Every year many parents get surprised with the birth of an affected child with genetic disorders. “Genetic disorders are passed on from generations to generations. It runs in the family genes. Genes are very powerful when it comes to the birth of a child” Says Dr. Rajni Khajuria, lab director at Igenomix. Genetic disorders are a growing problem, globally and the recent research conducted by the March of Dimes Birth Defect Foundation states 64.4 out of 1,000 birth defects suffers from genetic disorders.
Knowing your genes is crucial. The slightest negligence may lead to a severe genetic disorder in your newborn. The best option to have a healthy baby in future is to get screened before marriage or before conception. The carriers are usually healthy people, but when both parents are carriers of a mutation in the same gene, the risk of having an affected child is high. This problem of genetic disorders is increasing due to the lack of awareness regarding genetic disorders and tests which can screen them.
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Citing this issue, an advanced Carrier Genetic Test (CGT) that can be done before pregnancy, which can help identify if the baby is going to have the risk of having any of the serious diseases. If identified in advance, steps can be taken to prevent the disease. It is an important genetic test for family planning which can help in determining the percentage of risk involved with the birth of the child. It also helps in identifying if the parents are the carriers of the genetic disorder. The test needs to be conducted in both the members of the couple. In the cases where both partners are found to be carrier of the same recessive gene, they can ask their specialist about the option of Preimplantation Genetic Diagnosis (PGD) to conceive a healthy child.
For example if both partners are carriers of Thalassemia or Thalassemia major or minor themselves, they can conceive a healthy baby through assisted reproductive technologies with the help of IGENOMIX’s Preimplantation Genetic Diagnosis (PGD).
PGD screens the embryos for the genetic mutation which both parents are a carrier of and enables selecting those embryos which are not affected by that genetic disorder. It is indicated for couples with known personal or family history of monogenic disorders such as cystic fibrosis, fragile X syndrome, spinal muscular dystrophies (SMA), Duchenne muscular dystrophy (DMD), Huntington disease, Thalassemia and many more. Even Fertile couples who have a known history of a genetic condition in their families can consider PGD testing. Couples who are already undergoing IVF should consider additional pre-conception screening to identify any genetic disorder which their baby might be at an increased risk of developing.