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Time and Cost-Effective Genetic Screening Brings Hope to Fertility Patients

July 17, 2013

Last week, a Philadelphia baby was the first born as the result of a new genetic screening technique (currently in clinical trial phase) bringing a new sense of hope to fertility patients with previously failed fertility treatment cycles.

The international research study with two sites in the United States and led by researchers at Oxford University is examining the use of a new genetic screening, Next Generation Sequencing (NGS), for identifying genetically normal embryos expected to result in a healthy pregnancy.

“Two patients from the U.S. were involved in the study: one in Boston and one at Main Line Fertility. Our patient went through five years of infertility and had thirteen blastocysts. We sent the biopsies to Oxford and found that she had three normal embryos,” says Dr. Michael Glasser of Main Line Fertility in Philadelphia.

The patients, Marybeth Scheidts and David Levy, gave birth to son Connor in May and the Boston patient is currently expecting.

NGS involves embryo biopsy performed on day 5 blastocysts and works off of the whole genetic sequence. Within 24 hours it can ensure the correct number of chromosomes are present and can predict the risk of future medical conditions in the embryo.

More than half of all miscarriages are the result of chromosome abnormalities in the embryo. Genetic screening has played an extremely beneficial role in helping patients to get pregnant with a healthy embryo, and carry that pregnancy to full term with a much lower risk of genetic disease. Genetic screening allows embryologists to select the most normal embryos for transfer in an in vitro fertilization (IVF) cycle.

“With NGS, the baseline pregnancy rate will increase by 50% and the miscarriage rate will decrease by 50%. Couples will have fewer frozen embryos (likely due to less aggressive protocols with the increase in genetic screening confidence) which benefits those concerned about the moral-ethical issues associated with freezing embryos, and there will be fewer multiples because single embryo transfers will be standard. There will be fewer people sitting on the sidelines of IVF,” Glassner states.

Patients will be able to make educated decisions to move to IVF with NGS testing with increased pregnancy success rates rather than going through the motions of failed intrauterine insemination (IUI) or traditional IVF cycles without genetic screening. Glassner continues: “Some patients waste months with conservative efforts when [a treatment like this] might have worked sooner. Especially if they are over 35 and want three kids, they can get pregnant quicker and have normal embryos in the freezer for later use.”

Current chromosome-screening tests are expensive, but NGS comes at 70% less cost than existing genetic screening methods. Where current genetic screening procedures can add $5,000 or more to the already hefty price tag of IVF, NGS is available at approximately $1,000-$2,000. When compared to the overall cost of IVF, the cost of embryo freezing and storage, and potential cost of multiple cycles, utilizing an efficient and cost effective screening like NGS seems like a no-brainer.

Dr. Glassner believes NGS will become a standard procedure in conjunction with IVF due to its likelihood for success and low cost.

Study participants are provided free biopsy, and genetic testing. They are responsible for the cost of fertility drugs and IVF costs while participating in the study.


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