14 December 2017

Preimplantation Genetic Diagnosis for single gene disorders: overview and emerging issues

According to World Health Organisation (WHO) report, one in every 300 is a carrier of thalassemia.The global prevalence of single gene disorders is 10...


According to World Health Organisation (WHO) report, one in every 300 is a carrier of thalassemia.The global prevalence of single gene disorders is 10 in every 1,000 live births infants. As per current estimates from WHO over 10,000 of human diseases are known to be single genes disorders. The nature of these disorders depends on the functions performed by the modified gene.

Why one should get screened for genetic disorders?

It is need of the hour for couples to get themselves screened as if both partners are found to be carriers of the same genetic mutation, there are 25% chances that their child will be affected with that genetic disorder.

What is Preimplantation Genetic Diagnosis for single gene disorders (PGD-SGD)?

PGD-SGD for is a powerful genetic test to detect single gene disorders in the embryo before implantation in an IVF pregnancy. The test is performed during an IVF cycle; it screens and selects embryos that do not carry the genetic mutation and thus the genetic disorder. On the basis of this test, a decision can be taken about which embryos should be transferred.

Who should opt for PGD-SGD?

PGD-SGD is indicated for couples who have increased risk of having a child with a single gene disorder.Main goal of PGD is to prevent transmission of single gene disorders that cause serious illnesses to future generations. The couple who should consider PGD-SGD:

  • Couples with personal or family history of high risk for single gene disorders.
  • Fertile couples who have a known history of a genetic condition in their families can consider PGD testing after getting themselves checked to know if they are at risk of passing the disease to future generation

When it comes to starting a family, one has to be extra careful. The IVF processes can be long and challenging. Everybody wants to get it right.

Ensure your pregnancies with PGD now!

Topics: genetic disorder, single gene disorder, genetic mutation, PGD, genes, genetic disorders, genetic testing, genetic lab, genetic screening

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