Gene Disorders & Chromosomal Rearrangements

What is PregaSight PGD?

PGD is a preimplantation genetic test that is designed to screen embryos for inherited genetic disorders. For couples with a family history of an inherited disease, the customized test detects specific monogenic/single gene defects and chromosomal structural rearrangements (in embryos. By checking for these abnormalities, PGD helps your IVF team select a healthy embryo for transfer.

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Monogenic/Single Gene Disorders

While conditions like autism and cancer are the result of variants in a complex network of genes, many inherited disorders are typically caused by mutations in a single gene. Although these single gene disorders are relatively rare in the general population, certain factors put some individuals at higher risk of inheriting and passing down these conditions. 

In some cases, family history of a genetic disease increases the likelihood of a couple having an affected child. Parents may not be aware of their carrier status prior to genetic testing because they are asymptomatic. However, if you find you are a carrier of a genetic condition, there are options open to you. Preimplantation genetic testing with PGD Insight  is an important step in your IVF process that allows you to screen the embryo for a specific genetic condition prior to implantation.


Our DNA is contained in structures called chromosomes. The number of chromosomes an individual possesses is visualized as a karyotype. Translocations are chromosomal structural changes that occur during cell division. There are two types of translocations that have unique clinical outcomes: balanced and unbalanced.

A balanced translocation – also known as a reciprocal translocation – is an equal exchange of segments between two chromosomes with no loss or gain of DNA. Individuals with balanced translocations are sometimes called translocation carriers; they frequently live without health complications, although some experience fertility problems later in life.

Unbalanced translocations are events where chromosomes do not exchange segments equally and therefore result in loss or gain of DNA. It is common for a reciprocal translocation carrier to produce a high number of embryos with unbalanced translocations. Embryos with unbalanced translocations are typically unstable and result in miscarriage or a newborn with a developmental disorder. Translocations can also result in various types of cancer including Ewing’s sarcoma and some forms of leukemia.

Why PGD?

Evaluate your family history risk

If a single gene disorder runs in your family, you can learn your child’s risk of inheriting the condition before implantation through PGD.

Assess unexplained infertility

Chromosomal structural rearrangements may explain recurrent miscarriages. Screen the embryo for these abnormalities prior to transfer using our PGD.

Select healthy embryo for transfer

Your results can help your physician select an embryo that is free of an inherited genetic defect or unbalanced rearrangement, increasing your chance of achieving a healthy pregnancy.

Project Design/Advice Assistance

Our PregaSight services are performed by a group of specially trained and experienced scientists in a streamlined workflow under the supervision of a qualified clinician. Please contact our technical support or genetic counselling team with details of your requirement or any questions you many have.