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How Preimplantation Genetic Diagnosis before IVF Prevented the Genetic Breast Cancer Risk that Randi Fishman’s Family Faced

After Randi Fishman’s first breast cancer diagnosis, she decided to freeze her embryos, which were tested for the BRCA1 gene. Her sister, Erin, stepped in and elected to be her surrogate. Thanks to genetic testing of the embryos before the transfer to her sister, only the embryos that tested negative for the genetic breast cancer mutation were used. Erin gave birth to a beautiful, healthy baby girl in 2018, completing Randi’s family of four. Read more about Randi’s story: here.

Randi wasn’t choosing eye color or trying to boost her child’s SAT score. She was looking out for the health and well-being of her daughter.

What is Genetic Screening?

Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological.

Shady Grove Fertility supports pre-pregnancy genetic screening (PGS) and preimplantation genetic diagnosis (PGD)–both of which present patients with the ability to protect their future offspring from serious diseases and syndromes. When it comes to genetic selection based on specific traits (eye color, height, etc.), though, SGF does not participate.

In a previous article, SGF’s Chief Medical Officer, Dr. Eric A. Widra, commented on ‘designer babies,’ saying they “take away from the incredible medical benefits that PGS and PGD provide to patients and their future children. Moreover, the ability to find embryos with specific traits that are also chromosomally normal has been dramatically overstated by practitioners and the media. This is a vastly complex field.”

While society will continue to debate the ethical questions related to genetic trait selection for years to come, SGF will continue to advocate for what is best for our patients and their future children. “…There are ethical issues, but we also now have healthy kids running around who might have had a fatal disease,” says Dr. Widra. Patients now have the ability to do something that was never before possible in the history of the human race: protect their future children from mutations that could harm them. Ultimately, it is the patient’s choice as to whether or not they want to undergo PGS or PGD, but we firmly believe that the best decision is a well-informed one.

Patient Success Story

After multiple miscarriages and the tragic death of their newborn child due to kidney disease, an SGF Atlanta couple underwent genetic screening and found out they both carried the same gene mutation. Through PGD, they were able to find two normal embryos and have a healthy baby boy free from kidney disease. Here is a snippet of their raw and inspiring story:

“In the months that followed, some answers we got, Autosomal Recessive Polycystic Kidney Disease (ARPKD) and some will likely never be answered. Everywhere we turned we were faced with grief, emptiness, and longing. The focus on winning in a losing game became an all-consuming obsession, but we held on with all we had to the promise of a family with preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF). Everything was hurry up and wait, it was months for blood test results, months for genetic counseling, months for building a probe, months for retrieval, until finally nearly one year to the day we were transferring 3 beautiful, unaffected embryos. The pain of the progesterone in oil shots was unbearable, not to be lessened by miscarriage at 9 weeks. We couldn’t start the next round of PGD and IVF fast enough.”

“We sought another provider that could help continue to grow our family and found a stronger connection with the team at Shady Grove Fertility, formerly Georgia Reproductive Specialists. In fact, we travelled in excess of 2 hours one way to work with Shady Grove Fertility. We were taken by the knowledge, care, and commitment of Dr. Perloe and his team. From the front desk to our nurses to the financial counselors to genetic counselors and beyond, we were impressed at every turn. Not only did the process seem to move faster than it had prior and the care was outstanding, but we received insurance coverage for the first time in three rounds of IVF, which ultimately made it possible. All thanks to the hard work and diligence of our friends at SGF. Despite the disappointment of one last miscarriage, we were pregnant shortly after. In May 2017 we welcomed a healthy son, our 3rd child known to this world and 7th known in our hearts.”

Read – More Genetic Testing Patient Success Stories:

Andreia and Thomas

Mackenzie and Michael

Pre-Pregnancy Genetic Screening:

Today, it is customary for OB/GYNs to recommend pre-pregnancy genetic screening (also called carrier screening) to their patients as part of routine pre-pregnancy counseling. Shady Grove Fertility is also an advocate of genetic screening when planning for pregnancy and offers genetic screening for more than 100 different diseases and syndromes. Shady Grove Fertility strongly recommends pre-pregnancy genetic screening due to its benefits to patients and their future children. The insights gained by testing both partners before conception occurs offers the ability to identify possible genetic diseases that may be passed on to future offspring. If a genetic disease is found, the couple has the option to use in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) to avoid passing that disease onto their child(ren) by selected unaffected embryos.

In the past genetic screening was very expensive and as a result out-of-reach for most patients. Over the last few years, advances in screening technology have allowed patients the ability to be screened for over 100 genetic diseases at a low out-of-pocket cost to patients. As a result, more are taking advantage of this testing.

Genetic Testing of Embryos

Preimplantation genetic diagnosis (PGD) is a revolutionary medical treatment that reproductive endocrinologists hail as one of the most significant advances in the field of reproductive medicine. Physicians use this technique, which involves the biopsy of a few embryonic cells, in conjunction with IVF. This allows for the differentiation of healthy embryos and genetically-abnormal embryos, without causing any harm to the embryos.

 

Read: Family Planning for People with Known Genetic Diseases

SCHEDULE AN APPOINTMENT

To learn more about genetic testing or to schedule an appointment with an SGF reproductive endocrinologist, please call our New Patient Center at 1-887-971-7755 or click here to complete this brief online form.

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