Pre-Implantation Genetic Diagnosis (PGD)
PGD has been applied to a wide variety of genetic disorders including diseases caused by an abnormality in a single gene and for diseases caused by abnormalities in the structure or number of chromosomes. Examples of common single gene disorders include cystic fibrosis, Tay Sachs disease and sickle cell anemia. Examples of chromosomal abnormalities include translocations, inversion and deletions of pieces of the chromosomes. Patients with recurrent miscarriages due to chromosomal abnormalities and patient of advanced maternal age can have PGS done to avoid replacing embryos with an unbalanced genetic make-up, thereby lowering their risk of miscarriage and increasing their change of a health baby.
PGD and PGS offers patients who are at risk of having a child with a genetic disease the opportunity to reduce this risk by screening the embryos before pregnancy. If you are interested in learning more about this technology, please call our office to set up a consultation.
Some genetic conditions we have worked with:
• Unexplained Infertility and Recurrent Pregnancy Loss
• Family Balancing (gender selection)
• Balanced translocations causing recurrent pregnancy loss
• Sickle cell anemia
• Cystic fibrosis
• Fragile X
• Hemophilia A
• Posterior urethral valve syndrome
• Agenesis of the corpus callosum/X-linked hydrocephalus
• CADASIL Syndrome
• Y Chromosomal Rearrangement
• Diamond Blackfan anemia
• Fascioscapulohumeral muscular dystrophy
• Van der Woude syndrome
• Primordial Dwarfism
• Huntington’s Chorea
• Myotonic Dystrophy
• Hermansky-Pudlak Syndrome
• Osteogenesis Imperfecta
• Non-syndromic hearing loss, GJB2 related
• Gaucher’s Disease
• Niemann-Pick Disease
• Lynch Syndrome (MSH2)
• Moebius Syndrome
• MODY Diabetes
What is PGD?
Pre-implantation Genetic Diagnosis (PGD) is a procedure in which embryos created through In-vitro fertilization (IVF) are tested for genetic problems prior to being placed into the uterus to establish a pregnancy. This technique has existed since 1990 but it has only recently become readily available to a wide variety of patients. With the increased emphasis on screening potential parents to see if they are carriers for genetic disease, PGD has become an excellent option for patients who test positive and wish to avoid having a child with a specific genetic disorder. Pre-implantation Genetic Screening (PGS) is a related technique that screens embryos for the correct number of chromosomes to lower miscarriage rates and improve the chance of a live birth.
How does PGD work?
The technique of PGD requires undergoing an IVF cycle in which the woman takes fertility medications to make multiple eggs grow. Frequent ultrasounds and blood tests are necessary to monitor the progress of egg development. Using ultrasound guidance under gentle anesthesia, a needle is placed through the vaginal wall into the ovaries to retrieve the eggs. These eggs are then fertilized with the male partner’s sperm by injecting a single sperm into each egg with a procedure called intracytoplasmic sperm injection (ICSI). After fertilization, the fertilized eggs, now called embryos, grow for 3 days in an incubator in the IVF lab. At this point the embryos contain 6 to 8 cells and one or two cells can be removed with a procedure called embryo biopsy without permanently damaging the embryo in most cases. In many cases it is preferable to allow the embryos to grow for 5 or 6 days to the blastocyst stage.
At this point, outer placental cells called trophoblasts can be biopsied, without disrupting the embryo itself. These cells can then be screened to determine if that embryo carries the genetic problem that the couple wishes to avoid. Since there are multiple embryos to choose from, only the embryos without the genetic problem are placed back into the uterus to attempt to establish a pregnancy. The abnormal embryos are discarded. Since only 1-2 embryos are usually transferred back to the uterus, extra normal embryos can be frozen for later use. In cases of blastocyst biopsy on day 5 to 6, all embryos are frozen to await the results of the testing, and the normal embryos are transferred in another cycle. Success rates are generally good because most patients undergoing PGD are not infertile; however, many factors such as the age of the woman and the quality of the sperm can affect the chance of success.
South Jersey PGD/PGS Specialists
The PGD/PGS specialists at South Jersey Fertility Center are highly experienced at helping patients achieve their dream of building a family. We service PGD/PGS and other fertility patients in New Jersey through our offices in Marlton, Burlington, Sewell, and Egg Harbor Township. We are easily accessible to patients in Burlington, Mercer, Atlantic, Camden, Ocean and Bucks Counties.