An overview of Pre-Implantation Genetic Diagnosis

Earlier a very interesting success story which belongs to Mrs. B was shared in our blogs. She visited at the Indo Nippon IVF and consulted the doctors here for the IVF procedure, but all was in vain. For the complete team, this case was a great challenge. She went for the IVF procedure many times but every time, after she conceives, preterm delivery is the result and the babies are not able to survive. A couple of fresh embryo transfers are attempted in a surrogate using her cryopreserved Blastocysts. The conception was positive but later, congenital defects were detected in her anomaly scan leading to a miscarriage.

The couple has completely lost hope of having their own child. Now, the Indo Nippon IVF has other thoughts, they decided to find the root cause creating this problem. They learned that there were some anomalies in the report of the wife after doing Karyotyping on the couple. Finding this, they do conduct a Pre-Implantation Genetic Diagnosis on Day 5 cryopreserved embryos. The process allowed isolating a single normal blastocyst, which was then implanted in the surrogate. The process was a huge success and it led to the birth of a beautiful and healthy baby girl. You can witness that the Pre-Implantation Genetic Diagnosis famously known as PGD have a big part to play in the success story of Mrs. B. Now, it’s our absolute duty to let you know more about this brilliant technology.

PGD is referred to one or both parents when they are known to have some kind of genetic abnormality. The testing on an embryo is then performed to check out that if it carries the same genetic abnormality or not. The cures of most of the genetic conditions do not exist and we are not sure whether they will exist at all. For the available treatments too, there are some risks of adverse effects which we have to take. Those risks do have a huge psychological impact on the families of the patients. But we have to take them instead of waiting for when the accurate cure for the problem will be available. There are a few advantages of PGD which makes it an important process while conducting it with an IVF process. The advantages are mentioned below.

• It’s a great alternative for prenatal diagnostic testing: A lot of couples now opt for it to avoid the distress which is closely associated with the diagnosis.
• An alternative for termination of pregnancy: If a genetic abnormality is found while parental testing, the parents have very limited options. Either they have to go for a pregnancy termination or they have to give birth to a child with a genetic condition. This is a very difficult decision to take but can be eliminated easily if the PGD is done before the pregnancy begins.
• Could conceive a pregnancy which will be biologically the parents’ but will have no effect from the family’s genetic condition: There are couples for whom, parental testing or termination is not considered as an acceptable choice. They also don’t want to take the risk of a genetic condition possessed by a child. There are potential parents in the past who, knowing about their genetic condition choose adoption, embryo donation, or egg/sperm donation as an option. Sometimes, they don’t ever want to have children so that there is no risk of passing the condition to their kid. These couples can now have kids free from the genetic conditions with the help of PGD.

Alike most other scientific techniques, PGD is not completely risk-free either. But the risks which are involved in PGD are quite similar to the risks involved with conventional IVF. They are-

• Multiple Pregnancy: If the parent is pregnant with a twin or multiple, the complications tend to be higher. (That risk can be reduced to a great extent with transferring only one embryo)
• The reaction of fertility drug: A few reactions like hot flushes, feeling down or irritable, headaches and restlessness will occur but the good news is that they will disappear very soon.
• Pelvic Infection
• Ovarian Hyperstimulation Syndrome (OHSS): There are various symptoms like abdominal pain and swelling, shortness of breath, nausea, vomiting, and a reduction in urine output. It can also result in clotting problems or mineral imbalance in the blood.
• Ectopic Pregnancy: The development of pregnancy will be seen in the fallopian tube and not the womb.
• Miscarriage: The risk of miscarriage via IFV is same is with natural conception.

Just like the risks which are linked with PGD and pregnancy, there are a few concerns which are related to the health of the newborn after PGD. But till now, there is no hard evidence proving that the children born using the process are at big risk or any other kind of complications that the children who are born with the help of other reproductive technologies. Different studies also suggested that there are no other major side-effects which are related to PGD.