Advance Genetics Treatments In Ahmedabad

ERA

The endometrium is a type of tissue that lines the lining of the uterus. Your body builds this "nest" each month in preparation for the embryo’s arrival. Throughout pregnancy, the embryo dwells in and is connected to the endometrium. Only during a precise window of a cycle may the embryo implant. The "Window of Implantation" is the name of this window.

The diagnostic technique known as endometrial receptivity analysis, or ERA, enables us to determine the ideal window of time for embryo transfer after IVF. You can improve your chances of success by being informed of your window of implantation.

An endometrial tissue sample is needed to generate the RNA for the ERA test, which is then evaluated and classified as receptive or non-receptive based on the gene expression profile. If the endometrium is non-receptive, the test typically enables us to pinpoint a specific window of implantation for each patient. This test, which makes use of the most modern Next Generation Sequencing testing methods, analyses more than 200 genes associated with endometrial receptivity. The majority of individuals who need it have implantation failure or occasionally have early losses.

PGT-A stands for Pre-Implantation Genetic Testing for Aneuploidy. It is a genetic test performed on blastocyst embryos to identify numerical chromosomal abnormalities (aneuploidy).

In this test, blastocysts are created by IVF-ICSI. Once we have blastocyst embryos, a small biopsy is taken from the outer layer (trophectoderm) and sent for analysis.

All 23 chromosomes are analyzed using the Next Generation Sequencing method. The results of this test will reveal whether the embryo is chromosomally “euploid,” which is normal, or “aneuploid,” which is abnormal.

It is considered that by using only embryos with normal chromosomes, we can increase pregnancy rates and decrease miscarriage rates.

It is indicated in patients of advanced age, repeated IVF failures, and recurrent pregnancy losses.

PGT-M

A test called PGT-M (formerly known as PGD) stands for Pre-Implantation Genetic Testing for Monogenic diseases. It can be used on embryo biopsy samples to assess whether or not the embryos are affected or unaffected by a certain single gene disorder. During the pre-PGTM phase, the test is specifically created for each patient and their unique genetic mutation(s).

By analyzing DNA from each embryo, unaffected embryos can be identified and preferentially selected to be transferred into the woman´s uterus during future FETs.

PGT-M is indicated for patients with a diagnosis of an autosomal dominant or X-linked single gene disease and for couples where both gamete sources (both partners) are carriers of the same autosomal recessive disease.

Some examples of common diseases include:
Beta thalassemia, Hemophilia, Fragile-X syndrome, Duchenne muscular Dystrophy, Cystic Fibrosis, etc.

With this test, one can get a higher chance of a healthy baby: It maximizes the chances of having a baby free from the disease for couples who have a high genetic risk.

One can perform PGT-M and PGT-A for screening of aneuploidies in the same biopsy.

PGT-SR

This term stands for Pre-Implantation Genetic Testing for Structural Rearrangement.

This test is useful for couples whose karyotypes have revealed structural problems, including balanced translocation, inversion, etc.

In couples where even one partner has a balanced translocation, the embryo can have an unbalanced chromosome structure, which may lead to implantation failure or recurrent miscarriages.

By focusing on those particular locations, we can find embryos with normal chromosomes and use them for implantation. This process increases the chances of a healthy pregnancy.

Savior Sibling

Couples with autosomal dominant or recessive disorders have a significant chance of conceiving a pregnancy with serious genetic consequences. Haematopoietic Stem Cell Transplantation (HSCT) from a healthy HLA-compatible bone marrow donor, preferably from a sibling, may be the best treatment option or the only potential cure for patients with such conditions like beta- thalassaemia to restore normal blood cell formation. Many patients are unable to receive this treatment option due to the challenges in finding an HLA-matching donor within the immediate and extended family.

Saviour Siblings are children who are born through in-vitro fertilisation and can help in bone marrow donation so that a brother or sister will be saved from a life-threatening genetic disorder.

In this process, a detailed genetic counselling is done to understand the patient’s need. Once that is done, testing is done to identify the affected gene in the parents and the affected child along
with HLA typing.

With the help of IVF-ICSI, blastocyst embryos are created and a biopsy is taken for further testing.

This testing includes:
PGT-M: to get unaffected embryos
PGT-A: to get chromosomally euploid embryos out of those affected embryos
HLA-Matching: to get a chromosomally euploid, unaffected, HLA matched embryo.

Once testing is completed, a properly matched embryo is transferred back to the uterus and the child born is a saviour sibling for the brother or sister.

Savior sibling

Savior siblings are children who are born through in-vitro fertilization and can help in bone marrow donation so that a brother or sister will be saved from a life-threatening genetic disorder.

In this process, detailed genetic counselling is done to understand the patient’s need. Once that is done, testing is done to identify the affected gene in the parents and the affected child along with HLA typing.

With the help of IVF-ICSI, blastocyst embryos are created and a biopsy is done for further testing.

This testing includes:

PGT-M: to get unaffected embryos
PGT-A: to get chromosomally euploid embryos out of those affected embryos
HLA-Matching: to get a chromosomally euploid, unaffected, HLA-matched embryo.

Once testing is completed, a properly matched embryo is transferred back to the uterus and the child born is a savior sibling for the brother or sister.