Fertility patients often ask about Pre-implantation Genetic Testing (PGT) and whether it is something that will benefit them. Here’s a little more detail about what it is and why it might be necessary…but of course you should always speak to your fertility consultant before deciding on any additional procedures.
PGT examines embryos before possible transfer to the woman’s uterus to both identify embryos that may fail to implant and go on to miscarry, and/or identify inheritable genetic defects that could cause death or chronic illness.
There a three different types of PGT:
- Pre-implantation genetic screening for abnormal chromosome number – PGT-A
- Pre-implantation genetic testing for monogenic disease – PGT-M
- Pre-implantation genetic testing structural arrangement – PGT-SR for known chromosomal arrangements, such as inversion and translocation
PGT-A
Your fertility specialist may recommend this test if there is a history of chromosome problems in your family, if your sperm is at risk of carrying abnormal chromosomes or if you have experienced several failed pregnancies or IVF attempts. It is also often recommended to women over the age of 37 with any of these risk factors.
PGT-M
This test looks for specific gene mutation common for disorders such as Huntingdon’s disease, Cystic Fibrosis, Fragile-X Syndrome and Muscular Dystrophy.
PGT-SR
Embryos with a chromosomal structural rearrangement are less likely to result in a live birth, so testing for this condition can help to prevent repeated miscarriages.
How is PGT carried out?
Your physician will take a tiny sample of cells from a five or six-day-old embryo, which are then analysed in a laboratory with results usually available within a few days. In the meantime the embryo is frozen immediately after the biopsy to wait for the result of the test. If all is well it can then be thawed and transferred to the womb.
Are there any risks to PGT?
PGT carries a small risk because the handling, cell biopsy, freezing and thawing can result in the embryo not implanting. Plus, of course, the test is not 100% accurate and this means we also recommend that fertility patients undergo usual prenatal tests during pregnancy, such as amniocentesis.
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