You can still mark your IVF journey safe and healthy. Choose the right genetic testing options available for pregnant women to help identify potential genetic disorders or birth defects in their unborn child.
PGT- A : End your struggle to conceive
Preimplantation genetic testing for aneuploidy (PGT-A) is a specialized genetic testing procedure that is used to detect chromosomal abnormalities in embryos created through in-vitro fertilization (IVF) before they are implanted into the uterus. PGT-A is used to identify embryos that have the correct number of chromosomes, also known as euploid, and those that have an abnormal number of chromosomes, also known as aneuploid.
During PGT-A, a small number of cells are removed from an embryo and analyzed for chromosomal abnormalities. This allows doctors to select the most viable and healthy embryos for implantation, increasing the chances of a successful pregnancy. PGT-A is a boon for couples who have had multiple failed IVF cycles or for those who are at a higher risk of having a child with a chromosomal disorder such as Down syndrome.
PGT-A is Recommended For:
- Reduced risk of miscarriage: Embryos that have chromosomal abnormalities are more likely to result in miscarriage. By identifying and discarding these embryos, PGT-A reduces the risk of miscarriage.
- Identifying Genetic Disorders: PGT-A can also be used to identify embryos that carry genetic disorders, allowing couples to make informed decisions about family planning.
- Advanced Reproductive Age: As women age, the risk of having a child with chromosomal abnormalities increases. PGT-A can help identify chromosomally normal embryos in women of advanced reproductive age, increasing the chances of a successful pregnancy.
- Recurrent IVF failure: For couples who have had multiple failed IVF cycles, PGT-A can help identify chromosomally normal embryos that may have been overlooked in previous cycles.
Benefits of PGT-A
- Increases the chance of a healthy pregnancy across all age groups-The risk of having a pregnancy with a chromosome abnormality increases as females age.
- Reduces the likelihood of miscarriage- Embryos are chosen primarily on their visual quality – which cannot distinguish chromosomally normal embryos from abnormal ones. IVF cycles that do include PGS enable the identification of embryos with normal chromosomes, and are more likely to result in a pregnancy that leads to a healthy baby.
- Reduces time between IVF cycles-Preimplantation Genetic Screening reduces time between IVF cycles by allowing the identification of a normal embryo as soon as possible. If a woman goes through an IVF cycle and a normal embryo is not identified, she can start her next cycle right away.
- Allows for confident single-embryo transfer, which helps avoid the added health complications associated with twin or triplet pregnancies-PGS allows for single-embryo transfer by identifying the embryo that has the best chances of implanting and leading to a healthy child. Multiple pregnancies can cause increased risk for complications during pregnancy, such as preterm birth, abnormal placental function, preeclampsia, and others.
PGT- M : Ensure your baby’s good health and minimize the risk of genetic disorder
Preimplantation Genetic Testing for Monogenic disorders (PGT-M) is a specialized genetic testing procedure used to detect specific genetic disorders caused by mutations in a single gene. PGT-M is used to identify embryos that carry a specific genetic disorder before they are implanted into the uterus, increasing the chances of having a healthy child.
During PGT-M, a small number of cells are removed from an embryo created through in-vitro fertilization (IVF) and analyzed for specific genetic mutations associated with a particular disorder. This can be done by using techniques such as PCR, Sanger sequencing, or Next generation sequencing (NGS).
PGT-M can be used to test for a wide range of monogenic disorders, such as cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and many others. It’s important to note that PGT-M is not a diagnostic test and is not always able to detect all genetic mutations. Therefore it is important to seek genetic counseling before making any decision about undergoing PGT-M.
– PGT-M is Recommended for:
- Couples who have a family history of a specific genetic disorder: PGT-M can be used to identify embryos that do not carry the genetic mutation associated with the disorder and increase the chances of having a healthy child.
- Couples who are carriers of a specific genetic disorder: PGT-M can be used to identify embryos that carry the genetic mutation associated with the disorder and allow couples to make informed decisions about family planning.
- Couples who have previously had a child with a specific genetic disorder: PGT-M can be used to identify embryos that do not carry the genetic mutation associated with the disorder and increase the chances of having a healthy child in the future.
- Couples with recurrent miscarriage: PGT-M can be used to identify embryos that carry genetic mutations associated with recurrent miscarriage, and increase the chances of a successful pregnancy.
- Couples with advanced reproductive age: As women age, the risk of having a child with genetic disorders increases. PGT-M can be used to identify embryos that do not carry genetic mutations associated with these disorders, and increase the chances of a successful pregnancy.
– How is the PGT-M performed?
Preimplantation genetic diagnosis begins with the normal process of in vitro fertilization that includes egg retrieval and fertilization in a laboratory. Over the next three days the embryo will divide into eight cells.
Preimplantation genetic diagnosis involves the following steps:
- First, one or two cells are removed from the embryo.
- The cells are then evaluated to determine if the inheritance of a problematic gene is present in the embryo.
- Once the PGT-M procedure has been performed and embryos free of genetic problems have been identified, the embryo will be placed back in the uterus, and implantation will be attempted.
- Any additional embryos that are free of genetic problems may be frozen for later use while embryos with the problematic gene are destroyed.
HLA Typing – It is possible to save your child from any genetic disorder
HLA typing is used to identify the HLA alleles of the embryos created during the IVF process. This information can be used to select the most suitable embryo for implantation in the uterus, with the goal of increasing the chances of a successful pregnancy. There are different methods for HLA typing embryos, but one commonly used technique is called preimplantation genetic testing for HLA matching (PGT-HLA). This method involves removing one or a few cells from an early-stage embryo, and then analyzing the cells’ DNA to determine the HLA alleles.
PGT-HLA can be used to match the HLA alleles of the embryos with those of the intended parents or with those of a sibling who is affected by a genetic disorder that is HLA-related. It also can be used to identify embryos that are not suitable for implantation due to chromosomal or genetic abnormalities.
What is HLA?
HLA or Human leukocyte antigen is our health DNA, which is responsible for strengthening our immune system.
HLA matching is used in conjunction with PGD for healing children with genetic illnesses such as thalassemia, leukemia, Wiskott Aldrich syndrome. It is an ideal option for couples who can’t find a suitable donor in close relatives.
How HLA Matching Works?
HLA Matching works with the aid of stem cell transplantation from a sibling born out of IVF.
Couples undergo the IVF process, and a PGD (PGD (Pre Genetic Diagnostics) is done during fertilization of the embryos for checking HLA compatibility with the sick sibling.
Upon successful IVF motherhood, the stem cells from the chord of the resulting child are used to cure the sick sibling. This process is known as “HLA typing in embryos.”
Other than curing genetic conditions in siblings, HLA matching can also be used to ensure a safe and healthy IVF baby for couples carrying genetic disorders.
PGT-SR : A healthy pregnancy is possible even after failed IVF Cycle, Recurrent Abortion or Advanced Age
Preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR) is a specialized genetic testing procedure that is used to detect structural chromosomal rearrangements in embryos created through in-vitro fertilization (IVF) before they are implanted into the uterus. Structural chromosomal rearrangements are changes in the structure of chromosomes such as deletions, duplications, inversions, and translocations. These changes can affect the normal functioning of the genes and can lead to genetic disorders.
During PGT-SR, a small number of cells are removed from an embryo and analyzed for structural chromosomal rearrangements. This can be done by using techniques such as fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH). This allows doctors to select the most viable and healthy embryos for implantation, increasing the chances of a successful pregnancy.
PGT-SR is recommended for couples
- Multiple failed IVF cycles
- Recurrent miscarriage
- Advanced reproductive age
- Have a family history of structural chromosomal rearrangements, such as Down syndrome, Turner syndrome, and others.
The benefits of PGT-SR include:
- Identifying and avoiding the transfer of embryos with structural chromosomal rearrangements, which can lead to genetic disorders or miscarriage.
- Improving the chances of having a healthy baby by selecting only unaffected embryos for transfer.
- Reducing the need for invasive prenatal testing, such as amniocentesis, which carries a small risk of miscarriage.
- Helping couples who have a history of recurrent miscarriage or who are at a high risk of having a baby with a genetic disorder to have a healthy pregnancy.
- It can also help in cases of recurrent implantation failure or recurrent IVF failure.
Mitochondrial Score: Conceiving is possible even if you have a poor ovarian reserve or low AMH
Mitochondrial score is a measurement of the functional status of the mitochondria, which are the energy-producing organelles within cells. Mitochondria play a crucial role in the energy metabolism of cells, and their dysfunction has been linked to a wide range of diseases, including infertility.
Mitochondrial score is used as a tool in the field of reproductive medicine, specifically in the evaluation of embryos during IVF, in order to select the most viable and healthy embryos for implantation. A higher mitochondrial score is believed to indicate that the embryo has a greater chance of implanting and developing into a healthy pregnancy.
Mitochondrial score is used in combination with other parameters, such as chromosomal analysis, to make a comprehensive assessment of the embryo’s overall quality.
Mitochondrial score is recommended for couples who are undergoing IVF or other ART treatments and have one or more of the following:
- Advanced maternal age (usually defined as over 35 years old)
- Recurrent implantation failure
- Recurrent IVF failure
- Poor egg or embryo quality
- Poor ovarian reserve
Mitochondrial score can provide information on the quality of the eggs, which can be used to predict the chances of success with IVF and other ART treatments.