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Genetic Testing

PGT

Preimplantation Genetic Testing (PGT) is a way to do genetic tests on embryos before their transfer into the uterus during in vitro fertilization (IVF). The main goal of these tests is to identify embryos with genetic abnormalities to increase the likelihood of a successful pregnancy while reducing the risk of transmitting inheritable conditions. PGT is categorized into three types:
  1. PGT for Aneuploidy (PGT-A): This test screens embryos for whole chromosome abnormalities, such as trisomy or monosomy, which are common causes of miscarriage and implantation failure.  While PGT-A can improve outcomes in certain populations, its routine use in all IVF patients remains a subject of debate.   It has distinct advantages in age related infertility and recurrent pregnancy loss. 
  2. PGT of Monogenic Disorders (PGT-M):  This test targets specific single-gene mutations associated with known genetic disorders within a family such as cystic fibrosis, sickle cell disease, and spinal muscular atrophy.  It is beneficial for individuals with a known family history of these conditions as well as single gene abnormalities that have been identified through genetic carrier screening   However, PGT-M cannot identify a new mutation or all single gene mutations.
  3. PGT for Structural Rearrangements (PGT-SR):  This test is used when one or both parents carry a structural chromosomal abnormality (e.g., translocations or inversions) to assess whether their embryos have inherited these rearrangements.  It is important to note that PGT-SR cannot distinguish between embryos with balanced rearrangements and those that are normal.

An emerging challenge in PGT-A is the detection of mosaicism, where an embryo exhibits a mixture of normal and abnormal cells. The clinical significance of mosaicism appears to be much more complex than initially thought. Some mosaic embryos have resulted in genetically normal children.

Given these complexities, we believe it is essential to provide comprehensive genetic counseling to patients considering PGT. At Ohio Reproductive Medicine, counseling includes discussions about the benefits and limitations of PGT and the possibility of false positive and negatives. This counseling extends both pre-IVF and follow-up discussions once results are available. We collaborate with genetic counselors and specialists to ensure that our patients receive accurate information and support in making informed decisions about their reproductive options

Patient Testimonials
Ross Gordon
Patient

"Dr. Rossi is a thoughtful, encouraging professional to have along your journey. We were very fortunate to land in her care following Dr. Williams' retirement. We have had our struggles like many, but have always felt in good hands with Dr. Rossi. She is truly an ally as every patient deserves. Thank you!"

Jessica Hartman
Patient

"Over the course of my treatment, I met with all 4 doctors on several occasions. All of them were wonderful, compassionate, knowledgeable, and professional. They offer weekend and holiday appointments to meet your needs. I welcomed my sweet daughter last year thanks to the staff at ORM."

Chelsea Beach
Patient

"Thank you to Dr. Rossi and her nurses for helping us through secondary infertility. Dr. Rossi is so knowledgeable, personable and I felt that she really cares. We had success here and I would recommend her to anyone."

Andee P.
Patient

"I received excellent care from all the physicians involved in my care. I can’t say enough about the fabulous nursing staff, every call was returned promptly and my concerns addressed thoroughly. Desired outcomes achieved!"

Kristy
Patient

"This fertility clinic is very knowledgeable and practices utilizing the most recent research. The physicians are caring and kind particularly when procedures are not effective. I would highly recommend this physician group. My experience with Dr. Grant Schmidt and his nursing staff was wonderful."

Learn More about Ohio Reproductive Medicine

If you would like to learn more information about preimplantation genetic diagnosis and family balancing, please contact our Ohio Reproductive Medicine team. We will work with you to understand your family needs, and discuss family balancing in its entirety with you.

At Ohio Reproductive Medicine, you are our top priority. We strive to provide you with a warm, welcoming team and comforting atmosphere at our office. In addition, we give you the tools and resources needed to achieve your ultimate goal—parenthood. Contact us today to learn more about Ohio Reproductive Medicine’s unparalleled treatments and services.