Pre-implantation genetic diagnosis and screening (PGD/PGS) may be recommended during in vitro fertilization (IVF) to screen embryo(s) for certain genetic diseases or chromosomal abnormalities.

Once an egg is fertilized and grows into an optimal number of cells, a biopsy of the embryo(s) is performed and cells are removed to be analyzed for potential genetic conditions. This process allows for the selection of the healthiest embryo(s) for transfer; selection is also possible based on gender balancing.

Michael Guarnaccia, MD, associate professor of obstetrics and gynecology at CUMC, founded the Pre-implantation Genetic Diagnosis Program at CWRC in 2004, and has continued to direct the program, employing the latest technology to assist families grappling with potentially life altering inherited genetic diseases. He has a special interest in pre-implantion genetic diagnosis, fertility preservation, and all aspects of infertility care.

“These procedures may be appropriate for patients who are known carriers of genetic diseases, have a history of multiple miscarriages (recurrent pregnancy loss), or have repeated IVF failures with no identifiable causes,” says Dr. Guarnaccia. “PGD/PGS provides valuable knowledge and diagnosis to our doctors and genetic counselors to ensure proper treatment and care for the patient.”

PGD is used to test for single gene diseases that are inherited from one or both of the parents. Some of these disorders include sickle cell anemia, cystic fibrosis, and Huntington’s Disease. PGS uncovers chromosomal abnormalities that may cause a miscarriage or IVF failure, or a trisomy such as Down Syndrome.

“These procedures may be appropriate for patients who are known carriers of genetic diseases, have a history of multiple miscarriages (recurrent pregnancy loss), or have repeated IVF failures with no identifiable causes,” says Dr. Guarnaccia.

These treatments are done in conjunction with IVF to evaluate the embryos for the presence of genetic and/or chromosomal abnormalities prior to placement back into the uterus during an IVF cycle.

The PGD/PGS program is offered to couples who carry or are at risk of transmitting pre-existing genetic and chromosomal abnormalities to their offspring. The PGS program is also done as a method to optimize the implantation and pregnancy rates in otherwise genetically and chromosomally normal couples undergoing IVF.

“At CWRC, we will work with you before and after PGD/PGS to help you make the most informed decision possible,” says Dr. Guarnaccia.

CWRC is pleased to offer the most advanced procedures available from our experienced and exemplary faculty at CUMC. Our physicians are happy to discuss your individual needs and the comparative advantages of these treatment options with you.

To learn more, call (646) 756-8294.