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CBAVD G551D Mutation
During a diagnostic work-up for azoospermia I (32 years old) was diagnosed with a heterozygous G551D mutation. If this is indeed CBAVD (congenital bilateral absence of the vas deferens), shouldn’t there be a further (undetected) mutation? I have been having slight digestive problems for a year ...
17.01.2013
Follow-up question on PID and CF
In Dr. Christina Smaczny's answer to the question "Diagnostics during pregancy, and termination" [http://ecorn-cf.eu/index.php?id=65&tx_expertadvice_pi1[showitem]=2028&tx_expertadvice_pi1[search]=PID], the following passage can be found: "Due to the methodical effort involved, this procedure ...
14.12.2012
Pregnant with CF, how is the child born
Dear expert team, I am pregnant and have CF, and would now like to know how the birth of the child will happen. Will it be born in the usual way or by cesarian section? What would be the gentler way for the mother? Many thanks in advance and kind regards.
20.11.2012
Prenatal diagnosis
Hello, I am the mother of an 8.5 month old baby with cystic fibrosis. My husband and I would like to have other children, but we would like to know more about prenatal screening technique. We heard about a test developed at the Necker Hospital, which involves analyzing the mother's blood. Is ...
15.11.2012
Fertility
Hello, My son (27 months) carries DF508 and G542X mutations. He is doing well, we make physiotherapy 2 times a day, take vitamins, CREON, salts, etc ... Is there the possibility that his vas deferens are well developed? Are there any ongoing studies about fertility in CF patients? Thank you for ...
24.08.2012
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
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