New pre-screening for genetic disorders in embryos

Good news for families struggling with genetic disorders and infertility. A new kind of preimplantation genetic screening is being developed and has been tested successfully. This one is called a Short Comparative Genomic Hybridisation (short-CGH).

Its predecessor, CGH, is used in only a few clinics around the world. It is a very intense, comprehensive cytogenic analysis of all chromosomes to check for blips in whole or parts of chromosomes. The process is time intensive requires around 72 hours to yield result. Because of this cryopreservation is necessary. But the resulting 40-70% implantation rate is extraordinary and worth the investment of time and money.

In Mariona Rius doctoral these she presented an expedited way to test the cytogenic material with fresh eggs and implant them immediately. She is a member of the research team from the Universitate Autonoma de Barcelona (UAB) specializing in Cell Biology and Medical Genetics.

The short-CGH method allows a full karyotype study of the cell with a shorter hybridization period, about 12-72 hours). They can detect aberrations in number os chromosomes as wells as structure of the whole and parts. The embryos can be implanted in the same cycle eliminating the need for cryopreservation.

The technique has been tested. The implantation rate reached up to 60%. Very exciting, a woman whose partner had two chromosomal translocations was able to have her embryos screened for a viable one without the genetic mutations, and after testing 16 embryos, found a healthy one and she is now pregnant.

Source: UAB, ScienceDaily