Nora Low and her husband Travis tried for two years to have a baby. After three miscarriages, they turned to reproductive technology to get pregnant.

Gene screen

The couple used PGS (Pre-implantation Genetic Screening) to screen their embryos for chromosomal abnormalities. Here’s how it works: a woman’s eggs are harvested and fertilized. After five days, a few embryonic cells are tested to make sure they’re normal.

 “PGS is looking at every chromosome in the embryo,” says Tristan Orpin, the executive vice president of Clinical Genomics at Illumina, a company pioneering PGS.

“The IVF clinic will only transfer those embryos that have the normal complement of chromosome,” he adds. “Women who opt for IVF with PGS have a much higher success rate: 75 to 80 percent, irrespective of a mother’s age.”

Low, who’s 34 and works at Illumina, PGS was a success. “We implanted two and we have two baby girls,” says Low, whose daughters Madison and Makena who were born last summer.

Increasing fertility

Seven million women have infertility issues. The older women get, the more their fertility rates decline.

“Without doing genetic testing, 50 to 70 percent of the time, when you put an embryo back into the uterus, they’re not going to get pregnant or they’re going to result in a miscarriage,” says Joe Conaghan, Ph.D. and IVF lab director at Pacific Fertility Center in San Francisco, a clinic using PGS.

"Seven million women have infertility issues. The older women get, the more their fertility rates decline."

With PGS, typically only one embryo is implanted, decreasing the chance of multiples and a high-risk pregnancy. “The patients who are successful are ecstatic, because they start out of the pregnancy know it’s normal,” explains Conaghan. “That’s a big shift from how it was five years ago.”

The next gold standard

PGD, Pre-implantation Genetic Diagnosis, is another exciting fertility development. With PGD, now in its 25th year, embryos are screened for genetic disorders such as hereditary diseases and single gene disorders, including cystic fibrosis.

“PGD can help avoid almost all of these gene conditions from being passed down to the next generation,” says Orpin, noting if couples do PGD, they often do PGS at the same time.

Only 5 percent of all IVF cycles use PGS. But more clinics are expected to start using it. “In 10 years time,” says Orpin, “I think PGS will be the standard of care.”

Currently, PGS is self-pay. Premiums are coming down, and Orpin says insurance may start to cover this testing. Low, however, remains grateful for the technology: “Our family is finally here and that’s the best feeling ever.”