How can PGD help me?
The aim of Preimplantation Genetic Diagnosis 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.
Preimplantation Genetic Diagnosis (PGD) is used to diagnose genetic conditions with embryos prior to their transfer to the uterus. In other words, PGD can only be performed with IVF-based methods.
PGD and PGS…..PGD or PGS
What is it? Why would you do? When and where is it done?
It is generally accepted that there are some differences between the two terms. These differences relate only to the clinical situationwhen the applied or recommended genetic diagnosis of the embryo. Technical and methodical implementation of techniques is done by the same method.
Preimplantation Genetic Screening (PGS) is performed with embryos in IVF cycles before they are transferred in the uterus. PGS helps to prevent transfer of embryos with abnormal number of chromosomes. Data obtained in leading IVF clinics in Europe and the USA demonstrate that using PGS in IVF cycles increases the rate of successful embryo implantation. In our Clinic we use FISH method to detect chromosomal abnormalities.
As for the term “PGD” he increasingly used in situations where we (the doctors who treated you) already know about the problem thatcan occur in embryos. This is a monogenic disease or carriers of certain types of chromosomal abnormalities which patients themselves inform a doctor.
Many couples request PGD for aneuploidy such as Down syndrome, trisomy 18, trisomy 13 and Turner syndrome. These disorders do not typically run in families. However, up to 65% of early miscarriages are due to aneuploidy, and the risk for aneuploidy increases with a woman,s age.
For individuals who carry a chromosomal translocation, PGD can be used to test eggs or embryos for their specific translocation. This greatly decreases the risk for miscarriage and/or the birth of a child with birth defects and mental retardation associated with an unbalanced chromosome translocation.
How can PGD help me?
PGD can significantly reducethe chances for our baby to be affected with a specific genetic condition or chromosomal abnormality. Weare able to test form any different diseases, including aneuploidy, single gene disorders and chromosome translocations.
Indicationsfor PGD or PGS:
- Woman'sagemore than 37years;
- Severemaleinfertility;
- Multipleimplantationfailures;
- Repeated miscarriages;
- Sexselection, includingthepresenceof a sex-relateddiseases;
- Balancedchromosomaltranslocation.
"Academic clinic" offers the following services:
- PGS (screening) of 9 pairs of chromosomes (13, 14,15, 16, 18, 21,22, X, Y);
- Sex selection (exam of 21, X, Y);
- PGD for balancedt ranslocation carriers;
Reasons for using PGD
Embryos can be analyzed for one or more of the following:
- Aneuploidy - A condition in which there is an extra or missing chromosome. An example of aneuploidy is Down Syndrome, trisomy 18, trisomy 13 and Turner syndrome.. There is an increased incidence of aneuploidy as women age.
- Gender -The determination of whether an embryo is male or female. This is a very accurate way for patients to have a boy or a girl through family balancing.
- Translocations - A change in chromosome structure in which chromosomes are attached to each other or pieces of different chromosomes have been interchanged.
- Single Gene Disorders - Disorders or diseases caused by the inheritance of a single mutated gene. Diseases such as Cystic Fibrosis, Tay Sachs, Alpha and Beta Thalassemia and Sickle Cell Anemia are examples of a mutated gene.
Reproductive medicine has been using PGD methods for almost 20 years – the first report on a birth of a healthy child after IVF with PGD was published in 1990. PGD methods are rapidly developing, thus providing new opportunities to avoid a transfer of embryos with a genetic condition and birth of children with congenital and hereditary diseases
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