Embarazo y parto normal en una pareja portadora de fibrosis quística con FIV/ICSI y diagnóstico genético preimplantacional. A propósito de un caso

Abstract

Cystic fibrosis -a hereditary disease with fatal outcome very common in our environment- is caused by the mutation of the CFTR gene on chromosome 7. Apart from being accompanied by multiple signs in some cases it also implies fertility decrease in both members of the couple. We report a case of a couple who consults for infertility, both partners being diagnosed as carriers of mutations of the CFTR gene; besides the woman presents a history of unilateral ooforectomy by cist adenoma ovary.FIC/ICSI is performed but embryos cannot be transferred in this cycle because the patient needs an emergency laparoscopy after puncture due to intra-abdominal bleeding. Embryos are deep-frozen to be transferred at next cycle; pre-transfer genetic diagnosis (PGD) results in 50% embryos suffering from cystic fibrosis and 50% as disease carriers. Transferred embryos give birth to a healthy girl, carrying the mutation tF 508 of cystic fibrosis.The case demonstrates the usefulness of the PGD as an essential tool not only to obtain pregnancy but also to ensure the birth of healthy children.