What Is PGS Testing and Should I Consider It?

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There are many decisions to be made throughout the process of in vitro fertilization (IVF). Something that you may consider discussing with your fertility specialist is whether or not to use Preimplantation Genetic Screening. This type of genetic testing can only be done with IVF as it is done on embryos prior to being implanted in the uterus. Before you bring up genetic testing, you should get an understanding of what to expect with PGS.

What is PGS?

Preimplantation Genetic Screening, PGS, screens embryos for chromosomal abnormalities by testing if an embryo has the correct number of chromosomes and which are present. The test also detects translocations or defects that result from the rearrangement of chromosomes. A patient who positively identifies as a translocation carrier is at an increased risk of miscarriage or a failed IVF cycle.

Genetic testing is an ever-evolving area of reproductive medicine. PFCLA offers the most advanced techniques in pgs ivf testing to patients of their state-of-the-art IVF treatment program. Thousands of couples have turned to the internationally-known PFCLA for infertility treatments and assistance to realize dreams of having healthy babies.

How do genetic screening work and why might I consider it?

There are three types of genetic screening options:

  1. Preimplantation Genetic Screening: PGS analyzes the overall chromosomal health of an embryo and screens for genetic diseases related to chromosome number abnormalities.
  2. Preimplantation Genetic Diagnosis: PGD screens IVF embryos for specific genetic conditions prior to embryo transfer. This option helps a fertility specialist select the healthiest embryos for transfer and improve the likelihood of conception and healthy birth.
  3. Next-Generation Sequencing: NGS analyzes the chromosomal content of cells using a computer-generated analysis of data.

During an IVF cycle, a woman’s eggs are harvested and fertilized by sperm. Five days after fertilization, during the blastocyst stage, a biopsy of 5-10 cells is taken from each of the human embryos for genetic testing. Once the results are back, the most genetically viable human embryos are chosen for embryo transfer.

A common reason for couples to undergo genetic testing is if they either have or are known carriers of a genetic disease. Older women who are 40 years of age or older are at an increased risk of poor quality eggs and of bearing children with Down Syndrome. Chromosome abnormalities often cause miscarriages and failed IVF cycles. Women who have experienced multiple miscarriages or failed IVF cycles could increase their IVF success rate with PGS.

People don’t often learn about genetic disorders and rare diseases until they have been diagnosed with one. Many conditions, like myocarditis, are underdiagnosed and not well-known. The Myocarditis Foundation’s mission is to raise awareness about myocarditis to minimize or eliminate its progression to heart dysfunction, heart failure, and sudden death. Heart disease research, grants, and public education are all essential to raising awareness of myocarditis research.

There are several benefits and risks of PGS/PGD.

PGS and PGD are beneficial genetic tests that can help detect genetic diseases and chromosomal abnormalities. By identifying abnormal embryos, a reproductive endocrinologist can prevent the transfer of unhealthy embryos to the uterus. Only transferring the most viable embryos will increase the likelihood of a successful IVF cycle and help reduce the risk of miscarriage. PGS and PGD also help parents who are known carriers of an inherited genetic disorder or rare disease decrease the risk of passing it to their child.

PGS and PGD require IVF, a fertility treatment that risks ovarian hyperstimulation syndrome, multiple pregnancies, and birth defects unrelated to the genetic test. There is a chance that freezing or biopsy could harm the embryos. False-negative results do happen, which could end up in the transfer of an abnormal embryo that ends in miscarriage while healthy embryos are discarded. PGS and PGD don’t screen for every possible genetic disease or disorder, which means there is no guarantee a tested embryo will result in a healthy baby.

Deciding to undergo PGS testing is an important conversation to have with your reproductive endocrinologist. Be well-informed about your options and feel comfortable making a decision that will help you have a successful, healthy pregnancy.


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