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what is pgd

What is Preimplantation Genetic Diagnosis
IHR provides one of the most experienced and successful IVF services with preimplantation genetic diagnosis in the world.

Developed in the early 1990's, and with the improved genetic tests techniques in the last decade, preimplantation genetic diagnosis (PGD) is now a medical treatment for couples to prevent a pregnancy affected by a genetic condition or chromosomal disorder. There are various types of PGD available, depending on the needs of the individual couple. This form of genetic testing is performed on eggs or embryos during an in vitro fertilization (IVF) cycle. In addition to hundreds of IVF/ICSI treatment cycles performed annually for infertility, Dr. Tur-Kaspa, IHR’s Medical Director, conducted personally more than 1000 IVF-PGD cycles in the last few years for patients with over 50 different single gene genetic disorders (such as Cystic Fibrosis, Fragile-X syndrome, Muscular Dystrophy, Thalassemia, Sickle cell anemia, Huntington disease, and Hereditary cancer predisposition genes), chromosomal translocations, for HLA matched child, and for aneuploidy. Currently, we are able to perform PGD for almost any known genetic conditions including single gene disorders and/or for chromosomal abnormalities. IHR collaborate with the Reproductive Genetic Institute, a word known Chicago based PGD laboratory. Biopsy for PGD, especially if performed at experienced centers of the polar bodies (small particles with the genetic mirror image of the egg) or trophectoderm biopsy on day 5-6 at the blastocyst stage (embryo with 70-80 cells), seems to have no significant short-term or long-term impact and may be used safely for embryo biopsy without notably reducing the pregnancy and delivery rate. Biopsy on day 3 embryos (6-8 cells) is now consider less optimal and usually would be ordered by IHR physicians for specific indication (such as confirmation of inconclusive polar bodies’ results or for translocation testing with conversion to distinguish between normal and balanced embryo). The eggs or embryos that have been analyzed and are found to be normal are transferred into the woman's uterus, where, hopefully, they will implant and result in the birth of a healthy child. IHR's expertise in preimplantation genetic diagnosis lies in our willingness and ability to individualize our approach to best suit each and every one of our patients. If you have any questions as you review the material on preimplantation genetic diagnosis, please contact us for a FREE Preimplantation Genetic Diagnosis E-Mail Consultation.

Currently, we are able to offer PGD for almost any known genetic conditions including single gene disorders and chromosomal abnormalities. At the Institute for Human Reproduction, we have been providing a very successful IVF with and for PGD for over a decade now.

PGD can significantly reduce the chances for a baby to be affected with a specific genetic condition or chromosomal abnormality. We are able to test for many different diseases, including aneuploidy conditions, single gene disorders, and chromosome translocations.

Preimplantation genetic screening (PGS) refers to techniques where embryos from presumed chromosomally normal genetic parents are screened for chromosomal abnormalities (aneuploidy conditions). Many couples request PGD for aneuploidy, such as Down syndrome, trisomy 18, trisomy 13, and Marfan syndrome. Aneuploidy conditions typically do not run in families. However, 60-80% of early miscarriages are due to aneuploidy conditions, and the risk for aneuploidy increases with a woman's age. The purpose of PGS for aneuploidy is to increase a couple's chance for pregnancy, reduce their risk for miscarriage, and improve their overall chance of bringing home a healthy baby after in vitro fertilization.

PGD has been successfully performed for autosomal recessive conditions (such as spinal muscular atrophy); autosomal dominant (myotonic dystrophy, Huntington disease), X-linked disorders (Fragile X syndrome and Duchenne muscular dystrophy), and also for familial Alzheimer’s disease, mitochondrial disorders, familial spongiform encephalopathy due to prion disease, and for cancer predispositions genes with high penetrance including for colon cancer, hereditary breast and ovarian cancer (BRCA 1 and 2) neurofibromatosis, von Hippel-Lindau and retinoblastoma. Our center has extensive experience testing for HLA typing for a matched baby to save a sick sibling and for many single gene disorders, including rare genetic syndromes.

IHR has treatments for a variety of infertility conditions, including unexplained infertility, ovulatory dysfunctions, endometriosis, immunological infertility and many others. Perhaps less known is our work with individuals and couples who are considering assisted reproduction, but who are uncertain of their next step. We encourage anyone, before they make a decision, to consult with us. Currently, we are offering a FREE Preimplantation Genetic Diagnosis E-Mail Consultation.