PGS or pre-implantation genetic screening is an option for patients who are undergoing in vitro fertilization or IVF at Mount Sinai Fertility. By screening your embryo’s chromosomes before embryo transfer, PGS may improve your chance of having a healthy baby. Possible benefits of PGS include increased pregnancy rate per embryo that is transferred, reduced miscarriage rate per embryo that is transferred, reduced chances of having a baby with a chromosome condition, reduced chance of multiple gestation, and reduced time between IVF and a successful pregnancy.

What are chromosomes?

Chromosomes are structures found in every cell of our body and are made up of DNA. DNA contains all the instructions for how our bodies will function, grow, and develop. Humans have 23 pairs of chromosomes in each cell of the body, or 46 chromosomes in total.

The egg contributes 23 chromosomes, or one of each pair, and the sperm contributes the other 23. So PGS determines whether your embryo has the correct number of chromosomes, but why is this useful? If an embryo has an incorrect number of chromosomes, either too many or too few, then it cannot develop normally. While people of all ages are at risk of having an embryo with a chromosome difference, this risk increases with age, specifically the age of the person providing the egg. If an embryo with an incorrect number of chromosomes is transferred to the uterus, it can fail to implant and not result in a pregnancy, implant and lead to a pregnancy, but then result in miscarriage, or result in a baby with a chromosomal condition.

How is PGS performed?

Embryos created through IVF are grown in the lab until they reach the blastocyst stage, which is at day 5 or day 6 after fertilization. A few cells are then removed from the part of the embryo that will develop into the placenta. This is called an embryo biopsy. The biopsied cells are sent to the laboratory for chromosome screening while your embryos remain frozen at Dr Kamini Rao Hospitals. You will be contacted by a genetic counsellor with the PGS results of this IVF Hospital in Bangalore once they are available, and then embryos with the correct number of chromosomes are selected for transfer or can remain frozen for future use. Let us now give you a detailed case study from Dr Kamini Rao Hospitals – role of pre-implantation genetic testing, PGT, in IVF success. Today we’ll explore how PGT offers a vital solution for couples facing recurrent miscarriages and genetic concerns. Recurrent miscarriages can be incredibly heartbreaking and are often linked to underlying genetic abnormalities in embryos.

Pre-implantation genetic testing, or PGT, has emerged as a vital tool in modern IVF, helping to mitigate these risks and significantly improve outcomes. Let’s delve into a specific case that highlights the transformative potential of PGT. Our case features a 34-year-old woman and her 36-year-old partner who came to us with a history of two unexplained miscarriages. Despite having normal fertility test results, doctors suspected chromosomal issues in their embryos, leading to a recommendation for IVF with PGT.

Key steps of their IVF journey with PGT:

• First, ovarian stimulation was performed, leading to the retrieval of 15 eggs. These eggs were then fertilized through ICSI, or intracytoplasmic sperm injection, resulting in 12 viable embryos.
• On day five, biopsies were meticulously performed on the embryos, followed by next-generation sequencing to analyse their genetic makeup. This advanced genetic screening identified seven embryos that were genetically normal, free from chromosomal abnormalities.

The results of this process were truly life-changing for the couple. One healthy, genetically normal embryo was carefully selected and transferred to the woman’s uterus. This led to a confirmed pregnancy and, ultimately, the full-term birth of a healthy baby.

This case powerfully illustrates the profound benefits of PGT in reproductive medicine. PGT allows doctors to meticulously screen embryos for chromosomal abnormalities, acting as a crucial safeguard against potential issues. This screening significantly improves the chances of successful implantation and dramatically lowers the risk of recurrent miscarriages.

In conclusion, PGT offers immense hope for couples on their fertility journey. While not a guaranteed solution, PGT can be truly life-changing for couples with recurrent pregnancy loss or known genetic concerns. This technology represents a major step forward in reproductive medicine, giving families a much better chance at achieving a healthy pregnancy and building the family they’ve always dreamed of.

Who should consider PGS?

Everyone who is having IVF can potentially benefit from PGS. However, it can be particularly beneficial if you are older than 36, you’ve had history of multiple miscarriages, you’ve had multiple embryo transfers that have not been successful, or you have had a pregnancy affected by a chromosomal abnormality.

Let’s take a moment to discuss the possible results of PGS. Your embryo could be euploid, meaning that it has the correct number of chromosomes and has the best chance of resulting in a pregnancy and developing into a healthy baby. You could have an aneuploid embryo, which has too few or too many chromosomes.

In most cases, these will not result in a pregnancy, and if one does occur, there will be a high chance of miscarriage. Sometimes results aren’t as clear and are considered inconclusive. You may hear the term mosaic, which means that your embryo has some cells with the correct number of chromosomes and some with extra or missing whole or partial chromosomes. These types of embryos have many possible outcomes, which your genetic counsellor will discuss further with you. There could also be failed or indeterminate results, meaning that it was not possible for the lab to provide a result for the embryo. It may be possible to re-biopsy and re-test the embryo, and your counsellor will discuss these results with you in more detail as well.

Fellowship in Reproductive Medicine in Medline Academics

PGT is an extremely crucial topic and carries a lot of weightages in the curriculum for Fellowship in Reproductive Medicine in India. In Bangalore, Medline Academics fellowship courses in infertility are most demanded due its format – the hybrid setup which is convenient for the students who are practicing clinicians. Though most of the classes are conducted online, attendance is mandatory and the top faculties from across the nation are conducting these sessions which are live and interactive.

While PGS may improve IVF outcomes, it is important to keep in mind that it has limitations. Some individuals may need multiple IVF cycles with PGS before a euploid embryo is identified for transfer, especially if they do not produce many eggs. PGS may not improve pregnancy rates if there’s a problem with the uterus that prevents implantation.

PGS cannot detect all possible chromosome differences, single gene disorders like cystic fibrosis or sickle cell anaemia, multifactorial conditions like autism spectrum disorder, or congenital birth defects. Please remember that although transfer of a euploid embryo increases the chance of pregnancy, does not guarantee it.