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
Total Time: 7 hours
Indications For PGD
Patient at known risk for Heritable Disorders
"Older Patients" (Women>35 yrs old)
Previous early pregnancy loss attributable to Aneuploidy
Genetic Disorders Diagnosed
By PGD
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.
Micro Array Technology
Micro Array is a cutting edge technology that allows screening of all 23 pairs of Chromosomes. While FISH (Fluorescent In-Situ Hybridization) based PGD (Pre-Implantation Genetic Diagnosis) has been the standard in PGS (Pre-Implantation Genetic Screening), only a fraction (3, 5, 7 or 9) of the chromosomes can be looked at with this technology. Reliability and accuracy of these tests have been the major limitation of FISH based testing, and has lead to major controversy over the usefulness of this technology.
Micro Array technology uses a different approach. Gene Security Network, the consulting firm La Jolla IVF uses for this test, uses genetic data from the parents to help interpret the results of each diagnosis of individual embryos. Parental Support™ has been developed by Gene Security Network and uses a sophisticated Bioinformatic Algorithm that significantly increases the test’s accuracy and is superior to previous methods. The biopsy technique is similar to FISH based PGS and results are also reported by Day 5 for a Blastocyst transfer.
La Jolla IVF is proud to have helped Gene Security Network become a pioneer in this method of testing and owns exclusive rights to the San Diego market to license this technology. This is tremendously beneficial to all patients, especially patients that are greater than 35 years of age, patients with a history of recurrent pregnancy loss, or previously failed IVF cycles. Gene Security Network will also in the near future offer single gene disease testing for over 160 different diseases, as well as translocations.
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