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Heterozygous fetus of 14 weeks
- Question
- After a trophoblast examination the results were negative for Down syndrome, but the fetus is heterozygous for CF. Will the baby always remain a carrier? Is there a chance for the baby to have CF? Its sister is 20 months old and normal. An amniocentesis was performed and a molecular karyotype was checked.
- Answer
- Dear friend,
The cystic fibrosis (CF) gene is a big gene, with over 2000 mutations. You do not mention the percentage of the CF mutations, or the specific CF mutations, that was checked for during the trophoblast test. I would also like to know the reason why an amniocentesis was performed for your first pregnancy.
If a person is a carrier, then he will remain a carrier for the rest of his life. I need to know, in order to answer your questions, the percentage of CF mutations the fetus was checked for. The higher the percentage of checked mutations, the less the chance for the fetus to have CF.
Yours friendly,
Dr. Stavros Doudounakis
- 29.05.2017
