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Detection of nucleotide variant c.650A>G
Good evening, during preconception testing for in vitro fertilization procedure, I was found to be a carrier of the nucleotide variant c.650A>G p.(Glu217Gly) of the CFTR gene (NM_000492.3) in heterozygosity. No copy number variant (CNV) was detected in the CFTR gene (RefSeq NM_000492.3) in the sample under analysis. The genotype for the -12T variant in intron 8 is T7/T7 and for the -34TG variant is TG12/TG11, and it is a polymorphism without clinical significance. My husband will also undergo a full molecular test, but in the meantime I would like to ask if there will be a problem in a possible pregnancy if he is also found positive for the same or another mutation. Thank you very much
25.04.2025
Cystic Fibrosis
Good evening, I am in the 15th week of pregnancy and I a test for CF. The results showed that the nucleotide change c.330C>A (p.Asp110Glu) of the CFTR gene was detected in a heterozygous state. In the ClinVar database, it is characterized as unknown clinical significance, but also as pathogenic in terms of its association with the manifestation of Cystic Fibrosis and disorders related to the CFTR gene. In the CFTR-France database, it is characterized as a pathogenic change, while in the CFTR2 database it is described as a change with varying effects, some carriers of which in combination with a pathogenic mutation show symptoms of Cystic Fibrosis, while others do not. These were reported in my results. Now we are expecting my husband's. I would like you to tell me if this mutation that was detected in me gives a greater chance that, in the event that the husband also has a mutation, the child will be either a carrier or an affected person?
25.04.2025
ΔF508 heterozygous and heterozygous state the nucleotide substitution c.2991G>C (p.Leu997Phe / L997F) in exon 19 of the CFTR gene.
Good evening! I am 13 weeks pregnant. I underwent molecular testing for 99% of cystic fibrosis mutations, and a heterozygous nucleotide substitution c.2991G>C (p.Leu997Phe / L997F) was detected in exon 19 of the CFTR gene. Then, my husband was also tested, and he was found to be heterozygous for the mutation c.1521_1523delCTT (p.Phe508del / ΔF508) in the CFTR gene. Questions: What are the chances that our baby will have cystic fibrosis? Should I undergo amniocentesis?
25.04.2025
Mutations c.358G>A and c.2687C>T
Good evening, I have the mutation c.358G>A (exon4) of the cystic fibrosis gene (CFTR) with genotype A120T/NI and my partner has the c.2687C>T.p.Thr896Ile, exon17 T896I of the cystic fibrosis gene LRG_663t1. We were told by the hospital where we had the test that we do not need to do tests in case of pregnancy because they are mild mutations and their combination probably does not create a problem. What do you suggest? Thank you very much.
25.04.2025
CF mutation combination A120T and E826K
I am 14 weeks pregnant, I am heterozygous for c.358G>A exon 4 (A120T) of varying clinical significance and my husband is heterozygous for C2476G>A exon 13 (E826K) of unknown clinical significance. Will the fetus have CF? Or will it simply be a carrier? Is trophoblast screening, amniocentesis or NIPT required? Thank you
25.04.2025
Mutation ΔF508 and c.650A>G
Good evening. I am 18 weeks pregnant and have tested positive for the Δf508 mutation for cystic fibrosis. My husband tested positive for the c.650A>G mutation today We immediately informed my gynecologist who suggested that we do an amniocentesis. What are the chances that the baby will be born with cystic fibrosis due to the mutations we carry? Do you think amniocentesis is necessary? I would like to avoid it due to the possibility of miscarriage later. Thank you in advance for your answer.
25.04.2025
Combination of CF gene mutations F508del & Gly404Val
Good evening. We are in the 14th week of pregnancy. The wife has ΔF508 and I have Gly404Val. We know if the combination of the two mutations is pathological. If so, do you estimate whether the symptoms of CF will be severe?
17.04.2025
c.3154T>G (p.Phe1052Val)
Good evening, I am 24 weeks pregnant and after a cystic fibrosis test I was positive for c.3154T>G, my husband did it too and we are waiting for the results. I wanted to ask if it is one of the dangerous mutations or one of the milder ones?
09.03.2025
parents carriers of Phe508del and D924N
Hello. I am a cystic fibrosis carrier in FD508 and I am pregnant. My husband was heterozygously found to have the c2770G>a variant. It is characterized by the database as having varying clinical significance. I spoke with a geneticist biologist and they told me that the husband's mutation is rare, very mild and non-pathogenic, so if our baby inherits the 2 mutations it will not be in a severe form of K.I . What is your opinion?
09.03.2025
Combination of ΔF508 and E822X mutations
Good evening. I am pregnant and after amniocentesis it was found that the fetus is a compound heterozygote for the mutations ΔF508 and c.2464G>T (E822X). I understand that these are mutations of a severe form of CF. However, could you describe to me a clinical picture of this combination? Thanks in advance
09.03.2025
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