Pre-Implantation Genetic Diagnosis (PGD)

PGD for Chromosomal Translocations:

Preimplantation Genetic Diagnosis (PGD) – done on embryos created after IVF wherein the genetic diagnosis of known problem has been diagnosed in either of the partner. For example: balanced translocations /inversions. Either of the partner can be a carrier of any balanced translocation or inversion .These translocations account for the early pregnancy losses in many couples who are suspected carriers.

In about 5% of couples with more than one miscarriage, one person is found to have a balanced chromosomal rearrangement. Carriers of balanced chromosomal rearrangements are usually perfectly healthy and unaware that they have a balanced chromosomal rearrangement. However, more than 70% of pregnancies in couples where at least one parent carries a balanced chromosomal rearrangement will result in miscarriage while up to 10% may result in a chromosomally abnormal live birth. This is due to a resulting unbalanced chromosomal rearrangement developing in the embryos. Balanced chromosomal rearrangements can easily be identified in the couple through a simple test called karyotyping . A Robertsonian translocation is a rare form of chromosomal rearrangement that occurs in five chromosomes pairs known as acrocentric, namely chromosomes 13, 14, 15, 21 and 22.

A balanced chromosomal rearrangement is when all of the genetic information is present in the correct amount but it is in the wrong location or in a different order. Chromosomal rearrangements may occur during egg, sperm or embryo development. Balanced chromosomal rearrangements exist as either translocations or inversions.

Pre-Implantation Genetic Diagnosis (PGD) for single gene disorders :

Argenomics has the credibility of testing single gene disorders on embryos for the first time in INDIA. we have dealt with many autosomal recessive conditions, autosomal dominant and X linked disorders. Single gene disorder is genetic abnormality condition wherein both parents can be carriers of a faulty gene, or at time one of the parent can be a carrier and can pass the faulty gene to their offspring.

Genetic diseases differ in their modes of inheritance – Argenomics can help you prevent the passing on of the condition to your children regardless of inheritance mode.
Single gene disorders are relatively common. Examples of single gene disorders include:

•    Thalassemia
•    Sickle Cell Anaemia
•    Hemophilia
•    Spinal Muscular Atrophy
•    Inborn errors of metabolism