Preimplantation Genetic Diagnosis (PGD)
Monogenic diseases are genetic disorders caused by a single defective gene that can be inherited from parent or developed ourselves during germ line development. Monogenic diseases are major causes of various problems including birth defect, early mortality and disability and throughly effect to their family both psychological and social issues.
Preimplantation genetic diagnosis (PGD) has been developed for patients at high risk of inheriting a defected gene to their children which includes all monogenic defects (autosomal recessive, autosomal dominant and X-linked disorders).
Therefore, carrier testing of parents through embryonic diagnosis for monogenic disorder before or during pregnancy can help people to have healthy children, and it is an effective way to realised reproductive health of parents to control the prevalence of monogenic disease of the next child.
1. If both parents carry a mutated gene, there is a 1 in 4 chance of their child having the disease.
2. Using a gene disease references of known status, scientists can look at the chromosome in which the gene relies on and determine from which parental chromosome of the DNA originated.
3. The examination of inherited gene, scientists can then determine whether the DNA segment inherited by each embryo and therefore whether it carries the mutated gene or a normal copy using the conventional molecular genetic techniques and sequencing mutated gene by SANGER sequencing and next generation sequencing (NGS).
4. Whether or not the embryo has inherited one copy of the mutated gene as a carrier like its parents or if it has two copies of the mutated gene, that will develop the disease. No copies of the mutated gene, this embryo is likely to be unaffected and a good candidate for transfer into the women’s uterus.
Preimplantation Genetic Diagnosis (PGD) has been performed under the investigation of defected gene both in parent and embryo using high sensitivity, specificity and reliability of molecular genetic technologies including DNA sequencing and next-generation sequencing (NGS) on the target gene regions.
These genetic information provide the direct evidence for the onset of monogenic diseases of parent and prevent the transmitting monogenic disease gene to their offspring.
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