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- Preimplantation Genetic Diagnosis - PGD -

Categories of Diseases

Preimplantantion Genetic Diagnosis can be offered for three major categories of diseases: sex linked diseases, molecular disorders, and chromosomal disorders.

In the first category, it can be used to determine the sex of the embryo for sex linked disorders where the specific genetic defect is unknown, variable, or unsuitable for testing on single cells. An example of this group is Duchenne muscular dystrophy.

In the second category, it can be used to identify single gene defects such as cystic fibrosis, where the molecular abnormality is testable with molecular techniques.

The last category includes chromosomal disorders where a variety of chromosomal rearrangements, including translocations, inversions, and chromosome deletions can be detected using Fluorescence In Situ Hybridisation (FISH). Some potential parents who carry a chromosomal rearrangement may have never achieved a viable pregnancy if each previous conception resulted in a chromosomally unbalanced embryo which miscarried spontaneously.

The number of diseases we can diagnose and control the transmission continues to grow. Some diseases we are already able to test. Others are being studied. If you are concerned with any disease in the following link, please contact us to make sure that PGD is available for your case.

List of Diseases


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Copyright 2001 Institute for Reproductive Medicine and Genetic Testing
Last modified: 04/02/04