interpretation of cystic fibrosis result

Question

Hello, can you please help me to interpret a result?
Methodology: DNA was extracted from fetal cells from the culture. DNA molecular analysis for cystic fibrosis detection was performed using the kit "Genetic Cystic Fibrosis Assay 'ver March 19, 12, which detects 38 mutations plus genotype Tn. Screening of 39 mutations reaches a detection rate of approximately 80% of cystic fibrosis. Analysis was performed by direct amplification of genomic DNA by PCR followed by reverse-hybridization method. Result: Negative for 38 of the most common cystic fibrosis mutations. Genotype IVS8 poly T: 7T/7T
Thank you very much!
A.

Answer

Hello,
According your story it appears that the fetus did not show any CFTR mutation and has a normal genotype 7T/7T for intron 8.
That means your baby is healthy, without cystic fibrosis. Supposing that you or your husband have each one cystic fibrosis mutation, than there is the possibility that your baby would be carrier or ill, having yours/and/or your husband's mutation. Also there is the possibility that your baby is healthy. If you would be both carriers, (not knowing the mutations?), and the amniocentesis was done with the suspicion of CF, you should know that thay are other undetectable mutations, not detected by this screening test. You might have this test only for screening, maybe you can tell us more!
Regards
Prof.Pop and Dr Liviu Tamas

29.07.2014