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Preimplantation Genetic Diagnosis (PGD)
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Preimplantation genetic Diagnosis allows knowing the genetic basis of a hereditary disease, and thus preventing its transmission to offspring. In some cases the alternation is very larger and can be detected by a cytogenetic study (karyotype). Often, the genetic alteration is very small. On a PGD, the use of molecular techniques is necessary to allow the analysis of a single DNA base.

How is PGD performed

The Genetic Material found in the nucleus of our cells (DNA) is studied. The tissue of choice to obtain DNA is generally, blood in order to carry out a cytogenetic study (Karyotype) or to study a specific region of DNA through different test such as Sequencing, Polymerase Chain Reaction, In Situ Hybridization with Flouresence.

Who are condidates for PGD?

Individuals or families who are suspected of showing genetic disease. Often it tends to experience uncertainty when planning to have children.

That is why it is recommended to consult a geneticist, where the main reasons for a consultation are:

Familiy history of hereditary disease or suspected from her. Ex Cystic Fibrosis , Fragile X Syndrome , Diabetes, etc ) ..
Previous child with multiple congenital anomalies , mental retardation or an isolated birth defect ( NTD and cleft palate)
Prenatal diagnosis