Hereditary Disease

Targeted Mutation Screening  is a diagnostic tool completed through blood test that identifies the mutated gene or genes causing a genetic disease in your family. The identification of a gene mutations allows for further steps to be taken to prevent the passing on of the condition to future generations and may aid in the improvement of treatment of an affected individual. In most cases, after identifying the cause of genetic disease the couples can go with a Pre-Implantation Genetic Diagnosis (PGD) for Single Gene Disorders, a genetic test that allows for your embryos to be screened for the genetic disease affecting your family, before pregnancy.

What is carrier screening?

It is normal to be a carrier for a handful of genetic disease without it impacting your daily life. In fact, most individuals are carriers for genetic disease despite no history of disease within their family. What is important to know, is if you are your partner or future spouse are carriers for the same genetic disease. When two people are carriers of the same disease, they can unknowingly have a child that is affected by a genetic condition. Learning about which genetic disease you are a carrier for before pregnancy allows you to take steps to plan for your future family.

Genetic diseases differ in the way that they can be inherited. Carrier screening is performed for genetic diseases that are inherited in an Autosomal Recessive or X-linked manner. Your chance of passing on a condition to your child depends on your carrier status, the carrier status of your partner as well as the mode of inheritance for each specific disease.

Autosomal Recessive

The majority of the conditions included in Carrier Screening are inherited in an autosomal recessive pattern. This means that the disease is equally found in males and females and that it must be inherited from both parents in order for future generations to be affected. An individual that is a carrier of an autosomal recessive disease inherited one disease-causing copy of the gene and one health copy of the gene from their parents. If two individuals are carriers for the same autosomal recessive disease, they have a 25% chance of both passing on a disease-causing copy of the gene to their child.

X-Linked Inheritance

X-linked conditions are inherited exclusively from mother to child and are more often seen in males than in females. X-linked disease are caused by mutations found on the X chromosome. Because males (XY) only have one X chromosome, if they inherit a disease-causing copy of the X chromosome from their mothers, they are more greatly affected than females (XX). This is because males (XY) receive no compensation of the affected traits from another X chromosome. In order for a male to be affected by an X-linked condition, they must receive only one disease-causing copy. If the female partner is a carrier of an X-linked genetic disease, the couple's chance of having an affected male child is 50%.

Whole Exome Sequencing

Whole Exome Sequencing is a diagnostic tool completed through blood test that identifies the mutated gene or genes causing a genetic disease in your family. The identification of a gene mutations allows for further steps to be taken to prevent the passing on of the condition to future generations and may aid in the improvement of treatment of an affected individual. In most cases, after identifying the cause of genetic disease the couples can go with a Pre-Implantation Genetic Diagnosis (PGD) for Single Gene Disorders, a genetic test that allows for your embryos to be screened for the genetic disease affecting your family, before pregnancy.

Mitochondrial DNA Testing

Mitochondrial activity screening is performed using the same biopsy sample used for preimplantation genetic screening (PGS).  The embryos do not need to be exposed to any interventions apart from those already associated with routine chromosomal screening associated with genetic screening.
The possible advantages of mitochondrial activity screening are the following:
•    increased implantation and pregnancy rate after IVF/PGS
•    reduction in the number of multiple gestations when one embryo is selected for transfer
•    additional information on embryo health in addition to morphological observations and genetic screening
 

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