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Study Finds New Way to Test for Genetic Disease in Embryos

FertilityAuthority,  April 2, 2013

A study published in the March 2013 edition of Reproductive Biomedicine Online examines a new technique for sampling embryo DNA. Scientists explain how extracting fluid from blastocysts could be a safer and more efficient alternative to biopsy via preimplantation genetic diagnosis (PGD).

Currently, PGD is an elective procedure offered in conjunction with in vitro fertilization (IVF) which removes one cell from the embryo to screen for genetic diseases and chromosomal abnormalities. Effectively, it can tell a woman about the health of her embryo and the chances that the embryo will develop into a healthy pregnancy. More than 50% of all miscarriages are linked to genetic abnormalities in an embyro. There is some debate about the risks to the embryo after PGD biopsy, though most research and advice from fertility doctors assures patients their embryos will suffer very little risk through the PGD process. Utilizing this fluid sampling technique could eliminate some of these concerns.

Investigators on this study sampled fluid from day 5 and day 6 blastocysts, and each embryo was cryopreserved. Through polymerase chain reaction (PCR), they were able to determine patterns of sex chromosomes. Microarray tests were also utilized to test for the appropriate number of chromosomes.

The study is the first of its kind and further research is required to determine the risks and benefits of blastocoel fluid sampling compared to PGD. It would be most beneficial if fluid sampling could be offered at a lower cost to fertility patients. Currently, PGD costs about $4,000 in addition to the cost of IVF and is not covered by health insurance.


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