I'm a carrier for cystic fibrosis

[Velvetcu]

MY cousin had a DS with CF 6 yrs ago so I was tested to see if I am a carrier which I am. I haven't really thought too much about it since then, it's a good reference point when teaching it in Biology but that's about it.

DH was never tested - not because he would rather not know but because he is too lazy to go to the hospital and get a blood/cheek swab test!

I am now 25 weeks pg and it has come to the time of year at school where we teach genetic disorders and so it has started me panicking. Would there be signs of CF on any scans? Can/should I have my baby tested before she is born? If so what does this involve? I have just read that I should have been offered an antenatal test in early pregnancy but was not. Please help!

[PirateDinosaur]

It wouldn't show up on any scans. It could be checked for via amniocentesis, but that carries a risk of miscarriage and I can't see them doing an amnio unless your DH actually pulls his finger out and gets tested to see whether he's a carrier. If he isn't then you have nothing to worry about; if he is then you have to weigh up risks of various options. Would you terminate because of CF? If not then you might decide that given the risks of amnio you'd rather wait for a test after your baby arrives or have a late amnio around 34-36 weeks where the risk is of slightly early labour rather than of miscarriage/stillbirth.

[LilyBolero]

You might well get some markers on the scans - bright spots in the bowel would be one that could warrant further investigation. That's not to say that a clear scan means no chance of CF though.

Get your dh to be tested, if he's not a carrier (which he probably isn't), then the baby will be fine. If he is, there's still a 75% chance the baby is fine.

Hope everything is ok.