Topics

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
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
combination of DF508/R750Q
I am 21 weeks pregnant in my first child and I was found to carry the DF508 mutation in heterozygote status. My husband was found to carry the R750Q mutation, also in heterozygote status. I would like to ask: 1. What are the chances of the fetus inheriting both genes? 2. What mild symptoms does this combination result in? 3. Is there a chance of the symptoms being severe? 4. What is the chance of sterility?
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 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
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
Should we do a sweat test?
My daughter is 19 months old, weighs 8.5 kg and is 76 cm tall. As you understand, we have nutrition issues. My eldest daughter is 5.5 years od and is pretty thin (15.5 kg). Our paediatrician has done some initial tests for the low weight issue and the results were good. She told us that the child need to have a sweat test because she has a history of episodes of bronchiolitis (stool and sweat are normal). I am very stressed. Do you think we should proceed with the sweat test?
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
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 would like to ask if our child will suffer from CF, if it carries both mutations, or if it will have an atypical CF (what does this mean?), or if it will be healthy.
11.05.2018
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