Preimplantation Genetic Diagnosis (PGD)
Preimplantation Genetic Diagnosis (PGD) / Aneuploidy Screening
Preimplantation Genetic Diagnosis (PGD) is a state of the art procedure used in conjunction with in-vitro fertilization to help select embryos free of chromosomal abnormalities and specific genetic disorders for transfer into the uterus. Indications for PGD include recurrent miscarriage, advanced maternal age, and inherited genetic disorders.
How does PGD/AS work?
For patients who are at high risk of having offspring with chromosomal or genetic abnormalities, they may elect to undergo PGD/AS. PGD/AS can only be performed as part of an in vitro fertilization(IVF) cycle. When embryos are created during IVF and reach a particular stage of development, they can be biopsied. The biopsy consists of the removal of one cell from the embryo so that this cell can be tested. The embryo remains in culture to grow while testing is performed on the single cell. Typically, two days later, the results are available, and the unaffected embryos are then selected to be transferred back to the uterus.
What types of genetic or chromosomal testing can be done on embryos?
There are currently several hundred single genes that can be tested depending on the gene of interest. Examples of such genetic mutations include cystic fibrosis and muscular dystrophy.
In a normal embryo, there are 23 pairs of chromosomes, either 46XX or 46XY. As women age, the risk of having chromosomal abnormalities in the embryo increases. One of the most common abnormalities is Down's syndrome, a condition having 47 chromosomes including an extra chromosome 21. The current technology allows us to evaluate an embryo and confirm that there is a normal number of chromosomes prior to placing it back into the uterus. Miscarriage rates are thereby lowered due to the transferring of genetically normal embryos.
Is there an additional charge for PGD/AS?
Although the biopsy is performed at our center, the testing of the single cell is performed elsewhere at a special laboratory. The outside laboratory does charge an additional fee for their services and this fee varies depending on the type of testing being performed.
Preimplantation Genetic Diagnosis (PGD) is a state of the art procedure used in conjunction with in-vitro fertilization to help select embryos free of chromosomal abnormalities and specific genetic disorders for transfer into the uterus. Indications for PGD include recurrent miscarriage, advanced maternal age, and inherited genetic disorders.
How does PGD/AS work?
For patients who are at high risk of having offspring with chromosomal or genetic abnormalities, they may elect to undergo PGD/AS. PGD/AS can only be performed as part of an in vitro fertilization(IVF) cycle. When embryos are created during IVF and reach a particular stage of development, they can be biopsied. The biopsy consists of the removal of one cell from the embryo so that this cell can be tested. The embryo remains in culture to grow while testing is performed on the single cell. Typically, two days later, the results are available, and the unaffected embryos are then selected to be transferred back to the uterus.
What types of genetic or chromosomal testing can be done on embryos?
There are currently several hundred single genes that can be tested depending on the gene of interest. Examples of such genetic mutations include cystic fibrosis and muscular dystrophy.
In a normal embryo, there are 23 pairs of chromosomes, either 46XX or 46XY. As women age, the risk of having chromosomal abnormalities in the embryo increases. One of the most common abnormalities is Down's syndrome, a condition having 47 chromosomes including an extra chromosome 21. The current technology allows us to evaluate an embryo and confirm that there is a normal number of chromosomes prior to placing it back into the uterus. Miscarriage rates are thereby lowered due to the transferring of genetically normal embryos.
Is there an additional charge for PGD/AS?
Although the biopsy is performed at our center, the testing of the single cell is performed elsewhere at a special laboratory. The outside laboratory does charge an additional fee for their services and this fee varies depending on the type of testing being performed.