Topics

Wish to have children
Dear team, my partner and I, we want to have a child. Until now, it did not work and now an azoospermia came out in my partner. The urologist said, we could have a genetic investigation done, if he wanted. My husband (31) has no symptoms. He hasn't any problems with digestion, nor with the lungs ...
20.07.2018
c.274-6T>C and ΔF508
I want to get pregnant and I was tested for CF. I was found to carry the C274-6T>C mutation and the DF508 mutation, one from my father and the other from my mother. It was suggested that my husband must be tested due to the DF508 mutation. For the other mutation I was told that the data are ...
20.07.2018
Genotype 7T/9T & 10TG/11TG
I am 14 weeks pregnant and I was tested for 99.6% of the CF mutations. No pathological mutation was detected, but the answer wrote "Genotype 7T/9T & 10TG/11TG". Is this something I should worry about? Thank you!
20.07.2018
Cystic Fibrosis Related Disorders
I am 21 weeks pregnant. I was found to carry the DF508 CF mutation and my husband the c.220C>T (p.R74W). Does this combination cause mild or severe CF symptoms? Do you recommend an amniocentesis? We have two conflicting opinions. Thank you.
22.06.2018
Combination of DF508/R1162L
After testing I was found to carry the c.3485G>(R1162L) mutation and my husband the DF508 mutation, both in heterozygote. Does the combination of these two mutations cause CF, or any other pathology? Thank you in advance.
22.06.2018
distended gallbladder and hyperechogenic bowel
Our second baby (I am 20 weeks pregnant) was diagnosed with distended gallbladder and hyperechogenic bowel. Are these two connected, or not? Could you give us some information about the first, which is somewhat rare? Is amniocentesis advisable?
22.06.2018
Genotype T5/T7 and TG11/TG12
I am pregnant and my spouse was found to carry the genotype 5T/7T and TG11/TG12 in the T and TG polymorphic CFTR regions (heterozygote for T5-TG12 allilomorph. I ams going to get tested as well. Should I be concernded? What are the chances? Thank you.
22.06.2018
cf prospects
I am pregnant and carry the c. 2758G>T(p.Va1902Leu/V920L mutation of the CFTR gene, while my husband carries in heterozygote state the c.902A>GCp.Tyr301Cys/Y301c mutation in exon 7. What are the chances of the baby having CF? Thank you.
25.05.2018
DF508 in heterozygote state
After being tested for infertility for 75% (very small number of sperm cells) the DF508 mutation was found in heterozygote state. My wife will get tested for 99%. Must I get further testing? Apart for the infertility issue, are there any issues that I should know about?
25.05.2018
CF
After an amniocentesis the CF mutations DF508 was found in the fetus. My wife does not carry the DF508 and was checked for 89% of CF mutations. I was tested and we await the results. Even if I am a carrier, what are the chances of the baby being a carrier or having CF? Thank you.
25.05.2018
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