What are the key genetic terms, and what do they mean?

TBC

Aneuploidy:

Aneuploidy is the presence of an abnormal number of chromosomes in a cell. Normally, you would have 46 chromosomes in each of your cells, however, sometimes around fertilisation there are mistakes that occur which leads to each cell having more or less than 46 chromosomes. If the resulting embryo has 44 or fewer chromosomes it won’t survive the pregnancy and will lead to a miscarriage. However, sometimes other abnormal chromosomes embryos can lead to full term pregnancy.

C4M2/Careunity:

Careunity is a new test that identifies one of the causes of recurrent miscarriage and other placental problems. Through looking at genetic “mutation” or “variation” in a specific gene carried on chromosome number 4. That is where the name C4M2 comes from. C4 stands for chromosome number 4 and M2 is the name given to the variant at a specific location of this gene on chromosome number 4.

Chromosome:

A chromosome is a long DNA molecule that has part or all of the genetic material of an organism. Normally, each cell in the human has 23 pairs of chromosomes (46 total chromosomes), half come from the mother and the other half from the father. Two of the chromosomes (X and Y chromosomes) determine your sex as either male or female when you are born.

DNA:

Our unique genetic code that carries information for our development and functioning. Euploid: This is when the embryo is genetically balanced with 46 chromosomes. Genes: These are the parts of the chromosomes that control which hereditary characteristics such as hair or eye colour a child may inherit.

Gene Markers:

A DNA sequence with a known physical location on a chromosome. Karyotype Test: A test to check that you have the usual number of chromosomes of the expected size and shape.

Linkage Analysis:

A technique used to detect the chromosomal location of disease-causing genes, allowing the trait to be investigated. Mosaic: Some embryos may have both chromosomally normal and abnormal cells or a mixture of the two-these are known as mosaic embryos.

PGT-A:

Pre-implantation Genetic Testing for aneuploidy is a genetic screening test performed on embryos during the IVF treatment cycle to check they have the right number of chromosomes and whether they have any abnormalities to better assess an embryo’s genetic health.

PGTai 2.0:

Pre-implantation Genetic Testing for aneuploidy enhanced by the use of artificial intelligence (AI). AI can increase the chances of PGT-A making IVF more successful by helping to identify only the best embryos for transfer. The PGTai 2.0 platform uses two independent methods to test embryos alongside AI to identify embryos with the correct number of chromosomes. It also provides greater levels of embryo testing to make results more personal, giving us the chance to see whether an abnormality arises from the egg or sperm, helping us to direct efforts to improve either egg or sperm quality before starting a new cycle if possible. Or help a couple decide to switch to donor eggs or donor sperm for treatment.

PGT-M:

Pre-implantation Genetic Testing for monogenic/single gene defects (PGT-M) tests the embryos created through IVF using linkage analysis to assess embryos for any defects. Unaffected embryos are then transferred.

PGT-SR:

Pre-implantation Genetic Testing for Chromosomal Structural Rearrangements involves testing the embryos created through IVF and then transferring the embryos that contain a balanced amount of chromosome material.

Culture Mediums BlastGen:

A culture medium used to culture embryos in a lab. Similar to EmbryoGen, the use of BlastGen does not involve additional tests or procedures. After your embryos have been developed for roughly three days in the EmbryoGen culture medium, we will transfer them to the BlastGen culture medium to continue their development until the blastocyst stage.

Culture:

The process by which eggs are removed from the ovaries and combined with your partner’s or donor’s sperm within an artificial medium to create a fertilised egg.

Culture Medium:

A culture medium is a liquid which has been designed to support the growth of cells by containing the elements those cells need to grow. Culture Mediums such as EmbryoGen and BlastGen have been developed to include those elements that would naturally occur in the womb.

EmbryoGen:

A culture medium used to culture embryos in a lab. Using EmbryoGen during treatment means that once your eggs have been fertilised, we’ll use EmbryoGen for around the first three days of embryo development.

EmbryoGlue:

A culture medium made with a substance-hyaluronan-that ensures the embryo sticks to the lining of the womb.