Genetic testing relates to testing of the genetic makeup of cells in a fertilized embryo.
Within an IVF treatment, genetic testing is an essential but complex procedure that ensures the birth of a healthy normal child. Most gynaecologists recommend it to women who are above 35 years and are undergoing an IVF cycle. The other reasons include the history of recurring failure in IVF cycles or miscarriages or their previous children have been born with genetic disorders.
Dr Hrishikesh Pai, one of the leading IVF doctors with multiple IVF centres in Mumbai and India, states, ‘We as IVF specialists, have to consider multiple factors at a comprehensive level before implanting a fertilized and a healthy embryo for a successful IVF cycle and pregnancy. It is genetic testing that majorly helps us determine the pregnancy’s success rate and the birth of a normal and healthy child.’
Dr. Pai’s expertise in ART technology has made it possible for many infertile couples to realize their dreams of becoming parents. His core expertise lies in fertility preservation for cancer patients and pregnancy with own eggs and sperms, and treating cases with a history of recurring IVF failures.
For those wondering about the emphasis on genetic testing, Dr. Hrishikesh Pai is a very experienced IVF doctor in Mumbai and India who offers a multipronged response to it. He states, ‘Genes play a crucial role in the birth of the child. Genes are related to certain characteristics and abilities that are likely to be transferred from the parent to the child. Hence, by genetic testing of the embryo, we can check whether either of the two or both the parents are carriers of genetic disorders or not. We then implant the healthiest embryos in the uterus based on the results of the genetic test for a seamless pregnancy and the birth of a healthy and normal child.’
It is a known fact that there is no full or wholesome cure as such for most genetic disorders. Once a child is born with a genetic disorder, the parents have to learn how to deal with the child and manage his health and mental issues differently altogether for a very long time. It becomes a stressful journey that requires unconditional love and boundless patience. Hence it is advisable to go ahead with the IVF specialist’s suggestion of genetic testing of the embryo.
What is Genetic testing?
Genetic testing relates to testing of the genetic makeup of cells in a fertilized embryo. Some cells are taken from the fertilized embryo on the 5th or the 6th, or the 7th day of fertilization for testing purposes. The results can take anywhere between 10–14 days to arrive.
Only the normal and healthy embryos are transferred into the uterus for a successful pregnancy.
Factors that determine the health of an embryo
A healthy embryo has 23 complete chromosomes, while an unhealthy embryo will have more or fewer chromosomes. Also, an embryo may be screened or tested for a specific genetic condition such as spinal muscular atrophy, cystic fibrosis, and breast cancer, to name a few.
There are many genetic testing options available. Most IVF doctors recommend –
- Preimplantation Genetic Screening – PGS can detect genetic diseases caused by chromosome number abnormalities such as Down syndrome, Turner syndrome, Klinefelter syndrome, etc.
- Preimplantation Genetic Diagnosis – PGD is suggested to patients with a history of specific genetic diseases, mostly for breast cancer genes, spinal muscular atrophy, and cystic fibrosis.
Similarly, most IVF specialists suggest the Fragile X test on couples who have a history of intellectual or developmental disabilities or miscarriages, or infertility in the family. A pathogenic genetic variant causes this syndrome. It affects males more than females. Individuals with Fragile X syndrome are also diagnosed with autism spectrum disorder (ASD) and are likely to have cognitive and behavioural issues, learning disabilities, and developmental delays.
Embryo genetic testing is a must for patients undergoing an IVF cycle, especially if they are 35 years of age and/or have a history of recurring miscarriages or having an earlier child suffering from a genetic disorder. It is preferable to check whether both or any one of the partner is a carrier of defective genes. There are also instances when the couple goes ahead with genetic testing to ensure the transfer of the healthiest embryo in the uterus.
Dr Hrishikesh Pai is also the founder of Bloom IVF Group with centres in Mumbai, Navi Mumbai, New Delhi, Gurugram, Mohali Chandigarh and Nashik; and performed thousands of IVF/ICSI cycles in the past 30 years.