a specialist (don't remember which kind) I think a lung or heart?  From what I've read, probably lung.  Poor DH is a pilot and out of town. He is crushed, especially because he has to be the carrier because I'm not. Don't worry, he flies cargo :)  My Dr. said 1-2 weeks for the results, Quest said maybe Monday?  So,.....I'll just wait, and read.....
Avatar universal
Oh, Kel...I'm so sorry to hear that but don't worry just yet.  As many have said, there are many false positives with this test.  Are they going to retest?  What's the plan of action?  
437027 tn?1286831178
My heart sank when I read your post.  I had to do some research and hopefully it will help.  Everything I can find says that to actually have the disease, you have to have received a defective gene from both parents.  If you are not a carrier than it seems that your son would just be a carrier but not actually suffer any symptoms.  I hope that this is the case.  I copied some info I found and hope that you get some definate answers soon.
I'll be praying for little Blake.  Try not to let yourself get too freaked out until you have definate answers.  I know that is easier said than done.

There are several ways to help answer these important questions.

Genetic Carrier Testing — More than 10 million Americans are symptomless carriers of the defective CF gene. This test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent.

Each time two carriers of the CF gene have a child, the chances are:

25% the child will have CF;
50% the child will carry the CF gene but not have CF; and
25% the child will not carry the gene and not have CF.
Click here to learn more about genetic carrier testing.

Newborn Screening — Newborns screened for cystic fibrosis can benefit from early diagnosis and treatment, which can:

Improve growth;
Improve lung function;
Reduce hospital stays; and
Add years to life.
While newborn screening is not a definitive diagnostic test for cystic fibrosis, it may lead to tests that can rule out or confirm a CF diagnosis. The Cystic Fibrosis Foundation and the Centers for Disease Control and Prevention recommend screening for cystic fibrosis for all newborns.

A defective gene causes cystic fibrosis. The gene controls the production of a protein that controls how salt is carried across the membranes that separate cells. People with one copy of the defective gene carry it but have no symptoms, which is the case for more than 10 million Americans. However, those who receive a copy of the defective gene from both parents will develop cystic fibrosis.
Avatar universal
I'll pray for good results.  Dont read too much b/c you'll just drive yourself nuts with all the ifs and buts.
121828 tn?1333464491
Girls, I just can't get worked up about it because all I read says that the mom and dad have to be at least a carrier and I'm NOT, I even checked again w/my OB.........
Well, I'm no Dr. but thanks for all your well wishes and I WILL keep you posted :(
171768 tn?1324230099
I am a CF carrier. I found out when I became pregnant. I had a week of the jitters while they tested DH. He is not, so the dr was not concerned at all. The previous posters and what you have read are right- both parents have to be carriers.
I am confused though, as to why he would refer you to a specialist if he were just a carrier.
281219 tn?1219114914
OMG Kelly...will be saying lots of prayers. It sounds like from the posts all will be fine, but I'm really sorry you have to go thru this stress. When my 7yr old was born he ended up being VERY delayed (80-90% behind at one year) and we were told while the neurologist ran tests that we best be prepared for a fatal illness. I locked myself in a dark closet and cried and cried and cried. It was hell waiting 8 darned weeks for some of those tests to come back, but I learned my life saying, "It is what it is" because I realized he was the same child I was hugging then as he was the day before and I couldn't control the outcome of the tests so I absolutely could not worry. Anyways, he's fine...well the spaz has ADHD and drives me nuts (:0)) but I love him to pieces...he's alive and didn't have any fatal illnesses. Gosh darned doctor for telling me he might. And of course I googled everything I could find. STUPID. You have a great attitude w/ this and I just know it will all be okay. But I've been there and know you will be worrying anyways despite it all. I'll be thinking and saying prayers for you.

1060179 tn?1285808658
Hope that everything works out and you get the results sooon... Take care... Thinking of you and your fam....
1686955 tn?1305575794
hiya im lily

im 24 n have CLASSIC PKU i know that both mother n farther have to b carriers my mum n dad were both carriers of the bad blood cell 1 each n thats how iv got pku unfortunatly i happen to have the worsed type of pku :(

if mother is tested n came bak negitive or farther tested n came bak negitive then ur baby is just a carrier of the bad blood cell but wen ur child grows up n has a girl/boy friend n there a carrier too then there baby will deffo have pku too
if u wish to ask anything about pku just ask away

Popular Resources
From skin changes to weight loss to unusual bleeding, here are 15 cancer warning signs that women tend to ignore.
Here’s what you need to know about the transition into menopause – and life after the change takes place.
It’s more than just the “baby blues.“ Learn to recognize the signs of postpartum depression – and how to treat it.
Forget the fountain of youth – try flossing instead! Here are 11 surprising ways to live longer.
From STD tests to mammograms, find out which screening tests you need - and when to get them.
Find out if PRP therapy right for you.