An alternative would then be to diagnose the condition in embryos before the pregnancy is established. Only the unaffected embryos would then be transferred to the uterus. This technique is referred to as Preimplantation Genetic Diagnosis (PGD).

Preimplantation Genetic Diagnosis (PGD) is, presently, a valid alternative for families at a high risk for producing offspring with genetic disorders and to those who wish to avoid elective pregnancy termination or to prevent the birth of an affected child following prenatal diagnosis. PGD allows genetic analysis to be performed on early embryos prior to implantation and pregnancy.

This provides couples at risk the opportunity to know that any pregnancy they achieve should be unaffected and obviates the need for screening during a pregnancy and hence prevent the physical and psychological trauma, and ethical-moral problems associated with possible termination.

Technical advances in molecular genetics now enable physicians and scientists to be able to diagnose some inherited genetic or chromosomal disorders from a single cell of an early embryo. The information gained by PGD is used to select for replacement in the uterus only those embryos considered unlikely to be affected by the specific genetic disorder for which testing is performed.

Couples who have PGD will undergo an in vitro fertilization (IVF) cycle for the purpose of creating embryos from the woman's eggs and man's sperm which will have genetic testing prior to replacement into the woman's uterus. The genetic material of the embryos (which is derived from both parents) is not altered in any way during a PGD cycle, and early embryological development is similar to natural conception, except that it occurs in the laboratory.

Embryos that show normal development are biopsied with micromanipulation techniques to obtain sufficient cells (blastomeres) for analysis. The cells removed from each individual embryo are analyzed by genetic testing using PCR-based DNA amplification. Those embryos considered to be unaffected on the basis of this testing will then be available to be transferred into the woman's uterus.
The intrinsic difficulties of this diagnostic approach (single cell DNA analysis, response time of 24 hours, the possibility of Allele Drop-Out - ADO), require the use of extremely sensitive and automated techniques that provide unambiguous and reliable results. In performing of PGD cases, “Genoma” Laboratory uses the most modern and technologically advanced instruments presently available and employs sophisticated and innovative analytical procedures. Avant-garde technologies and robotic solutions applied to the entire analytic process contribute to raise the quality of the analysis, guaranteeing maximum reliability of the results.  

These characteristics have enabled “Genoma” to become one of the most highly qualified European laboratory in the field of preimplantation genetic diagnosis, a reference center for various national and international IVF centers.

To date, “Genoma” Laboratory has performed over 120 PGD cases, collaborating intensely with prestigious international institutes.
Scientific activity of the center results in the publication of different manuscript in prestigious specialized journals as well as in oral communications in different meeting.