Someone tell me about Cystic Fibrosis please..scan today.

[mumfor1standfinaltime]

Hi.

My sister had a 20 week scan at hospital and she told me that the baby had something showing up on it's bladder.
Doctor said it was swollen or something. She said she wasn't really taking all info in. She was told it was either Cystic Fibrosis or a 'bleed'. Can anyone else shed light on this, good or bad?

She has had a blood test (so has her partner) to see if they carry the gene).

Thanks X

bump

I will look elsewhere for info then!

My son Has CF and i haven't come across it having anything to do with the bladder yet but he wasn't diagnosed untill he was 2 and during pregnancy all scans were totally normal.

I'm am wishing for the best sorry i can't be of more help, IF the baby does have cf there is alot dr's can do these days to make a cf patient lead a reasonably normal life if that helps.

www.arc-uk.org might be a good place to start , aswell as getting a follow up appointment with the hospital

i did not think CF could be detected pre birth, but i might well be wrong

I got told at a recent appointment with a geneticist that it could only be detected pre birth by an invasive blood test of the baby whilst it was in the womb.

There are very many genetic mutations that can cause cystic fibrosis and the blood test only looks for some of them.

The definitive test for cystic fibrosis remains a sweat test when the electrolytes in sweat are analysed. Clearly this can only be done once the baby is born.

If you already have one child with cf then your child can have a blood test to look to see which mutations they carry, though as above the test will not pick up every mutation. In theory you could test the parents blood if there wasn't already an affected child but again this is no guarantee that the mutation will be detected even if it is present. I've never heard of this happening antenatally in parents who did not already have a family history of CF. If the mutations are detected then blood from a subseqyuent fetus can be tested to see if they match the mutations that the affected child and carrier parents have.

In addition to this I've never heard of CF being picked up antenatally because of bladder problems. I wonder if, in your sister'a upset, she may have misheard?

ok..but not by scan?

i am wondering if they said fibroid, and fibrosis.

No not by scan.

I asked the same thing for if we decide to ahve anymore i also asked it whilst blubbing after ds's diagnosis in a 'why wasn't it picked up in a scan?' kind of howl.

Hi, thanks for the friendly replies. Sorry If I seemed a little off in my last message, have been thinking about my Sister all day and was worrying for her.

She has 2 children already but with a different partner, her other 2 children are healthy. She was told by the doctor that they both had to be a carrier for baby to get cf.
She said doctor was foreign and she found it hard to follow what he was saying, so maybe she misheard some of it.
My Mum has worked with special needs children and she was straight on to the phone to her in tears asking for more info as she said doctor was very vague and told her there was ' no need to know any more info about cf yet'. I think she was just so upset that all information told to her just didn't sink in.

Ladidadi just about covered it all, dd2 was diagnosed with CF 3 weeks ago at 1 week old, again had a week where doc's said don't need to know anymore until CF was confirmed...not great but with hindsight when it was confirmed it was the specialist team with up to date knowledge that gave us the info, which was probably better...

Hope all goes well for your sister fingers crossed the LO is allclear

Thanks, I will do an update later to let you know. Everyone has been so thoughtful.
She has to wait for results of test and has an appointment to go back to hospital.

She is rhesus negative do you think this could have anything to do with the 'bleed' they are talking about?

Going to phone Mum later to see if she knows any more about the situation.

Thanks for info, feeling bit better about things.

hiya, the daughter of a friend of mine went through something similar, when she had her scan a shadow was detected on her bowel and the consultant said that this could be an indicator of cf. Her and her partner had genetic testing and they weren't carriers so cf was ruled out and the consultant then said it could have been a bleed. At a scan at 28 weeks no shadow was detected and her baby was born perfectly healthy. That was about three years ago.

hth

Sounds like it could have been echogenic bowel seen on the scan. That's a bright spot within the bowel - can be caused by the baby swallowing blood or may be a sign of a blocked bowel which is a sign of CF.
As someone said, testing the blood of the mum and dad will not pick up all the mutations possible, but it picks up the mutations which cause the majority of CF. If both of the parents carry a mutation then the baby can be tested by CVS.

Thanks for the info, that helps

Could it have been the bowel? Often, the bowel of an unborn baby can show up as brighter than normal on the scan. This can be indicative of cystic fibrosis and will usually warrent further testing at birth.

It wouldn't have been the bladder.

you been on holiday shiney?

Hi OJ. Yes.. well to Pontins.. it was dire.. .. don't go anyone!!

How are you?

you see i missed you. i am coping...just.
i can't do links but there is a thread or two in health that will update you on my DH
Fab news about peter getting his op

Hi again, it was the bowel and not the bladder I got it confused. Results for blood test are on Monday.