Diagnostics of monogenic and chromosome defects of oocytes and embryo are carried out during the procedure of preimplantational genetic diagnostics (PGD) as well as defining the sex of an embryo for prevention of hereditary diseases.
PGD is developed for women who have high risk of getting children with hereditary pathology as alternative method of prenatal diagnostics. Main advantage of preimplantational genetic diagnostics is the possibility of refusal from invasive interventions on fetal egg and interruption of a pregnancy in case of pathology. Tests can be conducted on polar bodies of oocytes and/or on embryo blastomere nuclei.
Recommendations for PGD.
Risk of birth of children with mutation of any isolated gene or with chromosome anomaly detected by medical and genetic examination.
Materials and methods of examination
Diagnostics are carried out by using methods of fluorescent hybridization in situ or polymerase chain reaction.