Preimplantation genetic testing (PGT) can be a sensitive subject for many couples going through in vitro fertilization (IVF) or other assisted reproduction procedures. This is especially true for a patient who is a known carrier of a genetic disorder or has a genetic disorder. At the America Institute of Reproductive Medicine – Alabama (AIRM), we offer our support to couples making the decision to test before implantation. Choosing to have a PGT means that our board-certified reproductive endocrinologist, Dr. Cecil A Long, will test the embryo for a variety of genetic disorders before implantation into the uterus. He also recommends genetic testing for embryos of parents without known genetic or chromosomal conditions.
Why is this important? Some genetic disorders can decrease the viability of the pregnancy. If you have an embryo positive for certain genetic disorders, it increases the chance of a failed implantation, an early miscarriage, or an unsuccessful pregnancy.
The preimplantation genetic tests can identify many inherited disorders, including:
- Cystic fibrosis
- Sickle cell anemia
- Tay-Sachs disease
- Duchenne muscular dystrophy
- BRAC 1 and BRAC 2 gene mutations
- Fragile X syndrome
- Huntington’s disease
- Hemophilia A
"After 8 years of infertility, including 7 miscarriages, 2 pre-term labors, failed inseminations and multiple failed IVF--traveling all over the country to see the "best" fertility specialists, we met Dr. Long. As I type this, I hear my twin daughters playing in the background, and I have tears in my eyes."- Anonymous / RateMDs / Aug 21, 2011
"Dr. Long and his entire team at AIRM are a special group of people. They truly care about each of their patients and make us all feel like we are the only ones in the practice. They care about us and their goal is to help make miracles happen - which they do every day. I previously went to another clinic in Birmingham and I have to say the patient experience is night and day in every way possible. From the front desk, to billing, to patient care - this group has been such a blessing. I am so grateful to have a practice with a brilliant Nurse Practitioner, Dr. Karen Hammond, to help guide us through our infertility struggles. Dr. Hammond and Dr. Long are the perfect pairing and I can't say enough good things about AIRM."- Anonymous / RateMDs / Jun 05, 2019
"Dr Long was able to diagnose the cause of my infertility, treat it with the required surgery, and perform 1 IUI to achieve pregnancy. The whole process was so quick but also done with such kindness and care. Once pregnancy was achieved he monitored it so closely and it felt like he cared as much as I did. I felt completely safe in his care. And his entire staff is wonderful! They knew my husband and I by name. Can’t say enough good things!"- Anonymous / RateMDs / Jun 04, 2019
"Dr. Long and AIRM truely care about their patients. Their reproductive clinic shows kindness and empathy to patients in an unparalleled manner. Staff members quickly respond to questions and attend to each patient's individual needs."- Anonymous / RateMDs / Jun 03, 2019
"10 years of infertility and multiple doctors - My husband and I saw other fertility specialists both in Birmingham and around the country before going to see Dr. Long. We had been told that we needed an egg donor and possibly a sperm donor by 2 other Drs., but Dr. Long said he felt like we could get pregnant with our own eggs/sperm. He was absolutely right! I'm listening to my 3 year old twins as I type this!! We saw his partners, Dr. Allemond and Dr. Honea, for procedures that fell on the weekends, and I felt comfortable with them as well. I've yet to meet a former patient of Dr. Long who didn't end up having a baby."- Anonymous / Vitals / Apr 10, 2013
In the PGT test, an embryologist will biopsy the embryos created during an IVF cycle on day 5 or day 6 of development, and determine which embryos are unaffected by the genetic disorder present in the patient’s medical history. During embryo transfer, only the unaffected embryo(s) would be placed in the woman’s uterus. The other embryos can be frozen, stored, used in research (with the patient’s approval), or destroyed along with the embryos showing a genetic disorder.
Genetic testing will reveal the sex of each embryo, making it possible to reduce the risk of passing on sex-linked conditions, such as Duchenne muscular dystrophy. According to the Ethics Committee of the American Society for Reproductive Medicine (ASRM), the only acceptable use of preimplantation sex selection is when trying to avoid passing on a known, sex-linked genetic disorder.
What Tests Are Offered?
Preimplantation Genetic Testing can be divided into three subcategories to better explain the different tests available to evaluate embryo.
PGT-A: Preimplantation Genetic Tesing for Aneuplodies (previously known as PGS or Preimplantation Genetic Screening) evaluates if the embryo has the appropriate amount of genetic material. This means it evaluates the number of chromosomes formed by the cell’s DNA.
PGT-M and PGT-SR: These tests (previously known as PGD or Preimplantation Genetic Diagnosis) look for particular abnormalities within the embryo. PGT-M tests evaluate monogenetic/single-gene disorders. PGT-SR tests seek specific chromosomal structural rearrangements.
Who Should Consider PGT?
The PGT is a good guide to a couple’s risk of having and passing on a genetic disorder. The geneticist should be able to identify if the man, woman, or both are at risk for carrying a genetic disorder. If a heritable condition is known in the patient’s family, or if a previous child was born with a genetic disorder, a couple may consider PGT. This can help minimize the risk of passing on the condition, as well as the risk of implantation and/or pregnancy failure before live birth.
Single gene disorders can be inherited mutations known to cause a disease, such as cystic fibrosis. Gene disorders can also cause a specific characteristic due to abnormalities in chromosome structure, such as gender-related problems or the inherited genetic BRAC 1 and BRAC 2 gene mutations that predispose a woman and her offspring to breast and ovarian cancer. Parents do not have to have a genetic disease or characteristic to pass it on to their offspring. Consequently, many people are not aware that they are at risk for carrying a genetic disorder. Usually, parents have a discussion with a geneticist about the family background of each parent, identifying instances of genetic disorders in current or previous family members. The geneticist will gather information into a family tree type diagram, indicating genetic disorders from one generation to the next.
Preimplantation Genetic testing carries a small risk of harming the embryo(s) during the test or the required freezing process. Genetic testing is currently unable to screen for all known genetic conditions, so there is no guarantee that a tested embryo will lead to a healthy baby. There is a small risk of PGT yielding false negative results, which could mean that an affected embryo is transferred to the uterus. As PGTs are performed as part of the IVF process, patients would also be susceptible to the risks involved in IVF. However, studies show that embryos biopsied for PGTs do not have an increased health risk compared with IVF embryos that are not genetically tested before implantation.
Counseling before PGT is recommended, as it involves complex issues that affect people in different ways. For example, children born from embryos with an inherited genetic disorder may not ever develop the disorder, which can mean that an embryo was destroyed unnecessarily after PGT revealed a genetic defect. A woman with the BRAC 1 or BRAC 2 gene mutation, predisposing herself and her offspring to breast and ovarian cancer, can benefit from discussing this issue with a genetic counselor who can guide her in the decision whether or not to destroy an affected embryo.
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- Average Procedure Time
- 2 Hours
- Post-op Follow-up
- 10 Days
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If you would like to learn more about PGT, we recommend making an appointment at AIRM. We also offer referrals to counseling services for patients going through infertility treatments to discuss PGT with a counselor. Our dedicated team is here to help you make the right decision. Call and schedule an appointment.