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Reproductive Health

Video: Separating Fact From Fiction About Infertility

Genomics can help improve the possibility of having a live birth

Separating Fact From Fiction About Infertility
April 21, 2015

Every year in April, RESOLVE (the National Infertility Association in the U.S.) designates one week to encourage discussion, awareness and grassroots advocacy about infertility. Their goal for the week is to share resources and help couples cope with this often painful journey.

As a leading provider of solutions for reproductive and genetic health, Illumina applauds these efforts. We are joining the movement to help build understanding of the issues surrounding infertility, and to share how genomics is beginning to improve the possibility of having a live birth.

What is infertility?

Infertility is defined as not having become pregnant after one year of having regular sexual intercourse without using birth control. For women over 35 years of age, the timeframe for trying to conceive is reduced to six months. According to the U.S. Centers for Disease Control, 11 percent of women (one out of every eight couples) between ages 15 and 44 find it difficult or impossible to become pregnant or to carry a pregnancy to term.

The World Health Organization, the American Society for Reproductive Medicine and the American College of Obstetricians and Gynecologists recognize infertility as a disease. Both male and female partners may be at risk for infertility, with about one third of infertility attributed to the female partner and an equal percentage attributed to the male partner. The final third can be attributed to both partners or unexplained infertility.1,2

Fortunately, reproductive medicine specialists can offer many treatments for female, male and unexplained infertility. These include medicine and surgery, as well as assisted reproductive technology (ART). ART includes artificial insemination (where a concentrated dose of sperm from a partner or donor is injected into the female’s uterus with a catheter) and in vitro fertilization (IVF) among other solutions, though IVF accounts for more than 99 percent of all ART procedures. ART also includes the use of genomic-based solutions offered by Illumina to improve the probability of success.

Traditional interventions

During IVF, a doctor provides hormones to stimulate the female ovaries. The ovaries produce multiple eggs that can then be manually retrieved by the fertility specialist. In a laboratory, the specialist uses the partner or donor sperm to fertilize the female’s eggs, creating embryos that grow outside the body for three to five days.

A healthy embryo typically has 46 chromosomes. A chromosome holds the genetic material known as DNA, which determines – among other things – how our bodies will develop and function. DNA is also what is ‘screened’ through genomics-based medicine. Within each cell, there are 23 pairs of chromosomes numbered one to 22 (autosomes) as well as two sex chromosomes. Sometimes, an embryo has missing or extra chromosomes.

While ART procedures, and IVF in particular, have resulted in helping many successfully achieve the dream of having a child, less than one in three ART-related cycles resulted in a live birth in 2012.3 There are many reasons that an IVF procedure may not result in a live birth, including a large percentage of embryos that have missing or extra chromosomes.

New options via genomics

In a standard IVF procedure, reproductive medicine specialists look at available embryos through a microscope to select the optimal embryo(s) for implantation back into the uterus. This procedure, while increasing the likelihood of a successful pregnancy, does not screen all 46 chromosomes. Also, to increase the probability of a successful pregnancy, multiple embryos are often implanted simultaneously, increasing the chances of high-risk multiple pregnancies.

However, studies have proven that embryos with missing or extra chromosomes have difficulty implanting in the uterus or result in miscarriage within the first trimester of pregnancy.4,5 Illumina has partnered with reference laboratories to offer next-generation sequencing services together with IVF called preimplantation genetic screening (PGS).

During PGS, an embryologist takes a few cells from either the egg or the embryo and examines each of the chromosomes to identify the best embryos for transfer back into the uterus. One study showed that patients who add PGS to an IVF procedure have close to double the chances of having a successful single pregnancy than those who undergo IVF alone.6 Because of the higher rate of success, the specialist is often able to transfer just a single embryo, providing a drastic reduction in the possibility of a multiples pregnancy.

Infertility can be frustrating and overwhelming. As RESOLVE notes in their campaign for National Infertility Awareness Week, ‘you are not alone.’ At Illumina, as a trusted leader in innovative, accurate genomic technologies, we are empowering informed choices for reproductive and genetic health. We offer a comprehensive portfolio of genomic solutions to allow timely, reliable answers.

For more information specifically about PGS, please visit our website.


  1. Mayo Clinic. Accessed April 17, 2015.
  2. Office of Women’s Health, U.S. Department of Health and Human Services, Infertility Fact Sheet. Accessed April 17, 2015.
  3. Centers for Disease Control and Prevention. 2012 Assisted Reproductive Technology: Fertility Clinic Success Rates Report. Accessed January 20, 2015.
  4. Fertil Steril. 2012 Sep;98(3):675-80. doi: 10.1016/j.fertnstert.2012.05.025. Epub 2012 Jun 7.
  5. Reproductive BioMedicine Online. 2013 Aug;27(2):140–6.
  6. Mol Cytogenet. 2012;5(1):24.

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