Testing of Cystic Fibrosis

The only way to recognize the carriers of cystic fibrosis is by molecular genetic testing that detects mutations in the CFTR gene in the general population. Screening for cystic fibrosis to identify carriers of the disease is performed:

  • during family planning.
  • when there is family history,
  • when there is echogenic bowel on ultrasound,
  • in cases of infertility.

In case of family planning, if both parents are carriers, information about the fetus is given by methods of preimplantation diagnosis and prenatal screening.

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