Preimplantation Genetic Diagnosis (PGD) was developed the late 1980s as an alternative to prenatal diagnosis and possible termination of pregnancy of an affected fetus for at risk couples. Before PGD, genetic disease diagnosis was limited to testing a fetus through amniocentesis and chorionic villus sampling (CVS).
Today, PGD provides a couple with more conclusive information about the health of the fetus. Knowing the genetic health of the fetus provides a couple with the tools to make informed decisions about the path a pregnancy should take.
The Pacific Reproductive Center laboratory, under the leadership of director Zhihong Yang, D.V.M., M.Sc., Ph.D., is proud to offer patients the most advanced genetic testing available today. PRC is among a select group of clinics that work closely with the national’s top genetics labs help patients overcome recurrent pregnancy loss, inheritable genetic diseases, or to achieve family balancing by gender selection.
“We treat each patient as an individual; we do not set strict treatment guidelines; we realize that each woman is unique,” says Dr. Rifaat Salem, founder and medical director of PRC. “We look at each set of individual circumstances with no pre-conceived notions or guidelines. We do not maintain any ‘acceptance conditions.’ Each and every patient will receive the treatment advice that is right for their specific case, whatever it may be.”
What are the Benefits of Genetic Testing?
- The first goal is to produce a healthy baby, and genetic screening tests do so by identifying the abnormal embryos and implant only healthy ones, free of genetic disorders. The second goal is to reduce multiple pregnancies. By being able to identify competent embryos prior to transfer, birth rates per embryo transferred are greatly improved and accordingly allow for the transfer of no more than two “competent,” normal embryos at a time.
- Preimplantation genetic testing allows couples or individuals with serious inherited disorders to decrease the risk of having a child who is affected by the same problem.
- These diagnostic tests are used in conjunction with in vitro fertilization (IVF) and are performed on embryos to assist detection of known genetic diseases or chromosomal abnormalities.
- The testing helps to determine the health of an embryo before it is implanted into the uterus during IVF. This can help to increase the chance of carrying a healthy pregnancy to term.
- PGD is a good alternative to more-traditional prenatal diagnoses because the fetus is tested before pregnancy. In contrast, traditional tests such as amniocentesis (the extraction and testing of a small amount of amniotic fluid from the uterus) are usually performed between the 16th and 20th weeks of pregnancy. The advantage of PGD is that genetic testing occurs before pregnancy, not after, decreasing the likelihood genetic abnormalities.
Most Frequently Diagnosed Diseases and Disorders Detected by PGD:
- Cystic fibrosis
- Sickle cell disease
- Spinal muscular atrophy
- Myotonic dystrophy
- Huntington’s disease
- Charcot-Marie tooth disease
- Fragile X syndrome
- Hemophilia A
- Duchenne muscular dystrophy
Preimplantation Genetic Diagnosis
For women who have experienced recurrent miscarriages, physicians may recommend preimplantation genetic diagnosis (PGD). When testing is used to search for a specific genetic disease known to be present in a family, the test is called Preimplantation Genetic Diagnosis (PGD).
Preimplantation Genetic Screening
When the testing is searching for a number of possible genetic problems that might be present, the test is called Preimplantation Genetic Screening (PGS).