Overview:
Over recent decades, significant strides in medical genetics have propelled the field forward. The integration of genetic technologies into reproductive medicine marks the advent of a promising new era in healthcare, poised for substantial growth in the foreseeable future. In conjunction with In Vitro Fertilization (IVF), it is now feasible to extract cellular biopsies from developing embryos and subject them to increasingly sophisticated genetic evaluations.
Why It's Done:
- Women of advanced maternal age
- Couples with a history of recurrent pregnancy loss
- Couples encountering repeated IVF failures
- Male partners with severe male factor infertility
How You Prepare:
What to Expect:
- Egg retrieval and fertilization.
- An embryologist or clinician performs an embryo biopsy on day five blastocysts.
- Biopsy samples undergo analysis for chromosomal abnormalities and are categorized as either normal (Euploid) or abnormal (Aneuploid).
- The genetic testing laboratory delivers results to the clinician.
- The best blastocyst embryos are transferred into the uterus.
Results:
PGT-M: An Overview
In PGT-M, embryos are analysed for the presence of a specific abnormal gene, one that can cause disease and is known to be carried by the parents or to be present in the family of the parents. There are many diseases caused by defects in single genes: hemophilia, spinal muscular atrophy, Tay Sachs Disease, Huntington’s Disease, cystic fibrosis, and sickle cell anaemia are all examples. The procedure for PGT-M is the same as that for PGT-A and involves in vitro fertilisation to produce embryos, followed by embryo biopsy of blastocysts.
The biopsied samples are also prepared and sent to the genetics specialty laboratory, which has already acquired information about the parents, and their families in order to better identify the abnormal gene. The blastocysts are frozen until the genetic diagnosis for each embryo is made and doctors from our centre then provide the patients with details of the analysis and advise as to which embryos are safe for transfer.
The Benefits of PGT-M (formerly PGD)
PGT-M has the ability to identify specific embryos that are either affected by a disease caused by a defect in a single gene or are carriers of the affected gene. By avoiding the transfer of affected embryos, patients can ensure that children resulting from IVF are free of the disease that plagues their families.
Can PGT-A and PGT-M Be Performed Together?
Yes, it is possible to evaluate the number of chromosomes along with the presence of a single gene defect in the same embryo. It should be noted that some embryos may not reach the blastocyst stage or may not be suitable for biopsy.