PGD and PGS

Through Preimplantation Genetics Diagnosis (PGD), VCRM helps patients to achieve their goal of having a healthy baby in collaboration with RMS Genetics, a leading ART and Genetics Center.

PGD is of critical importance to the following patient group: 

• Couples who are at risk for passing on inherited genetic disease to their offspring

PGD Technique

PGD is performed as a part of an In Vitro Fertilization cycle where multiple eggs are produced, retrieved from the ovaries and fertilized with the partner's sperm in the Embryology Laboratory. IVF gives us access to embryo(s) in vitro. PGD is then performed by removing one or two cells from each embryo through a procedure called embryo biopsy. These cells are then transported to RMA-NJ and analyzed in the RMA Genetics Laboratory for the presence of genetic disorders and chromosomal abnormalities. This sophisticated and technologically advanced testing attempts to identify embryos which are free of abnormalities and more able to achieve the patient's goal of a healthy baby.

Preimplantation Genetic Screening (PGS): Caveat Emptor (buyer beware)!

While PGD is definitely helpful in couples with single gene defects or those with balanced translocations, PGS for aneuploidy screening is not. PGS has several limitations: currently, PGS uses flurorescence in situ hybridization (FISH) to test a limited number of chromosomes (usually 8-9), and therefore FISH cannot detect all 23 chromosomes. As a result, FISH suffers from both false-positive (i.e labeling an embryo as abnormal when it is normal) and false-negative (i.e labeling an embryo as normal when it is abnormal). In addition, PGS adds a significant cost to an IVF cycle ($1500-4500) without any clear benefit. A large randomized European study published in the summer of 2007 in the New England Journal of Medicine showed that not only PGS does not add any benefits over routine IVF, it results in a significantly lower pregnancy rate. The European randomized trial had to be stopped before the study was completed because of the lower pregnancy rate in the PGS group.

Another study was recentlu published in the September 2009 issue of Fertility and Sterility. In that study, embryos were biposied on day 3 and then again on day 5. Of embryos that were labeled as abnormal on day 3, about 40% were found to be normal on day 5 analysis. These results demonstrate that many embryos "self correct". The authors note that "PGS results should be interpreted with caution". Many studies have shown that by growing embryos to blastocysts, self correction occurs in the majority of embryos that reach the blastocyst stage. This is another paper added to the many already published claiming that PGS using FISH is essentially worthless.

The American Society for Reproductive Medicine (ASRM) does not currently advocate the routine use of PGS in women > 35. A recent Cochrane review in 2006 also concluded that there is insufficient evidence to support the routine use of PGS for aneuploidy. In addition, a recent study published in September 2008 in the journal Fertility and Sterility showed that traditional IVF (i.e without adding PGS) with prenatal screening remains the most cost-effective option to help women aged 38-40 to avoid an abnormal pregnancy.

We do NOT use PGS at VCRM for the above reasons. In addition, we have helped many couples who failed multiple attempts at IVF with PGS at other programs have their own babies (these couples were told to move on with donor egg) WITHOUT the use of PGS (and using their own eggs).

Below is a photo of a blastocyst after FISH