Healthier Families, from the Start

Why should I be concerned about genetic disease?

Almost everyone knows someone or a family with someone or entire families who suffer from a genetic disease. Living with a genetic disease like Cystic Fibrosis, Hemophilia, Downsyndrome, Muscular Dystrophy or one of thousands of others can be very difficult for the individual and for their family. In addition to the emotional burden, genetic disease is very costly. Studies have shown that raising a child with a genetic disease can exceed $5-10 million- but also to the government that funds much of their care through disability and Medicaid payments.

How can genetic disease be prevented?

Genetic screening and counseling can predict genetic disease risk in future children and give prospective parents the probability that a future child will have genetic disease. If probability is high, couples either choose not to have children or hope that there is no genetic disease. After pregnancy has begun there are also tests that can be performed (amniocentesis, chorionic villous sampling, and cell free DNA) to determine if the baby in the mother’s womb has a genetic disease. Studies have shown that if disease is found in that pregnancy, over 90% elect to terminate the pregnancy.1 PGD (pre-implantation genetic diagnosis) is evolving technology which allows diagnosis of genetic disease in individual human embryos before they attach to the mothers womb-before they become an established pregnancy.

What is PGD?

With pre-implantation genetic diagnosis (PGD), testing for genetic disease can be done before the fertilized egg attaches to the uterine wall. Today, the only way embryos can be retrieved for testing is through in vitro fertilization (IVF). With IVF, unfertilized eggs are surgically removed from the woman’s ovaries and then artificially fertilized in a laboratory dish with her partner’s sperm. When the fertilized egg has grown in vitro to as early as day 3 (8 cells), one or two cells are removed for PGD. Due to the early development of day 3 embryos, some are fatally damaged when cells are removed. Although better results might be obtained from embryos that are more advanced (16-32 cells or hundreds of cells such as at the blastocyst stage), it may be difficult to culture them to advanced stages due to the technical limits of in vitro embryo culturing techniques.

How is Previvo technology different from PGD done with IVF?

Previvo technology allows for the natural (in vivo) conception of day 5 embryos (called blastocysts), which have 100-300 cells (called blastomeres). Whereas IVF developed embryos typically have 8 cells when PGD is performed.

What is the cost of Previvo screening?

Cost will be determined by provider clinics, however we anticipate this procedure will provide a solution that is lower in overall cost to current options in the marketplace today.

Can you give me a better understanding of the terms used in PGD and genetic testing?

Please visit our glossary of terms.

1. Quadrelli R, Quadrelli A, Mechoso B, Laufer M, Jaumandreu C, Vaglio A. Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available. Prenat Diagn. 2007 Mar;27(3):228-32.