Genetic profiling is a breakthrough in reproductive technology that aims to increase the positive outcome of IVF treatments. For couples who have struggled with infertility for years and finally opt for IVF, enduring multiple IVF cycles can be very tough in every way. Genetic profiling helps reduce such unsuccessful cycles.
Assisted Reproductive Technology (ART) refers to a range of medical procedures, including fertility treatments, that aim to help couples conceive by working with eggs, sperm, or embryos outside the body. IVF is the most common form of ART.
Though ART takes control of the eggs, sperm, and embryo to increase pregnancy outcomes, a positive outcome is never guaranteed, as multiple factors influence the outcome. One of the biggest factors is genetics. If the sperm or egg has genetic issues, it is beyond the control of IVF or any ART method, and the pregnancy may not succeed. The only way to remove or considerably reduce this risk factor is through genetic profiling.
Genetic profiling or DNA profiling refers to DNA analysis of the embryos or even the carrier and both partners to check for chromosomal abnormalities or other genetic traits that could lead to a miscarriage or IVF failure.
Genetic profiling helps identify inherited disorders, the causes of infertility or pregnancy complications, to increase the successful outcome of IVF. By choosing the healthiest embryos, the couples can maximise their chances of a successful IVF pregnancy and prevent the transfer of severe genetic diseases to their offspring.
Genetic profiling in fertility treatments mainly uses Preimplantation Genetic Testing to screen the embryo for abnormalities. The various types of PGT are –
● PGT-A – A healthy embryo should have 23 pairs of 46 chromosomes. Aneuploid embryos have extra or missing chromosomes, making them more prone to miscarriages, implantation failure, or birth defects. The PGT-A test checks for such embryos, and only the healthy ones are transferred during the embryo transfer in IVF.
● PGT-M – A test to check for specific genetic mutations like Huntington’s or cystic fibrosis. If the prospective parents or their family members have such genetic issues, this test specifically checks the embryos to rule out such transfers.
● PGT-SR - Screens for chromosomal structural abnormalities like translocations or inversions. This test is used for couples who have suffered miscarriages for no apparent reason.
Genetic Profiling is also done for prospective parents to check for genetic issues that can be passed on from the parents to the offspring and cause IVF failures.
● Carrier Screening – This tests the parents for specific genes that could lead to serious conditions in the baby, even if the parents show no obvious symptoms. In many cases, defective genes do not show any symptoms unless triggered, and this test aims to catch them before they can be passed on to the baby. If the parents carry any such genes, a PGT-M will be required as a follow-up.
● Karyotyping – A test to check the parents for any chromosomal rearrangements that are not presenting any symptoms in them but can be transferred to the baby.
You may need genetic profiling in the following circumstances –
● If one or both partners have chromosomal abnormalities or genetic issues that can be passed on to the offspring.
● Family history of genetic issues.
● Past miscarriages for unknown reasons.
● History of failed IVF cycles.
● Maternal age is over 35.
● Male infertility factors.
Genetic profiling in fertility treatment can help in the following ways -
1. Infertility Diagnosis – Genetic profiling checks both partners to identify possible genetic issues or chromosomal abnormalities that could be causing their infertility. Treating the specific issue can increase the chances of natural conception or a successful IVF outcome.
2. Understand Recurrent Miscarriages – Recurrent miscarriages of natural conception or IVF conception can be due to genetic or chromosomal issues in the prospective parents or the embryo. Genetic profiling aims to identify where the issue is.
3. Prevent Transfer – Some genetic conditions, like Down Syndrome, Edwards Syndrome, or Patau Syndrome, can be easily transferred genetically. By checking for such specific chromosomal abnormalities, genetic profiling prevents the transfer of embryos with such abnormalities.
4. Healthy Embryos – Only the healthy embryos with the right pairs of chromosomes will be selected for transfer. This helps prevent the transfer of other genetic conditions too, thus breaking the hereditary health conditions.
5. Better IVF Outcomes – When the embryos are healthy and have close to zero chromosomal issues or genetic disorders, the chances of a miscarriage or implantation failure are lower. Carefully selected embryos have a better chance of implantation and healthy development, thus increasing the chances of a successful IVF outcome.
Just like any medical procedure, genetic profiling has its own set of disadvantages and risks too, such as –
1. Embryo Damage – Not all eggs extracted for IVF are fertilised successfully to form an embryo. Of these, not all embryos survive until the transfer process. Touching the successfully formed embryos to extract a sample for genetic profiling can cause damage to the embryo, sometimes even resulting in a complete loss of the embryo.
2. Implantation Failure – Manipulating the embryo to take a sample for genetic profiling can hinder the embryo’s ability to implant successfully. So, despite choosing a healthy embryo free of chromosomal abnormalities, it may not implant at all.
3. Inconclusive Results – Genetic profiling or carrier screening is not 100% accurate. There is always room for error. So, the results may not be completely accurate at all times, meaning you can get false positives or negatives on this test.
4. Pregnancy Not Guaranteed – By removing the embryos with issues or abnormalities, the test only helps reduce the risk of an IVF failure. It does not guarantee a successful IVF or pregnancy, as various other factors apart from a healthy embryo influence the outcome of any pregnancy.
5. Emotional Burden – Going through the test can cause anxiety, stress, or emotional trauma for the prospective parents. After the test, they require a sufficient number of healthy embryos for the IVF transfer to maximise their pregnancy chances. The risk of unhealthy embryos, healthy embryos getting affected due to the test, inaccurate results, etc., can make this entire experience very traumatic.
6. Very Expensive – Genetic profiling is not an inexpensive test. IVF itself is expensive, and these tests are additional costs that only try to increase the positive outcome. If a couple undergoes multiple IVF cycles and require to test the embryos every time, the financial strain can be very high.
No, genetic profiling does not identify all possible genetic issues or abnormalities. Also, the test only identifies the embryos with certain chromosomal abnormalities and looks for certain abnormalities that may be passed down genetically. Whether the embryo is discarded or used depends on the couple.
Genetic profiling is only a welcome advancement in fertility medicine, which, if used, can increase the chances of a positive IVF outcome.
IVF is a lengthy process that can be emotionally, physically, and financially draining. If you are at risk of passing on genetic conditions or are already suffering from unexplained infertility, it is essential to identify the cause and maximise the outcome. PGT or genetic profiling is a great advancement in science that increases the positive outcomes of IVF treatments.
Genetic profiling in fertility treatment is also known as preimplantation genetic testing (PGT). In this process, the embryos created through IVF are carefully screened before implantation to identify any genetic abnormalities, if any. Only the chromosomally normal embryos are selected for embryo transfer, thus increasing the chances of a successful implantation and pregnancy outcome.
Genetic profiling screens the embryos for chromosomal abnormalities before they are transferred into the uterus during an IVF treatment. When the embryo has chromosomal abnormalities, the risks of a miscarriage, stillbirth, and other negative outcomes are high. By transferring chromosomally normal embryos, the chances of a positive outcome are increased.
Couples having a family history or previous pregnancies with genetic disorders, repeated miscarriages, failed IVF cycles, or struggling with unexplained infertility can benefit from genetic profiling or Preimplantation Genetic Testing. If using donor eggs or sperm or if the maternal age is over 35, genetic testing can help reduce the risk of a negative outcome.
Some common genetic tests used in fertility care to select viable embryos, reduce the risk of miscarriages, or pass on serious conditions genetically, include – ● PGT-A (Preimplantation Genetic Testing for Aneuploidy) for general chromosomal issues. ● PGT-M (Monogenic Disorders) for specific inherited diseases (from either partner). ● PGT-SR (Structural Rearrangements) for translocations or inversions.
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