Detecting genetic abnormalities during IVF Procedure - SPARSH Hospital

Published in : Women & Children | August 21, 2023 |

Detecting genetic abnormalities during IVF Procedure

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Amit and Maya are a couple in their late 30s who have been trying to conceive for the past 5 years. Maya has a history of miscarrying early in the pregnancy. After a couple of such incidents, they met a gynaecologist to to avoid such miscarriages in the future.

After a thorough examination and ruling out any physical abnormalities in both of them, they were advised to go for genetic testing prior to IVF. This was to see if either of them had any genetic abnormalities which were causing the spontaneous abortions in Maya.

Genetic testing revealed that both Amit and Maya had small genetic abnormalities. Since they themselves did not show any symptoms, they were unaware of it. Studies have shown that when either or both parents have issues such as these, the chances of the baby inheriting it increases leading to increased miscarriages.

In this case, they were advised to go through an IVF procedure with Preimplantation Genetic Testing or PGT.

Through IVF, the egg was retrieved from Maya and fertilized with Amit’s sperm in the laboratory. The embryo was then kept under observation for around 5 days. By this time, the embryo had around 120-150 cells. The embryo was frozen and a few cells were removed for genetic testing. Once the test results arrived, only a healthy embryo was thawed and implanted in Maya’s uterus. This genetic testing done before the implantation had reduced the chances of Maya’s embryo being genetically abnormal leading to better chances of carrying the baby to full term.

According to the Call to Action, a report by Ernst and young, Globally, over 2.5 million IVF cycles are being performed every year and, in India alone, 2-2.5 lakh IVF cycles are being performed yearly.

PGT is done in cases like Maya’s where she had a history of multiple miscarriages. If the age of the mother is over 35, the likelihood of having a genetically abnormal embryo increases. In addition, both Maya and Amit themselves had chromosomal abnormalities.

Although PGT does involve a small risk to the embryo (1% to 2%), the odds outweigh the risks.

PGT is the only method available at present for screening embryos before pregnancy. The other option would be to do a diagnostic procedure (i.e. amniocentesis or chorionic villus sampling) after pregnancy is confirmed. This is frequently followed by the emotionally difficult decision to terminate pregnancy.

PGT allows for better embryo selection, which improves implantation rates with single embryo transfer and reduces miscarriage rates. Pregnancy complications such as multiple births, preterm or low birth weight infants can be reduced with single embryo transfers.

All said and done, PGT is not foolproof. There is a small (1%-2%) chance the lab may get inconclusive results for an embryo, meaning they are unable to determine whether the embryo is chromosomally normal or abnormal.

The procedure itself exposes the embryo to some risk.

Good preimplantation and prenatal testing do not guarantee that the child won’t be affected by physical or mental handicaps of other kinds.

In the case of Amit and Maya, they went on to carry a full term pregnancy and gave birth to a normal child.

Whether PGT can truly improve live birth rates beyond these situations is unclear. The technology is still rather new and constantly evolving.

Some doctors claim to see improved success, while others question whether it’s truly worth the additional costs and risks. Some think it should be offered to every IVF patient; others believe it should be offered rarely, in very specific cases.

Only you and your doctor can decide if IVF with PGT is right for your family. Before you decide, make sure you understand why your doctor recommends this assisted reproductive technology for you and the potential risks.


Dr. Deepthi Bawa

Consultant Gynaecologist, Laparoscopic & Hysteroscopic Surgeon, Consultant Reproductive Medicine & IVF

5 Mins Read

Categories: Women & Children

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