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
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
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
<<  1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10  ...  53 >  >>