Topics

Diagnostics during pregnancy, and termination
Is there an option of doing diagnostics as early as possible during pregnancy so that a regular termination would be possible, or would/will it always be a late termination? In other words, does one always have to have a stillbirth, or is there any method that will provide a result early enough to ...
02.08.2012
Getting pregnant with CF
Dear expert team, I would be interested to learn about the getting pregnant with CF. I am 24 years old and pretty stable. My FEV1 is at 70-89%, and I am 165cm tall and weigh 48kg. I have thyroid hypofunction (2.89). What about fertility? For a “normal woman,” there is a 25% chance of ...
02.08.2012
9 years after lung transplantation: I wish to have a child!
Hello, I am 35 years old and had a lung transplantation due to CF in 2003. Now me and my partner we wish to have a child. I do not have any problems since the transplantation and not a single rejection and I am doing very, very well. My medication is: tacrolimus, MMF, cortisone 5 mg, pantoprazole ...
30.07.2012
Hyperechogenic bowel
I am 29 years old and pregnant with my 3rd child. Due to a known thrombophilia issue I started an injection therapy. After a check I had the following results: CMV IgG 236 positive CMV IgM 0.87 borderline CMV IgG Avidity 0.83 indication of prior infection In week 13-14 I had a hemorrhage and my ...
23.07.2012
Preimplantation check
A friend of mine is a carrier of the F1052V mutation and her husband is a carrier of the 621+3A>G mutation. Do they have to do a preimplantation check? They will proceed with an IVF due to azoospermia.
30.07.2012
Cystic fibrosis-prenatal diagnostics
Dear team, I would like to know whether I can test my unborn child for cystic fibrosis during pregnancy and if so, with which test? Thank you for your answer.
19.07.2012
CFTR mutation and CBAVD
My 18 year old son has been treated for a thyroid carcinoma. Before the treatment he had a sperm analysis. The conslusion was a diagnosis of azoospermia related to a congenital bilateral absence of vas deferens. So he underwent an analysis of CFTR gene mutation. A mild CFTR mutation was identified. ...
02.07.2012
Infertility in females
Are there percentages known about how common decreased fertility is in women with a mild form of CF?
05.06.2012
Menopause
Dear doctor, I’m a woman 40 years of age and I have cystic fibrosis. I used to have my menses every 28 days, but recently they came less often and then now I do have my menses just after 2 weeks again. Is this the beginning of menopause? Do patients with CF have an earlier menopause? ...
29.05.2012
Pending diagnosis
Hello, Following two semen analyzes showing azoospermia, I performed a testicular ultrasound which revealed bilateral absence of the vas deferens and a genetic analysis of the CFTR gene. I received the first "transient" results indicating that I carry the F508del mutation. My blood sample has ...
22.05.2012
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