This cutting-edge technology enables embryos prior to implantation to be tested for genetic or chromosomal conditions (such as Cystic Fibrosis or Downs Syndrome). PGD is based on the ability of human preimplantation embryos to continue their development into pregnancy after embryo biopsy of one or two blastomeres at the six to eight cell stage, usually three days after fertilization.

From 2004 to present (July 2007), there has been an increase in the number of patients at La Jolla IVF who wished to utilize PGD. Patients of advanced maternal age are interested in having the chromosomal integrity of their embryos analyzed because chromosomal abnormalities in the offspring of older mothers are more likely to occur. Also some of our patients who experienced prior pregnancy loss want their embryos tested because chromosomal abnormalities are the most common cause of miscarriage. From time to time we also have patients with a family history of inherited genetic disorders who need to have their embryos analyzed to exclude any affected embryos being transferred.

In our hands, PGD has proven to be an extremely valuable tool to increase pregnancy and live birth rates. In 2006 we performed 120 PGD procedures with a pregnancy/live birth rate of 65%. We are on course to double this number of PGD procedures in 2007 and we are in track to match if not better the previous year's pregnancy live birth rate.

This emerging technology is enabling thousands of couples around the world to fulfill their dreams of having healthy offspring.

PGD-Fish "Timeline"

• Biopsy of embryos takes about an hour


• Slide fixation of blastomer about an hour


• Hybridization/chromosome "painting" about 3 hours


• Evaluation/creation of report-two hours

Indications For PGD

• Patient at known risk for Heritable Disorders


• "Older Patients" (Women>35 yrs old)


• Previous early pregnancy loss attributable to Aneuploidy

• Cystic Fibrosis


• Duchenne Muscular Dystrophy


• Hemophilia A
  
  
• Retinitis Pigmentosa


• Tay Sachs Disease


• Sickle Cell Anemia


• Thalassemias


• 119 Others

Chromosomal Disorders Diagnosed By PGD

• Autosomal Trisomies (i.e., Down's Syndrome)


• Autosomal Monosomies


• X, Y Numerical Disorders (Turner Syndrome, Kleinfelter's Syndrome)


• Translocations (Reciprocal or Robertsonian)


• Deletions

Conclusions

• During IVF/ET, Over 50% of morphologically normal (looks normal under the microscope) day 3 embryos were aneuploid (abnormal) on PGD analysis.


• Expanding the Indications for PGD-Evaluated embryos might improve pregnancy rates for patients undergoing IVF/ET.

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