Genetic Disorders and how IVF can help You Conceive a Healthy Baby

Francisco Rodriguez, Business Head, Igenomix IndiaEvery year, the dreams of many parents are shattered when they see their baby is born with serious genetic disorder. Genetic disorders are a growing problem, not only in India, but globally. As per World Health Organization (WHO) 10 in every 1,000 live births suffer from a genetic disorder. Genetic disorders are inherited and cannot be cured. They can only be prevented. A research by Igenomix states that about 90 percent of the population is a carrier of at least one genetic mutation which can pose a serious risk of genetic disorders in their child. And about 20 percent of couples in cases of consanguineous marriages are at a high risk of passing on a genetic disorder to their child. Lack of awareness of the parents has caused many children to be born with genetic disorders. You may be a carrier of a serious genetic disorder like Thalassemia without even knowing about it. Being a carrier does not mean you will develop the illness. Carriers are otherwise healthy people who may or may not have a known family history of genetic disorders.

If both partners are carriers of the same genetic mutation the chances of having a child affected with that genetic disorder is as high as 25 percent. Does that mean the carriers in this case cannot have a healthy baby? NO! Couples who are carriers of the same genetic mutation can conceive a healthy. Artificial reproductive technologies-IVF (in-vitro fertilization) combined with reproductive genetic techniques such as Preimplantation Genetic Diagnosis (PGD) which enable couples like these to conceive a healthy baby. There can be two kinds’ cases- those who know they are carriers and those who don't. Couples who are unaware of their
genetic history are first recommended to go for a Carrier Genetic Test (CGT) before planning the pregnancy. Screening for genetic disorders is the first step. Carriers have a tendency to transfer the genetic mutation to their offspring. Carrier screening helps in identifying the genetic mutation that can lead to a genetic disorder in the child. Couples identified with a high risk of transmitting genetic disorders to their child should then consult with their specialist about how they can conceive a healthy baby with Preimplantation Genetic Diagnosis (PGD) by opting for IVF.

Pre-implantation genetic screening (PGS) for aneuploidy is a powerful genetic test that may be performed on embryos during IVF treatment to screen for numerical chromosomal abnormalities

Those who are already aware they are carriers can consult genetic counsellors at Igenomix or the doctor they are consulting to understand their risk and how PGD can help them conceive a healthy baby. PGD can only be employed in an IVF pregnancy. During IVF egg and sperm are fertilized externally and then implanted in the womb. PGD testing is performed after an egg is fertilized in vitro, but before the resulting embryo is transferred to the womb of the mother. The testing makes it possible for prospective parents to select healthy embryos before a pregnancy is established. PGD is also recommended for people going through an IVF process to conceive since they are unable to conceive naturally. IVF processes often fail. Pre-implantation genetic screening (PGS) for aneuploidy is a powerful genetic test that may be performed on embryos during IVF treatment to screen for numerical chromosomal abnormalities. MitoScore on the other hand allows us to select those embryos which have the greatest probabilities for implantation, therefore more likely to result in a viable pregnancy through IVF. As per research by Igenomix- 50 percent of the NORMAL embryos identified after PGD are AFFECTED by Chromosomal Abnormalities. Employing PGD and PGS together ensures ongoing pregnancy rate of 42.9 percent in IVF.

Usually parents do not pay much attention to genetic disorders. This lack of awareness and ignorance has caused many children to be born with genetic disorders. It may come as a shock to the parents because they are mostly unaware that they are the carriers of genetic disorders and leave them with a lifelong guilt. Genetic disorder is one of the principle reasons for causing mortality in infants. Genetic disorders induce approximately 20 percent of the infant mortality rates in developed countries. Genetic disorders may cause psychological, physical, financial and mental grief to the family. Since we have no cure for these life limiting and threatening disorders, we have no other means of curbing such diseases other than seeking preventive methods.