DIAGRAMA NÚMEROS II

Prenatal diagnosis of cystic fibrosis with DNA probes

Importance of Prenatal Diagnosis in Cystic Fibrosis

Detection Process Using DNA Probes

What is Cystic Fibrosis?

Prenatal Diagnosis: What Does It Involve?

Cystic fibrosis is an inherited genetic disease that primarily affects the lungs and the digestive system. It's linked to mutations in the CFTR gene, leading to the production of a defective protein that disrupts the balance of water and salt in cells, causing the buildup of thick mucus and issues in various body systems.

Prenatal diagnosis refers to the detection of genetic diseases or abnormalities in a fetus during pregnancy. To detect cystic fibrosis, techniques like amniocentesis or chorionic villus sampling are used to obtain cells from the fetus. The genetic material of these cells is then examined using specific DNA probes designed to identify mutations in the CFTR gene.

DNA probes are DNA sequences designed to specifically bind to complementary sequences of the CFTR gene. These probes allow the identification of known mutations associated with cystic fibrosis. If these mutations are detected, it confirms the presence of the disease in the fetus.

Prenatal diagnosis provides expecting parents with early information about their unborn child's condition. This enables them to make informed decisions about the pregnancy and prepare for necessary medical care if cystic fibrosis is confirmed in the fetus.