Cystic fibrosis (CF) is a genetic disease that affects multiple organs, particularly the lungs and digestive system, causing thick mucus buildup that leads to infections and blockages. It is a recessive disorder, meaning both parents must pass on the mutated CFTR gene for a child to be affected. While one in 20-25 people is a carrier of this gene, they typically show no symptoms.
Diagnosis of Cystic Fibrosis
Diagnosis usually involves a sweat test, which measures the chloride levels in sweat (abnormally high in CF patients), or genetic testing to detect mutations in the CFTR gene. Genetic testing is often recommended for couples planning to have children, especially if one or both are carriers. Testing during pregnancy can also be performed through amniocentesis or chorionic villus sampling.
Fertility and Cystic Fibrosis
Men with cystic fibrosis often experience fertility issues due to the absence of the vas deferens, resulting in azoospermia (lack of sperm in the semen). However, sperm can still be retrieved through testicular aspiration for use in assisted reproduction techniques like ICSI (Intracytoplasmic Sperm Injection).
Women with cystic fibrosis may also face challenges but can often conceive naturally with proper health management. Couples where one or both partners have CF should undergo genetic testing and may consider Preimplantation Genetic Diagnosis (PGD) during IVF to ensure that only embryos free from CF are implanted.
For those concerned about passing CF to their offspring, PGD offers the chance to have children unaffected by the disease, providing peace of mind and a healthy start for future generations.
Contact Nicosia Fertility to learn more about PGD and fertility options for individuals affected by or carriers of cystic fibrosis.
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