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 ...
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.
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.
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. ...
Infertility in females
Are there percentages known about how common decreased fertility is in women with a mild form of CF?
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? ...
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 ...
Pregnancy and CF
I am a CF patient, 36 years old and turning 37 in April, married and already have two children (12 and 8 years old). Now it “happened” again: I am pregnant again. If I were healthy, I would be very happy, but I have CF. Last year I was in very bad health after a severe lung bleeding, but I ...
Male with cbavd, woman no abnormalities on the CFTR gene. What are the consequences?
Because we wanted to start a family, but no children came, we went to a fertility centre. Tests revealed that there was no sperm in the ejaculate. Further tests revealed absence of the vas deferens and small seminal vesicles. Genetic tests revealed an abnormality in the CFTR gene. I am 33 years ...
CF yes or no?
Dear, I am a 35-year old man. Because we had problems starting a family, I had tests done. I seem to have F508del and R117H in combination with 7T/gT. Whether I do have a vas deferens? Different answer by different urologists, from ‘not present’ to ‘one sided absence’. In any case, I do ...
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