Identify SGD Preimplantation Genetic Diagnosis

Identify SGD Preimplantation Genetic Diagnosis

Preimplantation embryo testing for single-gene disorders

What is the Identify SGD test?

IdentifySGD is a preimplantation (before embryo transfer) genetic test that can be of benefit to prospective parents who are at increased risk of having a child with a single-gene disorder. The identifySGD test was created by and is performed by the Foundation for Embryonic Competence, which is a leading center for embryonic testing, research, and education.

What are single-gene disorders?

A single-gene disorder (SGD) is a condition that is caused by a known change (or mutation) in one of more than 20,000 genes found in nearly every cell of the human body. The disorder may be inherited through one or both parents who are carriers of the gene mutation. Some examples of single-gene disorders are:

  • Cystic fibrosis
  • Fragile X syndrome
  • Sickle cell anemia
  • Spinal muscular atrophy
  • Tay-Sachs disease

How does IdentifySGD work?

IdentifySGD is a unique test that is designed to detect specific genetic changes associated with a single-gene disorder in an embryo before transfer, as part of an in vitro fertilization (IVF) cycle. By the end of the IdentifySGD process, you and your IVF team will be able to make better decisions about which embryos should be considered for IVF transfer based on their genetic makeup.

The IdentifySGD test consists of two distinct phases: The Validation Phase (steps 1-4), which is a preparatory process during which a custom test is created for your family, and the Biopsy Phase (steps 5-8), when cells from your embryos are tested before selecting embryos for implantation.

The testing process

Which disorders can be identified through testing?

IdentifySGD can detect nearly all single-gene disorders, with some rare exceptions. It is also possible to test for more than one disorder at a time. To date, up to three different single-gene disorders have been tested using a single biopsy.

All embryos tested with IdentifySGD will also receive Comprehensive Chromosome Screening (CCS), which screens for too many or too few chromosomes (aneuploidy).

Frequently asked questions

IdentifySGD uses technology that allows selection of genetic markers for testing that are as close as possible to the site of the genetic change. This reduces the risk of recombination (rearrangement of genetic material). IdentifySGD has been demonstrated to be at least 98% accurate in screening for single-gene disorders.1

However, like any test, false positives and negatives can occur. When a pregnancy occurs after the transfer of embryos analyzed by IdentifySGD, it is recommended that results are confirmed by chorionic villus sampling (CVS) or amniocentesis. These tests can be coordinated through your obstetrician’s office.

Having the IdentifySGD test does not guarantee a pregnancy or a healthy baby.

As part of the IdentifySGD process, a specially trained embryologist safely removes (biopsies) five to ten cells from each embryo. These cells are removed from a specific area of the embryo (the trophectoderm) at a specific time in embryonic development. This method of biopsy is the safest available, and has been proven not to harm the embryos.2

Only the biopsied cells are sent to the laboratory for analysis. Your embryos never leave the care and security of your physician’s IVF laboratory.

The validation phase, where your family’s custom test is created, typically takes four to eight weeks to complete. Once the embryo biopsies are received by the lab, your physician will receive the results on the embryos in about two weeks.

Speak with your IVF team about the costs and benefits of this test and to determine your insurance coverage, if any.

REFERENCES

  1. Zimmerman, R. S., et al. (2016). Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification. Fertility and Sterility, 105(2), 286-294.
  2. Scott, R. T., et al. (2013). Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: A randomized and paired clinical trial. Fertility and Sterility, 100(3), 624-630.

Advanced genetic screening for unparalleled outcomes

In partnership with the Foundation for Embryonic Competence, Progenity offers the IdentifySGD test, a unique preimplantation genetic diagnosis test designed to identify specific single-gene disorders. The IdentifySGD testing process includes the creation of a custom assay designed to target the specific variant(s) of interest based on your patient’s family or medical history. IdentifySGD testing may benefit individuals or couples who have been identified as at risk to conceive a child with a single-gene disorder.

  • Determines with ≥98% accuracy whether the embryo inherited the genetic disorder of interest prior to implantation.1
  • Provides >99% diagnostic rate for embryo samples tested vs. 84% diagnostic rate with other tests.1,2
  • Shows an allele drop-out rate of <1% vs. 12% with other tests like whole-genome amplification (WGA) with microarray or short tandem repeat (STR) analysis.1,2

Comprehensive analysis from a single biopsy

All embryos undergoing single-gene analysis via IdentifySGD also receive Comprehensive Chromosome Screening (CCS) for chromosomal aneuploidy. The two tests combined provide comprehensive preimplantation screening using a single embryo biopsy, and may improve IVF success rates.

IdentifySGD can screen for nearly any single-gene disorder. To date, the test has provided preimplantation genetic diagnosis for 500+ embryos from over 100 families. The test has detected a wide variety of single-gene disorders, including those with autosomal recessive, autosomal dominant, and X-linked inheritance.

IDENTIFY NEARLY ANY SINGLE-GENE DISORDER, INCLUDING:

Alpha-thalassemia
Galactosemia
Alport syndrome
Gaucher disease
Autosomal recessive polycystic kidney disease
Huntington’s disease
Charcot-Marie-Tooth disease
Noonan syndrome
Cystic fibrosis
Sickle cell anemia
Dyskeratosis congenita
Spinal muscular atrophy
Fragile X syndrome
Tay-Sachs disease

Navigating the testing process

Because IdentifySGD includes a custom test that is created for each family, the testing process includes two phases: The validation phase, which includes the creation and validation of the custom assay for each family, and the biopsy phase, which occurs once the IVF cycle has begun. Previous genetic testing results, patient specimens, and completed paperwork must be provided at least two months before the patient’s intended cycle start date.

IdentifySGD testing is offered in partnership with the Foundation for Embryonic Competence.

Indications for testing

The IdentifySGD test is appropriate in any of these cases:

  • Both partners are carriers of the same autosomal recessive disorder
  • Female partner is a carrier of an X-linked condition
  • There is a known familial variant

For couples identified as at risk for a single-gene disorder exclusively through the Preparent™ Carrier Screen, Progenity offers the Positive Choices program. Positive Choices helps your clinic improve patient access to preimplantation genetic diagnosis for single-gene disorders. Reach out to your local Progenity representative for details.

Limitations of testing

The IdentifySGD test screens for the specific single-gene disorder(s) noted on the custom testing plan for each family with ≥98% accuracy.1 Similar to other preimplantation genetic diagnosis tests, there is a small chance for false positive or false negative results, errors, or rare familial variations. Prenatal diagnosis is recommended to confirm results in any pregnancy resulting after preimplantation genetic diagnosis.

Why Progenity? We make it easy.

From start to finish, our team is committed to making your life easier. We’ll work with you to institute a practical program of genetic screening, tailored to the needs of your clinic and your patients. Whether you need brochures or an in-depth review of a case, you’ll get the service and support you need.

Expert clinical support for providers & patients

Our team is here for you. A world-class team of genetic counselors and experienced laboratory directors is on call to support both clinicians and patients.

Communication at every step

We help you navigate the complexity. Our staff reviews each case and works closely with your clinic to ensure all information is received and communicated as couples proceed through the process.

Personalized client service

Where you’re a name, not a number. Your responsive Progenity account manager is available locally, and the Progenity Client Services team is just a phone call away.

REFERENCES

  1. Data on file. The Foundation for Embryonic Competence.
  2. Gutiérrez-Mateo C, Sánchez-Garcia JF, Fischer J, et al. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril. 2009;92(5):1544-1556.

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