Pre-implantation Genetic Diagnosis (PGD) – the process of removing cells from an embryo for genetic testing to select the best, most genetically normal embryo for transfer to the uterus. In most cases, PGD testing looks for a single, specific genetic abnormality. PGD is most often utilized when a genetic abnormality has been identified within an individual, couple, family history, or previous pregnancy. Pre-implantation Genetic Screening (PGS) looks at the DNA of the embryo to screen for numeric chromosome abnormalities (aneuploidy) and translocations (chromosomal rearrangements).
This chart illustrates the advantage of using PGS in combination with IVF and its effect on success (Data not specific to NEOFC; image courtesy of Genesis Genetics).
Genetic mutations have been identified for many diseases. PGD and PGS techniques can be utilized to identify most genetic mutations in embryos produced in IVF. There are thousands of genetic conditions that can be identified using these techniques. Common genetic diseases with identifiable mutations include:
- Cystic Fibrosis
- Muscular Dystrophy
- Huntington’s Disease
- Hemophilia A
- Sickle Cell Anemia
- Tay-Sachs Disease
- Down Syndrome
This is just a very short list of the thousands of genetic abnormalities that can be identified using these techniques.
Pre-implantation Diagnosis & Genetic Screening Technology improves our ability to select an embryo that will result in a successful pregnancy and a healthy baby. These techniques are probably the most recent technological advancements in the field of Assisted Reproductive Technologies which will allow patients to benefit from higher success rates now and in the future.