Should You Genetically Test Your Egg?

Testing DNA and Genetics of an egg before fertilization during In Vitro Fertilization.

As a woman ages, her eggs are more prone to genetic chromosomal abnormalities. These abnormalities may sometimes lead to increased age-related infertility, miscarriages and birth defects. The most common cause is age. When a woman is over 4o these chances are increased and it may be healthier for the child, and the mother, to use a younger woman’s egg, whether it is a sister, cousin, or donor egg, acquired through egg donation.

How Does Egg testing Work?

Since the quality of an egg cannot be determined only on appearance, methods to evaluate eggs using genetic probes have been developed. The egg discards DNA at two different times during its development: ovulation and fertilization. This occurs in order to reduce the number of chromosomes to 23 in order to match the 23 chromosomes delivered by the sperm. This discarded DNA (in the form of excess chromosomes) is jettisoned outside of the egg as a small, round pocket called the polar body.

So how to Reproductive Endocrinologists and their embryologists test this egg quality, before moving forward with fertilization in an IVF (In vitro fertilization) process? Through the removal of the polar body, as a biopsy. And if 23 chromosomes are found in the polar body, the assumption is that a normal count of 23 chromosomes remains in the egg itself. Testing of the polar body using modern genetic techniques such as Comparative Genomic Hybridization (CGH) or Array-CGH, allows identification of abnormal eggs and can help determine the number of genetically normal eggs a woman has to freeze. These are the most up to date ways to test eggs that are waiting to be used to make embryos for In Vitro and an eventual embryo transfer.

Limitations

However, there are several important limitations to this technology. First, CGH and Array-CGH are still considered experimental, with minimal clinical data available. Additionally, most clinical data is based on young egg donors and does not reflect the genetic status of eggs from women in their late 30’s or older. Second, embryos may be genetically abnormal due to mistakes contributed by the egg at the time of the first polar body formation or the second polar body formation; or mistakes contributed by the sperm at the time of fertilization.

Therefore, assessing only the first polar body by no means guarantees that a normal embryo will derive. Third, and perhaps most concerning, is the lack of research regarding the effects of biopsying an egg prior to freezing. Several years ago we completed a small clinical trial wherein we performed polar body biopsy on eggs prior to freezing. We found a high degree of egg damage. In addition, many eggs demonstrated abnormal chromosome segregation after fertilization, and none of the patients from this study achieved a pregnancy. This particular study was conducted with the most current and success-yielding method of egg freezing, vitrification. We vitrified the study eggs using a closed container to protect the eggs from viral or fungal contamination.

Our Study

This closed container method, used at the Egg Freezing Center, is currently being tested for FDA approval. Other vitrification methods (open container) expose eggs directly to liquid nitrogen and can lead to contamination. For this reason, the method in use at Egg Freezing Center, and the data presented here is very relevant for patients contemplating fertility preservation and genetic testing.

Recommendations

It is my recommendation that women contemplating egg freezing should not undergo genetic testing of their eggs prior to freezing, but rather use these promising technologies to test eggs in the future once they are fertilized as embryos and have all possible egg-derived and sperm-derived abnormalities present for detection.