Preimplantation Genetic Diagnosis (PGD)

Baylor Medicine offers preimplantation genetic diagnosis, or PGD, to test embryos conceived through in vitro fertilization (IVF) that may be at risk for certain hereditary genetic conditions. After the IVF fertilized eggs reach the cleavage stage (8-cell) one or two cells are removed and tested for a genetic disease. The unaffected embryos are transferred.

PGD offers an alternative for couples with single-cell gene defects who would otherwise depend on prenatal diagnosis to determine the genetic status of their pregnancy. In addition, since only genetically normal embryos are transferred to the uterus, many couples have been able to avoid clinical pregnancy termination. Worldwide, more than 1,000 babies have been born following PGD.

Since 1995 our PGD services have helped deliver healthy babies to couples who were at increased risk for any single gene or chromosome disorder. PGD also improves the pregnancy rate for couples with repeated miscarriages or IVF failures.

Conditions that our PGD services can test for include:

• Chromosomal translocations of any type
• Cystic fibrosis
• Numerical chromosome abnormalities (aneuploidy)
• Rh disease
• Rhizomelic chondrodysplasia punctata
• Sickle cell anemia
• Spinal muscular atrophy
• Adrenoleukodystrophy
• Charcot Marie tooth disease
• Fragile X syndrome
• Gaucher disease
• Myotonic dystrophy
• Norrie disease
• Von Hippel Lindau disease

The Baylor PGD program coordinator and the genetics team work closely with patients throughout the process of IVF/PGD. Patients are initially evaluated by a genetics counselor, and when necessary, additional tests are ordered. Once all medical information and insurance details are complete, patients meet both with the Genetics team and our IVF team. An IVF/PGD cycle is then set out for the patient. Out-of-town patients can be monitored in their home location, but biopsy and genetic analysis must be completed in Houston.