Topics

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
Genotype 7T
I am 12 weeks pregnant and have been checked for CF mutations (47 mutations). The results were negative for the most frequent mutations (46 mutations). The sample shows the genotype 7T/7T at position IVS8 polyT in the CFTR gene. Is it something I must worry about? My spouse has not been tested. ...
19.01.2018
Carrier of CF mutation
I am 34 years old at 21st gestational week. I am a carrier of r75Q after checking for 85% of CF mutations. My husband was checked for 99% of CF mutations and he was found to carry S977C (unknown clinical importance). The genetist expert advised us not to proceed to amniocentesis, since the mutation ...
19.01.2018
Cystic Fibrosis
After the genetic testing for CF mutations my wife was found to be a carrier of the c.476T>C, L159S exon 4 mutation. She is now 16 weeks pregnant. I am being tested for the 95% of CF mutations. In case I am a carrier of a CF mutation, what chances does the fetus have to suffer from CF and what kind ...
07.01.2018
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