PGS & PGD
A Guide to PGS/PGD at Reproductive Associates of Delaware
What is Pre-Implantation Genetic testing?
Traditionally, the embryo selection process for an IVF cycle is based solely on an embryo’s phenotype (the physical appearance). However a physically normal embryo is not necessarily an indication that the embryo is chromosomally or genetically normal. Pre-implantation genetic screening and testing can provide insight into the genetic and chromosomal health of the embryo. At RAD we offer both Pre-implantation Genetic Screening (PGS) and Pre-Implantation Genetic Diagnosis (PGD). These tests can greatly enhance the outcomes of embryo selection for an IVF cycle, increase the chances of a healthy pregnancy and lower the rate of miscarriage. Determining whether or not to pursue testing depends on a variety of factors, and is both a personal and medical decision.
Pre-Implantation Genetic Testing is performed on cell(s) that are safely removed from an embryo 5 or 6 days after fertilization to test for a particular inherited genetic disease or for chromosomal abnormalities. These tests provide our IVF experts with the unique and specific genetic make-up of each embryo, allowing our team to choose the embryo with the lowest risk of genetic mutations carried by the parents and greatest chance for a healthy pregnancy.
Why PGS and PGD at RAD is Unique
At RAD we utilize a unique and highly technical method of PGS and PGD testing. Traditionally, many fertility laboratories perform testing on day 3 of the embryo formation because it allows for an easier extraction of the cells. However this poses some risk, such as injury to surrounding cells, or the extraction of a cell that does not provide a complete picture of the genetic composition of the embryo. At RAD, we perform a more technically challenging test by extracting the cells on the 5th day of development. Not only does this allow us to analyze multiple cells, providing a more precise measurement of the genetic components of the embryo, but it also lowers the risk of embryo damage. This sensitive testing provides patients with a greater chance for a successful pregnancy and sets RAD apart as an advanced center in fertility technologies.
Reproductive Associates of Delaware January 2010 – December 2012
Patient Benefits:
There are several important benefits for prospective patients who are considering PGS:
- High implantation and pregnancy rates (about 60%) and extremely low miscarriage rates (less than 10%).
- Enhanced confidence in single embryo transfer. With PGS testing, embryologists can identify embryos that are chromosomally normal and have the highest chance of implantation, therefore eliminating the need to transfer multiple embryos. This also decreases the chance of high-risk multiples pregnancies
- Safer IVF stimulation cycles, avoiding hyper stimulation syndrome almost 100% of the time.
- Enhanced fetal growth and pregnancy outcome with frozen embryo transfer.
- The ability to identify and freeze healthy embryos for fertility preservation for future pregnancy wishes.
- Provides credible information for patients considering donor egg or embryo adoption in situations where no embryos are chromosomally normal (typically in older patients).
When to consider PGS:
We offer PGS to all IVF patients, although we recognize that PGS may provide more benefit to patients of advanced maternal age. All IVF patients will meet with our Genetic Counselor, Tracy Gardner to consider whether PGS makes sense for them. Common indications that are discussed for recommending IVF with PGS include:
- Maternal age over 34
- Paternal age over 40
- Unexplained infertility at any age
- Prior failed IVF without explanation(s)
- Prior pregnancy losses
- Diminished ovarian reserve (i.e. low AMH, high FSH)
When should I consider PGD?
Couples who are carriers of inherited genetic diseases can consider PGD testing to increase the chances of a healthy embryo selection. PGD tests for diseases such as
- Sickle cell anemia
- Tay-Sachs Disease
- Cystic Fibrosis
What if I don’t know if I am a carrier?
As part of RAD’s routine initial patient work up, you will be offered testing for certain genetic diseases, in order to develop an appropriate plan of care. If both partners are carriers for specific genetic mutations, PGD offers the most appropriate solutions to identify those embryos that lack the familial genetic disease mutations.
| Age at time of retrieval | All Ages | <35 | 35-39 | >39 |
|---|---|---|---|---|
| Number of Thaws/Transfers | 121 | 59 | 48 | 14 |
| Percent Embryo Survival | 99.3% | 100.0% | 98.1% | 100.0% |
| Ongoing Clinical Pregnancy Rate | 56.20% | 54.20% | 58.30% | 57.10% |
| Implantation Rate | 61.20% | 60.30% | 61.50% | 64.30% |
| Mean embryos transferred | 1.1 | 1.2 | 1.1 | 1 |
| Age at time of retrieval | All Ages | <35 | 35-39 | >39 |
|---|---|---|---|---|
| Number of Thaws/Transfers | 428 | 291 | 119 | 18 |
| Percent Embryo Survival | 95.70% | 95.90% | 95.30% | 96.40% |
| Ongoing Clinical Pregnancy Rate | 44.00% | 49.70% | 34.70% | 11.80% |
| Implantation Rate | 47.80% | 55.60% | 35.40% | 23.10% |
| Mean embryos transferred | 1.2 | 1.2 | 1.4 | 1.5 |
| Age at time of retrieval | All Ages | <35 | 35-39 | >39 |
|---|---|---|---|---|
| Number of Transfers | 386 | 232 | 118 | 36 |
| Ongoing Clinical Pregnancy Rate | 41.70% | 51.70% | 33.90% | 2.80% |
| Implantation Rate | 44.10% | 53.20% | 39.90% | 12.50% |
| Mean embryos transferred | 1.2 | 1.1 | 1.3 | 1.6 |
