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Preimplantation Genetic Testing

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advanced genetic technologies

Genetic Testing & Counseling Services

Types of Genetic Testing Available

Preimplantation Genetic Testing (PGT) is the testing of embryos for genetic diseases and chromosomal disorders. We offer PGT-A and PGT-M. The genetic laboratories which are utilized by Advanced Fertility Care all offer screening for chromosomal abnormalities on all 24 chromosome pairs which can provide information on translocations (abnormal placement of chromosome materials) as well as aneuploidy (abnormal number of chromosomes).

In your consultation, your physician will discuss the pros and cons of utilizing this genetic testing as it pertains to your specific circumstances and whether to include it in your treatment plan .

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Advanced Fertility Care

Genetic Testing FAQ

What is PGT-A?

Preimplantation Genetic Testing – Aneuploidy (PGT-A) helps identify embryos that are most likely to implant and result in a successful pregnancy and also reduces the chance of having a child with extra or missing chromosomes which could cause disorders such as Down syndrome During PGT-A, embryos created through IVF are biopsied and screened for all 46 chromosomes.

PGT-A also allows for family balancing (elective gender selection) as it identifies the chromosomal sex of the embryo (XX or XY) and this information is provided for those who wish to have it.

Who can benefit from PGT-A?

Many patients undergoing IVF choose to utilize PGT-A with their cycle. At Advanced Fertility Care, about 95% of our IVF patients decide to use PGT-A as a part of their treatment plan. Below are common cases for which PGT-A will be recommended:

  • Later Maternal Age: All women have a risk to have a pregnancy with a chromosome abnormality. This risk increases as a person’s age increases. Prenatal diagnosis by chorionic villus sampling (CVS) or amniocentesis to test for chromosome abnormalities, such as Down syndrome, is also available post-conception, however, PGT-A enables patients to determine risk prior to implantation of embryos. There are many recent and ongoing studies that have indicated a significant increase in overall pregnancy outcomes for women over age 35 who utilize PGT-A technology in conjunction with IVF. For women under age 35, PGT-A is still an option, especially for family balancing reasons.
    For those with a good prognosis, the overall benefit to increased pregnancy outcomes is still considered controversial. If you are interested in considering PGT-A with IVF, we encourage an open discussion with your physician regarding the pros and cons for your particular situations
  • Recurrent Pregnancy Loss: About 50% of first trimester miscarriages are due to a chromosome abnormality. This may be related to a woman’s age or a rearrangement in a parent’s chromosomes that predisposes the couple to conceive pregnancies with chromosome abnormalities. PGT-A can be performed for either of these possibilities.
  • Prior Pregnancy With Chromosome Abnormality: Patients that have had a previous chromosomally abnormal pregnancy have an elevated risk for a similar problem to occur again in any subsequent pregnancy regardless of maternal age.
  • Several Failed IVF Cycles: Some cases of IVF failure are due to the transfer of embryos with chromosome abnormalities. PGT for aneuploidy minimizes the likelihood of a chromosome abnormality in a future pregnancy and increases the chance of achieving an ongoing successful pregnancy.
  • Family Balancing (also known as Sex Selection): For families that wish to have additional children of a particular gender after already having a previous child, PGT-A allows for the selection of embryos to transfer based on gender. While not perfect, embryo biopsy with genetic chromosome determination prior to the transfer of embryos can allow families a choice in how they expand the family.

What is PGT-M?

Preimplantation genetic testing for monogenic disorders (PGT-M) is testing administered on embryos that can determine whether a heritable genetic mutation is present. PGT-M was previously called preimplantation genetic diagnosis (PGD). This test looks for diseases caused by a mutation in a single gene, and it is offered to families with a known genetic mutation. That risk may have been discovered through routine genetic screening, such as carrier screening, or because one parent or family member already has a known genetic diagnosis.

Who can benefit from PGT-M?

Not all patients that undergo IVF need PGT-M. There are a number of factors that help determine whether genetic embryo screening may be of benefit. PGT-M is only offered to those with the possibility of passing on an inherited genetic condition.

PGT-M can benefit those with a known family history of a genetic disease or for structural chromosome rearrangement or particular genetic diseases such as Cystic Fibrosis, Huntington’s Disease, and Tay Sach’s Disease. There are actually hundreds of known genetic diseases which we are able to screen for and this number is increasing all the time as the human genome project continues.

What Are the Steps With PGT?

Patients who need PGT-A or PGT-M will undergo a typical IVF cycle at Advanced Fertility Care. After the patient’s eggs are retrieved, they are fertilized with the husband’s or donor sperm in the laboratory. The lab waits for fertilization to occur and lets the embryos develop for 5 to 6 days into the 80-100 cell blastocyst stage. At the blastocyst stage, our embryologist will remove three to four cells from each embryo after creating a precise microscopic hole in the outer shell with a laser (embryo biopsy) and then prep these cells for secure transport to a specialized genetic reference lab for the chromosomal analysis. The embryo-specific results will then be communicated back to the embryologist and physicians at Advanced Fertility Care.

Once chromosomally normal embryos are confirmed, patients will then be coordinated for a frozen embryo transfer after appropriate ovarian suppression and uterine preparation using hormonal stimulation. The frozen embryo transfer can occur as soon as 5-6 weeks after initial egg retrieval but this is dependent on several factors. In most cases, Advanced Fertility Care Physicians will subsequently only transfer at the most two blastocysts and in most cases, recommend the transfer of one chromosomally tested normal blastocyst in order to avoid the increased risk of higher-order multiples.

Costs of PGT-A or PGT-M

In addition to the cost of the IVF procedure used to retrieve eggs and create the embryos for testing, there are two additional components that contribute to the overall costs of performing genetic testing on embryos. The first cost is the actual cost of the technique and time for the embryologist to biopsy (remove cells from) the embryos. The second cost is that of the genetic analysis of the cells that are sent to the genetics laboratory.

Since every situation may be unique, we encourage you to call our office in order to discuss the costs that would pertain to your specific situation.

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“Thank you to Dr Zoneraich, Dr Larsen & everyone at Advanced Fertility care for helping to bring our little miracle into the world! We are so grateful to have this wonderful child in our lives & it would not be possible without your expertise and care. We are so happy and feel incredibly blessed… Thank you!”

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“We cannot say enough about AFC. We started our infertility journey at another practice and had a horrible experience. After starting with AFC, everything changed. Dr. Larsen took time to listen and was truly aware of our needs and feelings. We cannot thank him enough. We have a beautiful son and are over the moon.“

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“Thank you for all you have done for us, you are an amazing group of people and we couldn’t be happier that we chose you to take us through this process.”

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“There are no words to truly express how much we appreciated your kindness during our time working with you. You are truly in our hearts each time we look at our son. Thank you.”

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"My wife and I have been trying for over six years to start a family, starting with trying naturally of course, IUI, IVF, and 3 transfers prior to meeting with Dr.Z and the Advanced Fertility team. We wanted to give it one more shot and were lucky enough to have a family friend offer to be a carrier, as well as try one more time with my wife as well. We felt very comfortable right off the bat. We had worked with 2 other fertility centers in Phoenix and Scottsdale prior. This team made us feel welcome and laid out a game plan and set our expectations and were very clear and realistic. Our wait times were non existent compared to another major facility where we did our first IVF, their avg wait 30-60 mins. We were not sold or told that they guaranteed to fill our house with kids like we heard verbatim at other establishments."

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"We wanted to introduce you to our little miracle baby girl. She has blessed us in so many ways already. We want to say thank you to everyone at the office. You were all great during every step. You made IVF seem not so intimidating and then when we found out we were pregnant between treatments you were with us from the beginning until we saw her little heartbeat on ultrasound. A “BIG” thank you to Dr Z. You are great and so personable. You all can expect to see us again in a year or so."

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"We cannot say enough about AFC. We started our infertility journey at another practice and had a horrible experience. After starting with AFC, everything changed. Dr. Larsen took time to listen and was truly aware of our needs and feelings. We cannot thank him enough. We have a beautiful son and are over the moon."

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"We’ve been on our infertility journey since 2009. Advanced Fertility Care is the 4th fertility Drs office we went to. We LOVE them! I will never go anywhere else. They are the whole package. In our early experiences with other offices, we found the hands off approach frustrating. We saw Drs at consultations but all treatments and ultrasounds were done by nurse practitioners. Decisions were frequently made by nurse practitioners. We thought this was normal care – it’s not! I have never been seen by a nurse practitioner at Advanced Fertility Care."