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Carrier screening results
- Question
- I am currently pregnant, and in a blood test screening for 99.8% of CFTR gene mutations, the results state:
Summary of Results
No pathogenic or potentially pathogenic variants were detected in the CFTR gene.
No deletions/duplications were detected.
PolyT and TG regions (intron 9): 7T/5T, TG12/TG11.
The genotype for the -12T variant in intron 9 is 7T/5T, and for the -34TG variant, it is TG12/TG11.
Questions:
Based on these results, is there a possibility that the child will have cystic fibrosis at birth?
Should the father also be tested? - Answer
- Based on the results you have, you are not considered a carrier of a pathogenic cystic fibrosis variant.
There is no need for your partner to be tested.
Best regards,
M. Poulou - 19.01.2026
