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Amniocentesis
- Question
- I am a carrier of the CF mutation N1303K, and more specifically of the heterozygote mutation N1303K (c.39C9, exon 21, Genctype IVS8 polyT:7T/9T). I have been checked for 46 common mutations (greek panel). I am 13 weeks pregnant. My husband will be checked, but we will have the results in one month. In case my husband is a carrier will the amniocentesis show for a 100% if the fetus has CF?
- Answer
- In case your husband is a carrier of a CF mutation, by the amniocentesis it will be determined how many and exactly which mutations the fetus will carry from you and your husband. If it carries only one, it will simply be a carrier of a CF mutation. If it carries two, it will suffer from the disease.
Yours friendly,
Dr. Stavros Doudounakis
- 06.04.2015
