Topics

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
CF mutations
The mother carries the mutation G542X in heterozygote status and the father the nucleotic change c.949G>C (p.Val317Leu) of the CFTR gene. The fetus, after an amniocentesis carries the G542X mutation from the mother and the p.Val317Leu mutation from the father. How severe will the CF be?
25.05.2018
CF mutations
My husband and I were checked for the largest possible percentage of CF mutations during our genetic screening. I was found to carry the C.3154T>G mutation, possibly pathogenic, and my husband the C.2620-15C>G mutation, which is labeled as of unknown clinical significance, or as a polymorphism. I ...
11.05.2018
DF5508 in heterozytoge status
While testing for Down syndrome, the DF508 mutation was found in heterozygote status. We do not know if the parents carry any CF mutations. Can the child have CF?
11.05.2018
combination of DF508/NM_0004923
My husband and I were found to be carriers of CF mutations. I have the DF508 mutation, and my husband carries the ΝΜ_0004923 mutation. What happens in this situation? What are the chances for our child to have CF? Thank you.
11.05.2018
DF508 mutation and mutation of unknown significance
I am 22 weeks pregnant in my second child. I was to be a carrier of the DF508 mutation, while my husband carries the c3118c>T (L1040f) mutation, of unknown clinical significance. We were not tested when we had our first child, and the geneticians advised us to test our firstborn, who was found to ...
04.05.2018
c81c mutation
My wife is 21 weeks pregnant. She was tested and found a carrier of the DF508 mutation. I was tested as well and I was found to carry the c81c>T mutation. My wife had an amniocentesis. The fetus was found to carry the DF508 mutation and we await the results for my mutation. What are the chances ...
09.03.2018
Nucleoitc change of unknown significance
I am 16 weeks pregnant and I was tested for 99% of CF mutations for purely preventive reasons, as there is no history of CF in my family, or in my husband’s family. The results showed the nucleotic change c.1001G>A (.Arg334Gin) in the CFTR gene in heterozygote condition and that there are not ...
09.02.2018
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