Download PGS for unbalanced rearrangment screening

 PGS for unbalanced rearrangment screening 1. What is PGS for unbalanced rearrangement screening? Preimplantation genetic screening (PGS) for unbalanced rearrangement screening is a powerful genetic test that may be performed on embryos during IVF treatment to screen for unbalanced rearrangements including translocations and inversions. PGS is performed on a small embryo biopsy prior to transfer and identifies which embryos are chromosomally normal. Chromosomally normal embryos are the most likely to develop to term and to be born as a healthy baby. PGS testing helps IVF physicians and patients decide which embryos to transfer. Two types of chromosomal rearrangements are translocations (including reciprocal and Robertsonian) and inversions. An individual with an inversion has a piece of a chromosome that has been flipped within the chromosome. A translocation is when there has been an exchange of genetic material between different chromosomes. Chromosomal rearrangements are considered “balanced” when there is a normal amount of genetic material and “unbalanced” when there is extra or missing chromosomal material. Someone with a balanced rearrangement (a carrier) usually has no health or developmental problems, although they may sometimes have difficulties building a family. The offspring of a carrier of balanced rearrangement can inherit an unbalanced rearrangement, which may lead to failed implantation of an embryo, a miscarriage during pregnancy, or a child being born with mental and physical problems. An offspring that inherits the balanced rearrangement should not have any health problems caused by the rearrangement. PGS for unbalanced rearrangement screening also includes the benefits of PGS for aneuploidy screening. PGS for aneuploidy screening includes comprehensive analysis of all 24 chromosome types: the two sex chromosomes (X and Y) and the 22 other non‐sex chromosomes. Normally there are 23 pairs of chromosomes in each human cell. A numerical change in the number of chromosomes is called aneuploidy. Aneuploidy is responsible for the vast majority of spontaneous miscarriages and can result in birth defects and mental retardation in live born babies. Most types of aneuploidy are not compatible with life. The most common syndromes caused by non‐sex chromosome aneuploidies are Down syndrome, Edwards syndrome, and Patau syndrome. Aneuploidy is usually not inherited and can involve any chromosome; however, the likelihood of embryos to be aneuploid increases with the age of the mother. More information: IviGen uses array CGH (comparative genomic hybridization) technology to perform PGS for unbalanced rearrangement screening. Our team works with BlueGnome’s 24sure or 24sure+ BAC‐based arrays. This technology is specially developed for analysis of only a few cells or even a single cell as is required for preimplantation genetic testing. Validation studies have been performed in our laboratory to optimize DNA quality and amplification. PGS testing with array CGH is 98‐99% accurate. PGS for unbalanced rearrangement screening assesses genetic imbalances but cannot distinguish between normal chromosomes and a balanced rearrangement. If an embryo inherits a balanced rearrangement like the parent, normal growth and development would be expected. 2. What are the benefits of PGS for unbalanced rearrangement screening? The majority of abnormal embryos are indistinguishable from normal embryos when studied using a microscope. Therefore, normal embryo appearance cannot be used to evaluate for chromosome abnormalities. Embryos that have an unbalanced rearrangement can have a range of abnormalities leading to implantation failure, miscarriage, or birth defects. The impact of the unbalanced rearrangement can sometimes be difficult to predict, but the family history can provide valuable information. The main benefits of PGS for chromosome abnormalities include increase in implantation rate, reduction in miscarriage rate, and increase in the chance of delivering a healthy baby. 3. Who should use PGS for unbalanced rearrangement screening? Unbalanced rearrangement screening is appropriate for individuals who are carriers of a previously identified balanced translocation or inversion. Risk factors for being a carrier of a balanced translocation or inversion include unexplained male‐factor infertility, multiple miscarriages, and a family history of birth defects. Identifying embryos that have inherited an unbalanced rearrangement can help patients and doctors make informed decisions about which embryos to transfer. 4. What are the advantages of PGS testing with IviGen? 
Comprehensive analysis of all 24 chromosomes 
Robust and reliable technology using BlueGnome’s cutting‐edge 24sure arrays (aCGH) 
Ability to do Day 3 biopsy with results in time for fresh transfer on Day 5, or a Day 5 biopsy with results in time for fresh transfer on Day 6 
Experienced genetic counselors certified with the American Board of Genetic Counseling 
Senior team who analyze results for every embryo along with double signature on all result reports 
Banking/batching program for low responders 
Proprietary embryo biopsy buffer formulated to maximize DNA amplification and prevent cell lysis 
Extremely flexible with every case. We understand each patient is unique 
Customizable reports to include or mask chromosomes to the desires of the patient 
24/7 phone service with Laboratory Director or Manager 
On‐site Training of embryologists available 
No additional blood tests prior to the IVF cycle for PGS cases 
No additional charge for egg or sperm donor cases Guaranteed outstanding customer service 
5. Genetic counseling It is recommended that you have a consultation with a genetic counselor. The genetic counselor will describe the benefits and risks of PGS as well as answer any additional questions. This consultation can be arranged by calling customer service at (305) 501‐4948 or an IviGen genetic counselor at (786) 510‐9582, or can be arranged by your IVF clinic. Please call at least 3 business days prior to your biopsy date to schedule the appointment. You may also request a consultation to review the results after the testing has been completed. 4. FAQ's Is it PGD or PGS? Preimplantation Genetic Diagnosis (PGD) is the name of the genetic testing that is done on embryos when there is a concern for a specific condition. Having a balanced rearrangement represents a specific indication to do testing, and so many health care providers will use the term PGD. At IviGen, we use a different technology to screen for unbalanced rearrangements than we use to screen for single gene disorders (such as cystic fibrosis or Fragile X disease). Screening for unbalanced rearrangements and screening for aneuploidy involves a similar type of technology (both use array CGH). Therefore at IviGen, we use the term PGS for aneuploidy and unbalanced rearrangement screening, and we use the term PGD for single gene disorder testing. What is embryo biopsy? Is the embryo damaged during the biopsy? Embryo biopsy is the removal of one or just a few cells from the embryo (depending on the stage of development). If the embryo is handled correctly by a skillful embryologist, the embryo develops normally after embryo biopsy. Published studies demonstrate that there is no increased rate of birth defects in IVF babies that are born after biopsy compared to IVF babies that are born without embryo biopsy. Can biopsy be done on day 3 or blastocyst stage (day 5)? IviGen can perform PGS testing on embryos that are biopsied at either day 3 or day 5. A 3 day old embryo has approximately 8 cells, and so only a single cell is removed for a biopsy done at day 3. A 5 day old embryo has a few hundred cells, and so several cells can be safely removed during the biopsy. There are several good reasons to do either a day 3 or a day 5 biopsy. The number of cells that can be safely removed, rates of mosaicism, expertise of the embryologist, and embryo quality are all important factors in deciding when to do embryo biopsy. Patients should discuss with their IVF doctor about the best time to do biopsy. If PGS testing is done, is prenatal testing recommended? Although PGS for unbalanced rearrangement screening is highly accurate, there is still a chance of misdiagnosis. Prenatal testing is recommended to confirm the results of PGS testing and may detect other abnormalities not tested for by PGS. Whereas PGS by array CGH technology cannot differentiate between normal chromosomes and a balanced rearrangement, prenatal testing by chorionic villus sampling (CVS) or amniocentesis can identify balanced rearrangements. Pregnant mothers should discuss options for prenatal testing with their obstetrician.