Preimplantation genetic diagnosis (PGD) or screening (PGS) 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 the PGD or PGS 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
"Dr long and his staff are absolutely amazing! He is so hands on and helps you understand everything!"- C.A. / Google / Apr 14, 2018
"Dr. Long is amazing! We started seeing him at Brookwood in 2014 for our fertility issues. When we heard that he opened up his own practice, we followed him there. He has the perfect balance of knowledge, bedside manner and sincerity that we look for in a doctor. He has not given up on us and that is a major plus!"- R.G. / Google / Apr 05, 2018
"My experience with Dr. Long has been nothing short of amazing. His expertise and bedside manner are the best I have ever experienced and he is always willing to go above and beyond to be available and attentive to any questions or problems for patients. His office staff is truly the friendliest and it feels like you are their only patient whenever you are there. I love Dr. Long and am so thankful to be one of the many patients he has helped!"- R. / Healthgrades / Feb 22, 2018
"Dr. Long is the best. Truly. His willingness to be attentive and available and make you feel at ease and at home has made for the best experience with a doctor I have ever had. The staff at his office are top-notch and you feel like you are the only patient whenever you are there. If you are dealing with infertility or any issues related to infertility...do not wait! Go see Dr. Long!"- R.F. / Google / Feb 12, 2018
"Dr. Long helped me and my husband get pregnant last year. He figured out exactly what was wrong with me and preformed my hysteroscopy and laparoscopy last April and we had our first and only IUI in May. We got pregnant on our first IUI. We used him at ART and continued to use art for the 12 weeks. Our whole experience was great and wish Dr. Long the best of luck!"- S.E. / Facebook / Jan 06, 2018
In the PGD 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.
Who Should Consider PGD?
The PGD 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 PGD. 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.
Both PGD and PGS testing carry 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 PGD yielding false negative results, which could mean that an affected embryo is transferred to the uterus. As PGD and PGS are both 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 PGD or PGS do not have an increased health risk compared with IVF embryos that are not genetically tested before implantation.
Counseling before PGD 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 PGD 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.
Plan Your Procedure
- Recovery Time
- Average Procedure Time
- 2 Hours
- Post-op Follow-up
- 10 Days
- Procedure Recovery Location
We Find Answers
If you would like to learn more about PGD, we recommend making an appointment at AIRM. We also offer referrals to counseling services for patients going through infertility treatments to discuss PGD with a counselor. Our dedicated team is here to help you make the right decision. Call and schedule an appointment.