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The role of genetics in fertility: key insights and advancements

Fertility genetics has been a very laid back topic until recently. It was always considered that fertility and genetics are two different streams and were only considered in couples having history of inherited genetic condition. But now the science is growing. The technology is evolving and so are the management options. There is a lot of research that has been done and is still happening on the genetic factors in fertility that can be held responsible for majority of failures of conception in IVF also. When a couple who is suffering with infertility undergoes treatment especially IVF treatment they have very high hopes and expectations of getting the desired results but when this doesn’t happen it gets very shattering and disheartening. At times everything seems perfect and still ivf fails. The specialist also has no answer to it. These are the situations where the role of genes in fertility treatment has come up.

While the exact cause of PCOS is unknown, doctors believe that hormonal imbalances and genetics play a role. Women are more likely to develop PCOS if their mother or sister also has the condition. PCOS may also manifest because of the changing lifestyle trends like late working hours, bad food habits, lack of sleep and exercise, etc. resulting in various medical conditions such as obesity, which in turn cause hormonal imbalance.

Preimplantation genetic testing (PGT) is a procedure used in assisted reproductive technology (ART) or IVF to screen embryos for genetic abnormalities before they are transferred to the uterus. PGT involves the testing of embryos created through in vitro fertilization (IVF) to identify genetic conditions or chromosomal abnormalities.
There are two main types of preimplantation genetic testing:
• Preimplantation genetic diagnosis (PGD): PGD is used to identify specific genetic conditions or single gene disorders that are known to be present in one or both parents. It involves testing a small number of cells from the embryo to determine if it carries the genetic mutation or condition of concern. PGD is often used when one or both parents are known carriers of a genetic disorder and want to prevent passing it on to their children.
• Preimplantation genetic screening (PGS): PGS is used to screen embryos for chromosomal abnormalities, such as aneuploidy, which is an abnormal number of chromosomes. PGS is particularly useful for couples with a history of recurrent miscarriages or advanced maternal age, as the risk of chromosomal abnormalities increases with age. By selecting embryos with the correct number of chromosomes, the chances of successful implantation and a healthy pregnancy can be improved.
The process of preimplantation genetic testing involves several steps:
• Ovarian stimulation and egg retrieval: The woman undergoing IVF treatment receives hormonal medications to stimulate the development of multiple eggs. The eggs are then retrieved through a minor surgical procedure.
• Fertilization and embryo development: The retrieved eggs are fertilized with sperm in the laboratory, either through conventional IVF or intracytoplasmic sperm injection (ICSI). The resulting embryos are allowed to develop for a few days.
• Embryo biopsy: At the blastocyst stage (around day 5 or 6 of development), a few cells are removed from each embryo for testing. This biopsy is typically performed by removing a few cells from the outer layer of the embryo called the trophectoderm.
• Genetic testing: The cells obtained from the biopsy are sent to a specialized laboratory for genetic analysis. Depending on the type of testing (PGD or PGS), different techniques may be used, such as polymerase chain reaction (PCR), fluorescent in situ hybridization (FISH), or next-generation sequencing (NGS).
• Embryo transfer: After the genetic testing is completed, the embryos that are found to be free from the identified genetic condition or chromosomal abnormalities can be selected for transfer to the uterus. This is typically done in a subsequent IVF cycle.

As human beings there is a very basic rule of nature that we grow then we get married and then we procreate n that is how the generations continue. Often we have heard our elders say that kundali and gotra is important . Marriages should be done according to them. But younger generation always feels this is rubbish now with fertility genetics we can understand the scientific relevance of gotra. So that your genetic makeup is not same else it can create a lot of trouble in reproduction. And Every couple at some point or other in their life wants to procreate. PGS is actually a boon for all such couples who can still have their own genetic child.

Dr Anshika Lekhi
Senior Gynaecologist and IVF specialist
Co Director IVF
Cloud nine hospital, GCR,Gurgaon

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