Preimplantation genetic diagnostics of monogenic-based diseases: possibilities, pitfalls and first accomplishments in the Czech Republic
Abstract
Preimplantation genetic diagnosis (PGD) has become the standard part of reproductive genetics. PGD enables transfer of mutation free embryos and precedes prenatal diagnosis and termination of affected pregnancies.
The introduction of advanced techniques of molecular genetics into clinical practice has broadened spectrum of cases solvable by PGD: in addition to chromosomal aberrations diagnosed by fluorescent in situ hybridization (FISH), precise diagnosis of a wide range of monogenic disorders has become available as well. Authors are reporting on the first successful PGD for cystic fibrosis carried out at their centre in 2007.
Highly polymorphic intragenic and extragenic short tandem repeat markers were used for preimplantation genetic haplotype analysis of CFTR gene in combination with direct analysis of F508del deletion by fragment analysis.