Having a known family history of genetic disease might turn the thought of having kids into a nightmare for some family members. The thought of having a baby with a hereditary disease might make the parents very scared. Luckily, today we have tools to safeguard the future of the family. One of them is a test that can be done before implantation in the process of In Vitro Fertilization called PGT-M, which stands for Preimplantation Genetic Testing for Monogenic Disorders.
As the Best IVF Centre in Green Park, we at Zemya IVF & Fertility Clinics understand how difficult making such decisions can be for you and your family. It is our responsibility, as an IVF Clinic in Green Park, to give your future children the best genetic background possible from their inception.
What is PGT-M?
Preimplantation Genetic Testing for Monogenic Disorders, which used to be called preimplantation genetic diagnosis, is an extremely advanced genetic diagnosis test at an early stage. While regular screenings are conducted to determine the total number of chromosomes, PGT-M specifically aims at detecting a mutation in a single gene.
In case of either one or both individuals carrying a certain genetic disorder or any past instances of certain diseases in the family, PGT-M provides the advantage of choosing embryos that lack the disorder to undergo embryo transfer, thus minimizing the chances of giving birth to an affected child.
Common Conditions Screened by PGT-M
Testing for monogenic disorders is a way to identify hundreds of different conditions that are caused by a single gene. Some of the most common examples are:
- Autosomal Recessive Conditions: These are diseases that a child will get only if he/she inherits two faulty genes (one from each parent). Examples are Cystic Fibrosis, Sickle Cell Anemia, and Thalassemia.
- Autosomal Dominant Conditions: A disease will be passed on if the child gets one faulty gene from the affected parent, for example, Huntington’s Disease.
- X-Linked Disorders: Diseases due to malfunctioning genes present in the X chromosome, like Muscular Dystrophy and Fragile X Syndrome.
What this means is that the analysis of the DNA in the embryo stage results in monogenic disorders, avoiding the handover of these serious diseases to the next generation.
The PGT-M Process: Step-by-Step
The procedure for PGT-M is more complicated than the ordinary IVF treatment because the tests need to be specially designed for each family’s individual mutation.
1. Test Designing and Linkage Analysis
Before starting the IVF, the laboratory for PGT will have to design an individual “probe” for your family. This will require collecting the genetic material of the family members. The process is necessary to ensure the ability of the laboratory to trace the identical genes through the generations.
2. In Vitro Fertilization (IVF)
The patient goes through the usual IVF procedure. It consists of stimulation of the ovaries to produce eggs. It is essential to have high-quality eggs to increase the number of embryos that can go through the test procedure.
3. Embryo Biopsy
When the embryos that are made develop to the blastocyst stage (Day 5 or 6), a very experienced embryologist can do embryo biopsy. A small number of cells are taken out very cautiously for genetic test purpose.
4. Genetic Testing for Monogenic Disorders
The sample cells taken are sent to the lab, where genetic testing for preimplantation is carried out. The laboratory will be able to find out which embryos are normal (unaffected), which are carriers, and which are affected.
5. Embryo Transfer
The embryos for the embryo transfer are only those healthy ones that are completely free from the disease. The other remaining unaffected embryos can be cryopreserved for future utilizations.
Who Should Undergo PGT-M?
Pregnancy genetic screening through PGDM is advised to couples who:
- Have been identified as carriers of an autosomal recessive disease.
- Have a family or personal history of having high-risk dominant disorders.
- Previously experienced pregnancies affected by genetic diseases.
- Need HLA matching to find a match with the stem cells of their sick sibling.
- Had a Carrier Genetic Test (CGT) that identifies a high risk for the child.
Although pregnancy diagnosis methods such as amniocentesis can identify these problems while pregnant, some prefer PGDM since it saves them from the hard decision of terminating their pregnancy to have a healthy one.
The Clinical Utility and Success of PGT-M
The clinical utility of pgt m success remains quite convincing. For family planning among high-risk hereditary cases, the chance of having a healthy offspring is greatly enhanced. At Zemya IVF & Fertility Clinics, our IVF Centre in Green Park implements state-of-the-art preimplantation genetic testing technology to maintain precision.
Yet, being aware of the technical constraints is equally necessary. There always exists a slight chance of inaccurate diagnosis, which is the reason why following up the pregnancy as well as confirming prenatal diagnosis is often advised. Besides, the effectiveness is also regulated by the number of embryos; situations with ovarian stimulation that are not effective might lead to fewer embryos being available for testing.
Why Go for Zemya IVF & Fertility Clinics?
Being the Best IVF Clinic in Green Park, we take a multi-dimensional approach to Human Reproduction.
- Expertise of our Professionals: Our genetic counselor enables you to grasp information about your carrier status and PGT M test results efficiently.
- Advanced Testing Method: We have collaborations with the most competent laboratories that carry out testing for monogenic defects.
- Comprehensive Testing Approach: In most cases, we opt to combine PGT M testing with PGT A (test for aneuploidy/chromosome number) so that you get an embryo with both proper genes and chromosome count.
- Sincere Support Services: Being aware of the emotional trauma caused by genetic defects, our Green Park IVF Clinic has all the facilities to assist you during your entire fertility process.
Frequently Asked Questions
No. Preimplantation genetic testing for aneuploidy (PGT-A), previously called preimplantation genetic screening (PGS), checks for chromosomal abnormalities, such as Trisomy 21, which causes Down syndrome. Preimplantation genetic testing for monogenic diseases (PGT-M) checks for a specific genetic disorder linked to a particular gene mutation.
Yes, in cases where both parents have different genetic disorders, the laboratory can test for additional genes or other single-gene disorders in one embryo.
In terms of diagnostic accuracy, PGT-M results are almost 99% correct. The likelihood of a baby after that varies based on typical IVF influencing factors, such as the age of the woman and the quality of the embryo.
The biopsy of the embryo, done by a specialist of the highest qualification in a premier IVF Clinic in Green Park, at the blastocyst stage, would be very unlikely to harm the embryo’s ongoing development.
Since the making of a specific probe from the use of DNA samples is necessary, the test preparation step may be extended from 4 to 8 weeks before initiating your IVF cycle.