SCHEDULE CONSULTATION EN BACK Fertility Treatment The Basics of Preimplantation Genetic Testing Preimplantation Genetic Testing (PGT) is an embryonic procedure done in unison with IVF where a tissue biopsy of a developing embryo is taken and tested for genetic (ab)normalities. The tissue biopsy takes place on blastocysts stage embryos. Afterwhich, the tissue is sent to a third party genetics lab for analysis. PGT is broken into 3 main testing categories: Preimplantation genetic testing for aneuploidies (PGT-A), monogenic/single gene defects (PGT-M), and chromosomal structural rearrangements (PGT-SR) Patient Populations Goal Genetic test type Requires personalized test preparation? PGT-A AKA PGS All IVF Patients (particularly if female is 35+) and those looking to choose the sex of their child Increase chances of achieving a successful pregnancy or having a child of a particular sex Screens for chromosome abnormalities and sex chromosomes No PGT-M AKA PGD Patients at high-risk of having a child with a specific genetic disease Reduce risk of passing on an inherited condition Screens for a specific single gene disorder Yes PGT-SR AKA PGD Patients with a chromosomal rearrangement Increase chances of achieving a successful pregnancy with a normal/balanced chromosome constitution Screens for specific unbalanced chromosome rearrangements Typically no, pending case review PGT-A: Preimplantation Genetic Testing for Aneuploides Formerly known as PGS (preimplantation genetic screening), PGT-A gives information about the number of chromosomes within IVF embryos. Those with normal results have higher odds of achieving a successful pregnancy. It is also often used to choose the sex of the anticipated child. NORMAL CHROMOSOME NUMBER ABNORMAL CHROMOSOME NUMBER Potential PGT-A Results There are three potential results that can come from each embryo tested with PGT-A: Euploid (normal) Mosiac (mixed – some cells that were tested in the embryo are normal, some are abnormal), Aneuploid (all cells tested are abnormal). Possible PGT-A results Number of chromosomes per cell Likelihood of producing a successful pregnancy Transfer priority Euploid Normal High High Mosaic Mixed (some normal and some abnormal) Intermediate Intermediate, may be considered if no euploid embryos are available Aneuploid Abnormal Low Not prioritized Aneuploidy and Age While everyone is at risk of producing aneuploid embryos, the risk goes up as women age. Aneuploid embryos are associated with increased implantation failure and miscarriage and lower live birth results. Aneuploidy Frequency with Age Maternal Age Courtesy of CooperGenomics data of blastocyst biopsies tested via Next Generation Sequencing (2014-2017) PGT-A reduces miscarriage rates Maternal Age Courtesy of CooperGenomics data of blastocyst biopsies tested via Next Generation Sequencing (2014-2017) PGT-A increases live birth rates Maternal Age Courtesy of CooperGenomics data of blastocyst biopsies tested via Next Generation Sequencing (2014-2017) The PGT-A Process PGT-A is added in conjunction to an IVF treatment cycle – the only adjustment from a patient perspective is that the embryos must be frozen to await the test results; this means it requires a Frozen Embryo Transfer. Lucky, the technology around freezing, thawing and transfering has reach it’s maturity with success rates equal to fresh transfers. So much so that people freeze and do FETs at the same rate as fresh transfers even when not doing genetic testing. IVF IVF: In vitro fertilization must be done in order to abtain the necessary embryos. Embryo Biopsy An embryologist carefully removes a small sample of cells (usually 5-10 cells) from each embryo’s trophectoderm (the part of the embryo that becomes the placenta). Genetics Lab The biopsied cells from the previous step are sent to a genetics lab to perform the actual tests. Meanwhile the embryos are frozen here at CNY to await results. FET After receiving the results and discussing them with you, we choose an embryo and thaw it for your frozen embryo transfer. Remaining embryos remain frozen indefinitely until ready for use. Why PGT-M? PGT-M: Preimplantation Genetic Testing for Single-gene Defects PGT-M is performed on blastocyst stage embryos to significantly reduce the risk of having a child with a specific genetic disease. Whether you have a genetic disorder or have learned of a risk status through screening, an affected family member, a pregnancy, or a child with a known single-gene disorder, PGTM may be the solution for your family-building needs. You and your partner are carriers of the same autosomal recessive condition Cystic Fibrosis Sickle cell anemia Tay-Sachs disease You are a carrier of an X-linked condition Duchenne Muscular Dystrophy Hemophelia B Fragile X You or your partner have an autosomal dominant condition Huntington’s Disease Neurofibromatosis Marfan Syndrome You or your partner have a mutation associated with hereditary cancer BRACA1 & 2 MLH1 MSH2/6 PMS1/2 TP53 CHEK2 In addition to the above, PGT-M can be performed for over 6,000 other single-gene disorders. The PGT-M Technology: Karyomapping A genetic mapping technology that maps hundreds of thousands of data points across the entire genome and subsequently performs a linkage analysis. Carrier father Chromosome region analyzed by PGT-M Unaffected Carrier Affected Carrier Mother Embryo 3 carrier Embryo 2 carrier Embryo 1 unaffected Embryo 4 affected The PGT-M Process PGT-M involves a close examination of the mutation an individual carries. Each test design is unique and specifically tailored to the individuals being tested so DNA samples from both partners (and often additional family members) will be required to design a test. Case Review It all starts with speaking to a genetic counselor to ensure your disorder is covered and determine if additional testing of the intended parents or family members is required. Collection If necessary the lab will collect DNA samples (and appropriate family members) to design a tailored test. IVF In Vitro Fertilization must be done to get the embryos that are to be tested. Embryo biopsy After growing to blastocyst stage embryos a biopsy is taken by our embryologists and sent to the genetics lab. The embryos are frozen to await test results. PGT-M Testing is done and results sent back to us. FET After reviewing the results an embryo can be thawed and transferred into the woman’s uterus. Why PGT-SR? PGT-SR: Preimplantation Genetic Testing for Chromosomal Structural Rearrangements Chromosomal rearrangements are changes from the normal size or arrangement of chromosomes. Chromosome rearrangements can be inherited or can happen via a spontaneous mutation. Many carriers are healthy and are unaware of their carrier status until they try to have children as they are at an increased risk of passing along that genetic mutations which often leads to an unsuccessful pregnancy. Who it’s for PGT-SR is for people who have a chromosome rearrangement and should thus be considered in conjunction with IVF if you had a child or pregnancy with a chromosome rearrangement or if you or your partner is a carrier of an: Reciprocal Translocations Reciprocal translocations occur when pieces of genetic material break off from two different chromosomes and swap places. Robertsonian translocations Occur when two chromosomes break and then join together to form one large chromosome. Most commonly occurs with chromosome numbers 13 & 14 and 14 & 21. This can result in Translocation Down syndrome, trisomy 13, or uniparental disomy (UPD). Inversions Inversions are chromosome rearrangements that involve only one chromosome. In an inversion, a segment of a chromosome is flipped and reinserted upside down. The PGT-SR Process In most cases the PGT-SR process follows a more simple process similar to PGT-A and requires no additional testing. In some cases, it may be necessary to have a more extensive workup and follow a path similar to PGT-M. Related Posts Fertility Treatments + Read More Affording Fertility Treatment + Read More The Fertility Clinic Always Near Me + Read More Have questions or are you ready to get started? We love our website and it truly is a fantastic resource to learn about fertility, CNY and treatment options, but remember no matter where you are in your journey, we are here to help. So if you'd like, please keep on reading, but if you're stuck and need some help or ready to get started with a consultation, please don't hesitate, WE ARE HERE FOR YOU. 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