Topics

nutrition
Dear team, I have a question. I would like to nourish my daughter as healthy as possible. She doesn't like raw food but she eats vegetables not fully cooked. What does better preserve the vitamins: cooking only one portion of vegetables and store the raw vegetables until cooked or cooking all vegetables and keep them cool and rewarm the cooked vegetables the other day? Or is there no difference? (we buy fresh things 2-3 times a week)
25.04.2025
Vitamin K1
Dear team, in former times I got Konakion, this is Vitamin K1. The I was switched to Rainfarn Vitamin combination ADEK. I discovered, that the ADEK vitamins contain Vitamin K2. I heard, that Vitamin K1 is helpful in case of haemotpysis. What is the difference between the two vitamin K preparations?
25.04.2025
Carrier of the CFTR gene, genotype IVSR8-POLYT 7T/7T.
Hello, I am in the 8th week of pregnancy and have undergone cystic fibrosis testing for 75% of mutations. The result was that none of the targeted genetic variants were detected in my CFTR genotype, which was IVS8:7T/7T. However, my midwife called me and told me that, according to the test, I am considered a carrier of this particular gene and that my husband should also be tested for 99% of mutations. My question is: For the baby to be at risk, does my husband need to carry any mutation, or only this specific one? I am very worried because, besides this being an IVF pregnancy, it is also my first pregnancy. I would greatly appreciate your answer.
25.04.2025
Genotype 5T/7T at the IVS8 polyT site of the CFTR gene
I am currently 23 weeks pregnant. After two findings (echogenic bowel and echogenic focus in the left ventricle) during my second-trimester ultrasound, I proceeded with an NIPT test and a molecular test for Cystic Fibrosis (for 34 mutations, whereas before pregnancy, I had only been tested for the ΔF508 mutation). The Cystic Fibrosis test results state: "The tested sample is negative for the above CFTR gene mutations and carries the 5T/7T genotype at the IVS8 polyT site of the CFTR gene." Additionally, the report includes the following note: "It is noted that the presence of the 5T polymorphism (IVS8-5T) is associated with Congenital Bilateral Aplasia of the Vas Deferens (CBAVD) in males." I should mention that my partner has not been tested for Cystic Fibrosis, and we are expecting a baby girl. Could you explain how these results could affect a future pregnancy if the baby is a boy? Thank you in advance!
25.04.2025
c.2991G>C (L997F)
I am pregnant, and during prenatal screening for 99% of mutations, it was found that I am heterozygous for the nucleotide substitution c.2991G>C (p.Leu997Phe/L997F) in exon 17a (legacy name). We were advised that my husband should also be tested for 99% of mutations. Am I considered a CF (Cystic Fibrosis) carrier? While we are awaiting the results, if my husband also carries a mutation, how risky is it for the baby's health, and what are the potential future implications? Thank you in advance!
25.04.2025
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
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