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Genetic Screening of Embryo



Preimplantation Genetic Testing for Aneuploidy (PGT-A)

pgt-a or preimplantation genetic testing for aneuploidies, is the process of screening ivf embryos for chromosome abnormalities prior to transfer. our goal is to increase the likelihood of achieving a successful pregnancy. this allows us to test your embryos before one is transferred to your uterus, to ensure your baby won’t develop have any chromosomal irregularities. embryos are either euploid (normal) or aneuploidy (abnormal). we will only transfer normal embryos. pgt-a has come a long way in the past couple of decades and is one of the most incredible advances in assisted reproductive technology.

if you plan on testing your embryos, we will have to freeze those embryos prior to transfer, while we wait on results from the genetic lab. mate partners with igenomix, the best genetic lab in the country. igenomix also offers free counseling for all mate patients if they choose. speak to your local clinic to set up this session. this process is called embryo banking. after your results come back, we will thaw a normal embryo and transfer that one, in a procedure called fet (frozen embryo transfer). it’s important to note that if you plan on doing pgt-a, we can’t do a fresh ivf cycle.

the carrier screening test during your fertility assessment will also let us know if you and your partner are both carriers for certain hereditary genetic diseases. if this tests comes back that both you and your partner are a carrier for a disease, your baby has a high chance of being affected. if both parents are carriers, their chance of having an affected child is 25%. if one parent has the disease their chance of having an affected child is 50%. this will require further testing and evaluation to ensure only embryos without the disease are transferred. during pgt-a, all your embryos will be biopsied and screened for any chromosomal abnormality. 

pgt-a is a preventative measure used to identify chromosomal abnormalities in the embryo, even if there’s no known evidence of an abnormality in either parent. the procedure screens for chromosomal abnormalities such as deletions or translocations, a defect caused when an individual’s chromosomes are rearranged

each cell should contain 23 pairs of chromosomes, or 46 chromosomes in total. pgt-a testing assesses all 23 pairs of chromosomes, including the two sex chromosomes (x and y) that determine the embryo’s sex. pgt-a testing can test to see if there are any extra or missing copies of chromosomes in each embryo. chromosome abnormalities are responsible for 60% of miscarriages. 

your age plays a critical role in the health of your eggs. the health of your embryos is largely determined by chromosome abnormalities. abnormalities are unlikely to implant and usually result in miscarriage or disorders. by the time you reach 35, 50% of your eggs have normal chromosomes, by 40 only 10-15% of your eggs have normal chromosomes. we highly recommend pgt-a screening for any women above 35. 

pgt-a has been shown to increase success rates of pregnancy, lower miscarriage rates, and avoid abnormalities. after your embryos are tested the doctor will perform an fet or (frozen embryo transfer.) this will usually be a few weeks after your egg retrieval and we will need to prepare your body with hormones the week before in order to prepare your uterus for an embryo. we want the conditions to be just right for that embryo to stick. 

Step 1: ivf + embryo banking

the first step required for pgt-a screening will be an ivf cycle. ivf is about a month-long process where your ovaries are stimulated to produce eggs. those eggs are retrieved and then fertilized in our lab with sperm.

Step 2: tissue biopsy

after about 5-6 days in the lab, your embryos will be biopsied and that biopsy will be sent to igenomix. when an embryo reaches the blastocyst stage, the tissue biopsy will be taken. a tiny cell sample is taken from every embryo. all embryos will be frozen directly after the biopsy. 

Step 3: tissue shipping and embryo freezing

the frozen tissue sample will be placed in a tube and shipped immediately to igenomix via fed-ex. your tissue samples are extremely well protected and ship under the highest priority. all embryos will be frozen directly after the biopsy via vitrification. embryos remain at mate fertility. 

Step 4: pgt-a at igenomix lab

when your samples reach the igenomix lab a comprehensive analysis of all 46 chromosomes will be completed using next generation sequencing (ngs). they will screen for any and all chromosomal abnormalities.

Step 5: report

after your embryos are tested, the lab will send a report to mate describing the status of each embryo in detail. your provider will call to discuss the results of the report and next steps.

Step 6: choosing an embryo and frozen transfer

based on the report in-conjunction with input from yourself and your provider, the embryologist will choose the healthiest embryo to transfer. that embryo will be transferred into your uterus. patients receive medications to optimize the uterine lining and receptivity for the embryo.