Predictive diagnosis of cystic fibrosis: survey results from physicians and parents of patients

Background. The preservation of reproductive health and the birth of healthy children in couples where both spouses are carriers of genetic disorders are pressing healthcare issues. Many couples planning a pregnancy are not always aware of the risks of having a child with a severe genetic disease

Aim: to analyze the awareness of prenatal prevention and predictive diagnosis of cystic fibrosis (CF) among parents of CF patients who are healthy carriers of pathogenic variants of the CFTR gene, as well as among healthcare professionals (doctors from various specialties dealing with CF).

Methods. An online survey was conducted with 108 parents of CF patients and 84 physicians.

Results. Both parents of CF patients and healthcare professionals considered that the physician who should first explain the nature of the genetic disease to parents is a geneticist (42.9% and 42.8%, respectively). This responsibility can also be assigned to the attending physician, according to 32.1% of healthcare professionals and 33.9% of parents. There is no consensus on the specialty of the physician who should consult the patient regarding prenatal diagnosis. 39.2% of respondents believed this should be a geneticist in a medical genetic center (MGC), 19.0% – an obstetrician-gynecologist, 17.8% – the child’s attending physician from the CF/pulmonology center, 7.1% – a district pediatrician, and 9.5% – a reproductive specialist. The birth of a sick child significantly impacted the desire to have more children: 35 parents (32.3%) expressed their decision to abstain from further childbearing. Parents informed all family members about the disease risks in 78.7% of cases, only their spouse in 13.9%, and no one in 7.4% of respondents. A total of 86.1% of parents believed genetic technologies are necessary for the birth of a healthy child, but only 42.5% were willing to use prenatal diagnosis themselves. Awareness of prenatal diagnosis options was present in 79.6% of respondents, with 41.6% knowing about three types of diagnosis, including genetic screening at the pregnancy planning stage, embryo screening, and genetic diagnosis during pregnancy. Most surveyed parents received this information from the press/internet (29.6%) or from a physician at the MGC (28.7%).

Conclusion. The survey revealed a low level of awareness among both parents and healthcare professionals regarding prenatal diagnosis of CF.

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