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All couples hope to have a healthy baby. For some couples at risk for passing on a severe genetic disorder, this wish is particularly urgent. Fortunately, if you know that you carry a gene for a serious illness, we may be able to screen for the gene and help reduce or eliminate the risk of your offspring being affected with the illness.
In the past, couples with genetic disorders were only able diagnose the health of their unborn child by amniocentesis. Amniocentesis is performed during the second trimester of pregnancy. Consequently couples faced having to decide whether they would end an established pregnancy. We are now able to offer Pre-Implantation Genetic Diagnosis PGD for couples who carry the genes for serious inherited disorders.
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Why PGD? |
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This is a sophisticated screening process that enables doctors to evaluate the embryos of couples who carry the genetic markers for certain inherited disorders so that only healthy embryos are selected to be transferred to the woman’s uterus.
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What does PGD involve? |
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PGD involves an IVF procedure where the woman’s eggs are fertilized outside her body in the laboratory. We then biopsy a single cell from three-day-old embryos and transport them overnight to a specialized molecular genetics lab in the USA. The cells are screened for the specific genetic marker using a polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH). The screening indicates which embryos are healthy, and, from these, we select the embryos to transfer on day five.
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Important points to know about PGD |
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PGD is a complex and expensive process that requires couples to undergo an IVF/ICSI cycle which they may not otherwise need.
The process is generally only suitable for couples who find standard prenatal testing and mid-trimester pregnancy termination unacceptable.
There is also a small risk that there will be no surviving, unaffected embryos for transfer. |
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