Preimplantation genetic diagnosis for cystic fibrosis: a case report.

Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases.

[Doppler and reduction of perinatal mortality].

The authors think that perinatal mortality can be substantially reduced by accurate evaluation of chronic fetal distress by means of ultrasonic biometry routinely applied to pregnant women at each consultation and a Doppler examination carried out whenever retardation is detected or in any abnormal situations which could lead to such retardation. The authors present their experience in 353 women followed-up in their Service.