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Pre-Implantation Genetic Testing and Diagnosis (PGD)

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Old 11-28-17, 09:07 AM
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Default Pre-Implantation Genetic Testing and Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD)
This is a highly sophisticated scientific technique to test embryos for specific genetic or chromosomal abnormalities. It helps select embryos unaffected by abnormalities for implantation and pregnancy.

We offer an internationally recognised PGD program that has helped hundreds of couples conceive healthy babies – many after long periods of infertility or with serious genetic diseases in the family.

You may wish to consider PGD if you are concerned about any of the following:
* having a child with an inherited genetic condition
* a known family history of chromosome rearrangement, in either partner
* previous chromosomal abnormality in pregnancy
* advanced maternal age (we usually test for Down syndrome if the mother is 38 or over)
* recurrent miscarriage
* repeated unsuccessful embryo transfers
* terminating a pregnancy affected by chromosomal abnormality.

How does PGD work?
One or two cells are removed from a day-3 embryo and tested for a specific condition, such as cystic fibrosis or down syndrome. Only unaffected embryos, or those free of a specific disorder are transferred in the IVF cycle, which increases the chance of a healthy baby significantly.

Blastomere Biopsy on Day 3 of Culture:
A blastomere is a cell from an embryo. To obtain the blastomere, an opening is made in the shell of the embryo (zona pellucida) during its third day of development when the embryo has 6 to 10 cells. A blastomere is removed by gentle suction. The embryo is placed in an incubator while the cell is sent to a genetics lab for analysis.

Blastocyst Biopsy on Day 5 of Culture:
Blastocysts are embryos that have hundreds of cells that have differentiated into an inner cell mass (that will become the fetus) and the trophectoderm (that will become the placenta). During blastocyst biopsy, a hole is made in the shell of the embryo and several cells are removed from the trophectoderm. The advantages of blastocyst biopsy are that more cells are sampled for a more accurate diagnosis. It is thought to be less stressful to the embryo compared to day 3 embryo biopsy, in which 1/6 to 1/8 of the embryo is removed. In addition, it is now possible to test blastocysts on day 5 and transfer the chromosomally normal ones back to the womb the following day. Extra normal blastocysts can be frozen for future attempts at pregnancy.

We can test for a large number of single-gene disorders, including:
* Huntington's Disease
* Cystic Fibrosis
* Thalassaemia
* Duchenne muscular dystrophy
* Fragile-X
* BRCA1/BRCA2 (hereditary breast / ovarian cancer)
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