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One Genetic Test Helps Couple Create Two Miracles

How one couple’s determination changed repeated loss into their greatest success

Never giving up is one way to succeed. After four strenuous years of constant infertility heartache and several unsuccessful treatments, Rebecca and her husband Jeff weren’t ready to give up. Even three miscarriages didn’t get in the way of their hope of becoming parents.

Four years ago, Rebecca, a 35-year-old Chattanooga woman, and her husband tried conceiving for six months before they decided to seek the help of a fertility specialist. Choosing the right clinic that was going to help them create a family together was very important. After researching, they decided to visit two clinics.
The first clinic Rebecca and Jeff visited wanted to immediately begin in vitro fertilization (IVF) treatment, the process of fertilization by manually combining an egg and sperm in a laboratory dish, and then transferring the resulting embryo to the uterus. IVF is the most successful assisted reproductive treatment, and it’s the most expensive.

“We wanted to know if other options were available,” says Rebecca. “That clinic didn’t encourage other treatment options.”

Tennessee Reproductive Medicine was the second clinic they visited. Dr. Rink Murray explained different options and suggested preliminary testing to determine the cause of infertility. He wanted to begin with the testing to see if they could glean any information before considering IVF treatment.

“We felt comfortable with Dr. Murray and appreciated how he wanted to take his time varying our options,” Rebecca says. “We ultimately choose TRM for treatment because of their openness, hospitality and true desire to find a resolution and help us obtain our parenting dreams.”

Four tries and an answer

During preliminary testing, Dr. Murray found a MTHFR (methylene tetrahydrofolate reductase) gene mutation from Rebecca’s blood work. An MTHFR mutation can contribute to or exacerbate problems with the child, such as autoimmune disease, mental development issues and more. Dr. Murray also found that Jeff had a low sperm count. They tried intrauterine insemination (IUI), which involves the washing, concentrating and placing of Jeff’s sperm directly into Rebecca’s uterus. It worked and Rebecca became pregnant however, she miscarried at eight weeks.

“My insurance covered three more IUI treatments, so we tried it three more times. No luck. We were frustrated,” explains Rebecca.

Rebecca and Jeff were determined not to give up on starting a family of their own. They pursued IVF. Rebecca became pregnant on the first try, but miscarried that week and it was too early to determine the cause.

The next IVF cycle was done without retrieving more eggs, because Rebecca had frozen embryos from her first IVF cycle. Two of the embryos were transferred to her uterus and resulted in pregnancy. Around nine weeks, Rebecca again miscarried.

Heartache took hold of Rebecca and Jeff, and for the first time, the thought of a future family was dim.

Because the miscarriage happened at nine weeks, however, TRM was able to test the placental tissue. Dr. Murray discovered the miscarriage was caused by a chromosomal abnormality.

Genetic test for the best embryos

“There is further testing,” Dr. Murray told Rebecca and Jeff. He suggested the genetic test of embryos called preimplantation genetic screening (PGS). PGS is used with an IVF cycle to increase the chances of implanting a healthy embryo, free of genetic abnormalities. After the male’s chromosomes (in sperm) are paired with the female’s chromosomes (in the egg), the resulting embryo provides the complete picture of its chromosomal makeup, expressing traits that a child will have.

Without PGS Rebecca and Jeff might still be hoping for a family.

The PGS Difference

Fertility specialists use the PGS genetic test to help identify genetic defects before deciding which embryo to implant into the mother. As many as 40 percent of IVF embryos have genetic abnormalities that cause implantation failure, miscarriage or the birth of a child with a genetic disorder.

There was the risk that none of embryos tested would be genetically normal, but Rebecca and Jeff were willing to give it a shot.

The ethical concerns in a genetic test of embryos

PGS and preimplantation genetic diagnosis (PGD) may arouse social and ethical concerns for those weighing their options. This form of testing can be used to screen embryos for non‐medical traits such as gender. The idea that a doctor and patient(s) choose an embryo(s) is not acceptable to some people.

“Despite the social and medical worries, we weren’t willing to throw in the towel. After three miscarriages the hope of having a family was much greater than the thought of giving up,” says Rebecca. “Our families were behind our decision to move forward with PGS testing, and that support gave us the extra push we needed.”

The next step was having seven embryos examined for chromosomal composition. An embryo biopsy for this genetic test is taken three to fives days into embryonic (blastocyst) development to examine all 24 chromosomes ahead of the embryo transfer. This test can determine if there is a chromosomal abnormality such as aneuploidy (embryos having the wrong number of chromosomes, which can result in a child with Down syndrome, for instance), translocations (chromosomes arranged incorrectly), or other alterations.

Testing for all 24 chromosomes improves pregnancy and live birth rates by only implanting chromosomally normal embryos.

Nervous, scared, unsure

Rebecca sent seven frozen embryos for testing. Nervous, scared and unsure of what the future held, Rebecca and Jeff went on vacation before they knew the results.

Once they returned, they were welcomed with a phone call from the embryologist who conveyed that they had three “normal embryos.”

Hope settled in for good and the couple decided to transfer two embryos instead of one. Though previous treatments were ultimately unsuccessful, Rebecca had gotten pregnant by implanting two embryos each time.

With PGS, this time Rebecca and Jeff knew the sex of each embryo, two males and one female embryo. They chose to implant one of each sex and prepared for what was to become their last IVF transfer.

Once again, Rebecca became pregnant. Around eight weeks, Rebecca and Jeff went to TRM for their first ultrasound visit. Rebecca says the four years of their journey to become parents had been exhausting, frustrating and painful. But their determination prevailed.

The ultrasound revealed two heartbeats. Rebecca and her husband were going to be parents.

TRM and Dr. Murray had made them comfortable from the very beginning and addressed each concern with care and sensitivity.

“I can’t say enough about TRM and their staff. Dr. Murray was the reason why we continued treatment,” explains Rebecca. “He was our biggest resource and assured us when times were hard. He also guided us through the difficult scientific wording that made things confusing to understand and made treatment more approachable.”

According to the couple, in the end it was all worth it—the miscarriages, the treatments, the days of fading hope. Rebecca and Jeff were particularly thankful for the additional PGS testing that made the difference in bringing home two children of their own.