Preimplantation (Embryo) Genetic Testing Options

Preimplantation Genetic Testing

Preimplantation genetic testing (PGT) is a specialized technique used to identify genetic disorders in embryos created through in vitro fertilization (IVF) before conception. Did you know that about 5% of IVF cycles, which is about 8500-9000 cycles, involve PGT? [Centers for Disease Control and Prevention, 2013] There are 2 types of testing, as discussed on our website. One test looks at the count of chromosomes (PGS), and the other looks for specific gene disorders (PGD). Worldwide, PGS is more commonly used than PGD [Harper et al., 2012].

This genetic screening of embryos can avoid transferring an embryo with a chromosomal or genetic abnormality back to the uterus. When the lab runs the test, we hope to have at least one normal embryo to place into the woman.

A common motivation to use PGD is to produce a biologically-related child who is protected from a specific disease. Similarly, another common motivation to use PGD/PGS is to reduce the chance of a repeat miscarriage or the chance of having to decide about terminating a pregnancy with an affected fetus.

Both the increasing technical complexity of this lab test and the changing options for people considering this testing can make it difficult for people to decide what to do. There is some research on what are the key motivations and concerns of patients considering using PGD/PGS. But there are many things we don’t know about how people view this genetic testing and how they decide whether or not to use it. Two of the many unknown concepts is the attitude toward PGD/PGS from the male-partner point-of-view, and how the couple’s relationship is impacted by considering this testing.

We are studying patients’ attitudes toward and decisions about PGD/PGS with colleagues at Stony Brook University and The New School for Social Research. This is a voluntary study of patient decision-making regarding preimplantation genetic testing (both PGD and PGS).

We invite you to share your perspective and experience through the study, if you have considered using (even if you decided not to) or have actually used preimplantation genetic testing (PGD or PGS) within the past 6 months. There are 2 ways to participate: you can have a 1-hour conversation (“interview”) with the study investigator plus complete an online questionnaire (30 minutes), or you can complete the online questionnaire anonymously without the interview. Financial compensation is available: $50 Amazon gift card for the interview plus questionnaire, or enter a raffle for a $50 gift card if you complete the questionnaire without being interviewed. See the study website for more information: PGTstudy.org.