Cystic Fibrosis

Question

My husband was found to be heterozygous for the f1052v variant located in exon 20 of the cystic fibrosis gene.
And I was found to be heterozygous for the c.1558G>A variant located in exon 11 of the cystic fibrosis gene.
I am 18 weeks pregnant. What could happen to my baby?

Answer

The F1052V (p.Phe1052Val, c.3154T>G) variant has a variety of consequences.
Some patients with this variant, in combination with another variant that causes Cystic Fibrosis (CF), have CF.
Other patients with this variant, in combination with another variant that causes CF, do not have CF.
Because of this variability, it is very important to use CLINICAL CRITERIA ONLY to determine whether a person with this variant has CF.
Because the clinical manifestations of CF can vary over a person's lifetime, people who have this variant plus a variant known to cause CF should have periodic check-ups with their doctor even if they do not currently have clinical signs or symptoms of CF.
The c.1558G>A (p.Val520Ile) variant is a variant of unknown clinical significance. There are not enough clinical data to draw firm conclusions about its action.
Due to the mildness of the F1052V variant, an individual inheriting both variants is expected to have mild symptoms of the disease with pancreatic sufficiency.
Best regards,
M. Poulou

05.03.2025