Carrier of F1052V and husband negative for 90% of mutations

Question

I am 17 weeks pregnant. During the 13th week of pregnancy I and my husband were tested for the 90% of CF mutations at Horemion Lab. Today I was informed that I carry the F1052V mutation, whereas my husband tested negative for the 90% of CF mutations. Do you thing that we should check the other 5% of mutations in my husband, or are we OK?

Answer

Dear friend,
Since one of the parents is confirmed to be a carrier of a CF mutation, the other one must be checked for the largest possible number of mutations, if that is permitted by the stage of gestation. The aim is to have a prenatal diagnosis, and if the fetus has CF to discuss about the possibility of terminating the pregnancy.
Yours friendly,
Dr. Stavros Doudounakis

20.05.2014

20.05.14
There is detailed literature on this question (Castellani et al. in the Journal of Cystic Fibrosis 2010, 9:165-178: “Benchmarks for Cystic Fibrosis carrier screening: A European consensus document.”), let me cite a few important passages:
..."when test-sensitivity is 70%, the risk of a one positive/ one negative couple having a child with CF will be around 1/400. If the sensitivity is increased to 90%, the risk will be around 1/1200. It is possible to reduce the residual risk of a test-negative partner by increasing the detection rate. 95% sensitivity would lower the couple's risk of having a CF child to 1/2300 if the partner tests negative..." which..."approaches the a-priori risk of couples who have not had screening."..."such strategy (to screen the negative partner with a more sensitive CFTR mutation panel) should optimally be applicable pre-conceptionally which would provide more time for such a potential time demanding analysis. If the above described scenario would be faced post-conceptionally, the couple should be referred to a specialized genetics centre which can assure timely molecular genetic testing and proper counselling. ....at this stage of knowledge, scanning and/or sequencing of the complete CFTR gene is not advised in a CF carrier screening programme. "
D. d'Alquen