12 September 2019

Hereditary Single Gene Disorders can be prevented in future generations by opting for Preimplantation Genetic Diagnosis

Knowing your genes is crucial. You might not be aware of the genetic information you are carrying but you could possibly be a carrier of a genetic dis...


Knowing your genes is crucial. You might not be aware of the genetic information you are carrying but you could possibly be a carrier of a genetic disorder as everyone is a carrier of 3-5 recessive mutations. If you ignore this, it may lead to a severe genetic disorder in your newborn. You can prevent the transmission of genetic disorders in your to be born child with Preimplantation Genetic Diagnosis (PGD).

PGD helps couples who have an increased risk for a genetic disorder conceive a healthy pregnancy. Following are some FAQ which are generally asked by patients.

What is PGD?

By definition, PGD is the diagnosis of a genetic condition prior to achievement of a pregnancy by checking the embryos to select the unaffected ones. PGD enables a couple to achieve a healthy pregnancy by selecting genetically healthy embryo and have an unaffected offspring.

Who should use PGD testing?

PGD is indicated for couples who have an increased risk for having a child with a single gene disorder. Fertile couples who have a known history of a genetic condition in their families can consider PGD testing. Couples who are already undergoing IVF cycle for infertility can consider additional preconception screening to identify conditions for which they both are the carrier and have risk of passing it to their offspring and then based on that PGD testing could then be considered for testing that condition.

How is PGD done?

To perform PGD testing, a pre PGD workup is required. A unique probe is customized for each couple and used to perform PGD testing on embryos. To build the probe, blood samples from the couple and often from other family members or the affected children are required. Igenomix’ team is made up of the world’s finest experts in the PGD field who are able to design probes for even the rarest and complicated mutations. Igenomix is the first to offer this service in India.  Igenomix uses state of the art technology for PGD and provide quality results for PGD

How can PGD help you?

The goal of PGD testing is to help couples build a healthy family. PGD is done before the pregnancy is established and helps avoid difficult decisions and situations like termination of pregnancy. During the IVF process, PGD can be used to screen embryos for conditions caused by mutations in single genes (monogenic diseases) include beta thalassemia, sickle cell anemia, Duchenne/Becker muscular dystrophy (DMD/BMD), spinal muscular atrophy (SMA), cystic fibrosis (CF), Fragile X disease and many other conditions. Embryos that are not at increased risk for developing the single gene disorder are identified and transferred in mother’s uterus.

To perform PGD for a single gene disorder, is it required to have identified the mutation causing the disease?

In most cases, documentation of the mutation responsible for the disorder is necessary. In some cases, a clinical report with a clear family history can be sufficient.

If PGD testing has been done for a previous cycle, is there still a setup time required for another PGD cycle?

No, there is no pre PGD workup time necessary for subsequent PGD cycles. This is because the same probe that was made for the couple can be used again for any future testing. If a probe has been made for previous PGD testing with Igenomix, we can proceed directly with embryos testing for future PGD cycles.

After the probe has been developed, how soon must IVF be completed?

After the probe has been developed, the IVF cycle and testing of embryos can be completed at the convenience of the patient and the clinic. Once the probe is developed, it can be maintained for the long term.

What are the advantages of PGD testing with Igenomix?

Igenomix’s PGD test Identifies embryos affected with a genetic disease prior to implantation. Igenomix team uses multiple detection approach for PGD testing, which ensures highly reliable results with an accuracy rate of 98-99%.


Know more about PGD

Topics: rare genetic disorders, single gene disorder, genetic mutation, PGD, genetic disorders, genetic testing, history of genetic disorder, preimplantation genetic diagnosis

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