PRE-IMPLANTATION GENETIC DIAGNOSIS (PGD)
FLOURESCENT IN SITU HYBRIDIZATION (FISH)
Krishna IVF Clinic is a multilingual, state-of-the-art IVF Lab and Fertility Clinic that offers personalised care with latest technology needed to manage infertility & reproductive disorders.
The human body has 23 sets of chromosomes, 22 pairs of autosomes, and the sex chromosomes x and y. These carry the genetic codes called “gene” so it is estimated that there are about 100,000 genes in the human body, each of them coding for a particular protein or trait. Any change in a gene will change in a gene will change the way a protein works, usually for the worse. About 5,000 human genes are known to have mutations serious enough to cause genetic disease. Each cell in the human body contains two copies of every gene. The backup copy usually recognized any gene mistake and repairs it before passing it one of its offspring. Unfortunately, sometimes the cell’s DNA repair mechanisms can fail or the cellular surveillance can become less efficient due to age. The accumulation of gene mistakes results in about 4,000 diseases and disorders, mutated genes are either inherited from parents or acquired spontaneously.
Some of the more common genetic diseases include Cystic Fibrosis, Sickle Cell Anemia, Polycystic Kidney disease, Thalassemia Huntington’s disease, Kieinfelter;s syndrome, x-linked disease mutations (such as Hemophilia and Muscular dystrophy), Tay-sachs disease, Duchenne muscular dystrophy, Alpha-1antitrypsin deficiency, Fagile x syndrome, Lesch-Nyhan syndrome, Retinits pigmentosa, Alloimmune thrombocytopenia, and Rh (D) genotype. These single gene mutations can be tested for using polymerase chain reaction (PCR) technique. In fact, we can now test for 65 different genetically inheritable single gene defect diseases. Aneuploidies (extra or missing sets of chromosomes) may also be examined using the fluorescent in situ hybridization (FISH) technique. Presently, we can test for chromosome numbers 13, 16, 18, 21 and 22 as well as the sex chromosomes x and y.
In addition, there is growing evidence that other diseases, including cancers may be caused by inherited genetic defects that do not cause harm by themselves, but may combine with environmental stressors to produce diseases states.
According to the American society of Reproductive Medicine, an estimated five to eight million couples in the United States are infertile, with approximately two million undergoing infertility treatment. An estimate 60 percent of all in vitro fertilization (IVF) pregnancy losses are associated with chromosomal abnormalities in the embryo. Performing genetic diagnosis prior to embryo implantation could prevent the initiation of abnormal pregnancies in (IVF) patients.