IriSight® Prenatal Genetic Testing

What is amniocentesis/CVS and why is it performed?

Amniocentesis is a procedure where amniotic fluid is collected. Your baby’s DNA is then isolated from the collected amniotic fluid. Chorionic villus sampling (CVS) is a similar procedure that collects chorionic villi, but can be performed earlier in the pregnancy. Your baby’s DNA is then isolated from the collected chorionic villi.

With the DNA obtained from amniocentesis or CVS, a diagnostic genetic test can be performed to understand your baby’s genetic make up and to identify DNA changes that can affect your baby’s health and development.

Multiple types of genetic testing are possible, but not all types are equally informative. Most use technologies that focus on specific regions of the DNA in order to find the DNA changes, but this means they can overlook changes in other regions.

In contrast, IriSight® is a diagnostic genetic test that uses the most advanced DNA sequencing technology – whole genome sequencing (WGS). It provides a comprehensive view of your baby’s entire DNA, detecting more DNA changes than other types of genetic tests.

Who is IriSight® for?

IriSight® is recommended if your healthcare provider suggests diagnostic
genetic testing using amniocentesis or CVS*. Or if you are generally
interested in diagnostic testing for peace of mind. In these cases, IriSight®
testing is the most comprehensive option available.

*Amniocentesis or CVS is sometimes recommended when ultrasound results are abnormal.

The more you know, the better prepared you’ll be

Knowing if there’s a genetic diagnosis impacting your baby’s development can change the way your pregnancy is managed by your healthcare team. It can lead to treatments or therapies before and after delivery, as well as connect you with other families who are experiencing a similar situation.

See more of your baby’s DNA with IriSight®

When diagnostic testing via amniocentesis or CVS is recommended, it’s important to choose the test that provides the most complete picture of your baby’s DNA.

There are more than 6,000 known genetic disorders. Some, like Down syndrome, are caused by extra copies of an entire chromosome – in this example, chromosome 21. Others, like DiGeorge syndrome, are caused when small portions of a chromosome (in this case chromosome 22) are missing. Many more are caused by a single base change in the DNA code – such as the >1,500 different DNA variants in the CFTR gene known to cause cystic fibrosis.

Only a test like IriSight® that uses whole genome sequencing technology can detect DNA changes ranging in size from single base to entire chromosome changes.

With IriSight®, only one test is needed

Prenatal genetic testing is typically performed in two steps. Chromosomal microarray (CMA) is ordered first to look for large chromosomal abnormalities. Because CMA can’t detect smaller changes, if this test is negative, exome testing will be ordered as a second follow up test. This sequential testing approach extends the time it takes to receive a diagnosis and may even miss some diagnoses.

With IriSight® testing, sequential testing is unnecessary. With a single test, IriSight® can detect DNA changes ranging in size from single base to entire chromosome changes. While no genetic test can rule out the possibility that your baby carries a rare, unexamined variant that goes undetected*, IriSight® testing provides the most comprehensive view available today. All with a single test.

*A negative IriSight® result does not rule out the possibility that your baby carries a rare, unexamined pathogenic variant or a pathogenic variant in an undetectable region. All sequencing technologies, including whole genome sequencing, may generate false positive and false negative results.

Ask your doctor about IriSight®

Starting a conversation with your healthcare provider

Talking with your doctor or a genetic counselor is an important step in the process of making a decision about whether genetic testing is right for you. And if so, which genetic test is the best fit. The following questions may help get the conversation started:

  • Based on my family history, personal history and this pregnancy, what types of prenatal genetic testing are available to me? Carrier screening? NIPT? CMA? Exome or genome?
  • What types of genetic conditions will each test detect?
  • What types of genetic conditions will each test NOT detect?
  • What possible results can I expect from each test?
  • How accurate is each test?

FAQs about IriSight® testing

    • IriSight® is recommended if your healthcare provider suggests diagnostic genetic testing using amniocentesis or chorionic villus sampling (CVS). Or if you are generally interested in diagnostic testing for peace of mind.

    • IriSight® testing detects all of the disorders commonly tested for by other diagnostic tests like chromosomal microarray (CMA). These include: Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome (trisomy 13), Monosomy X (Turner syndrome) and additional microdeletion syndromes. In addition, IriSight® Comprehensive Analysis – Prenatal detects disorders caused by small sequence changes such as cystic fibrosis. As well as repeat expansions in FMR1, which causes Fragile X syndrome, and other genes.

    • It depends on which sample type is preferred. IriSight® testing can be ordered as soon as the 11th to 12th week of pregnancy when chorionic villus sampling (CVS) is used. Or during the 16th to 20th week of pregnancy when amniocentesis is typically used. Your healthcare provider can explain more about CVS and amniocentesis procedures, including the best time during your pregnancy to perform them and risks associated with the procedure.

    • A test report will be provided to your doctor within 8 to 11 days of receiving your sample, depending on the specific test ordered.

    • Yes, IriSight® testing can determine your baby’s sex.

    • Yes, IriSight® testing can be performed on multiple pregnancies.

    • IriSight® testing may be covered by insurance, depending upon the specifics of your insurance carrier’s policy and the specifics of your personal medical situation. For cases where insurance coverage is not available, we offer self pay pricing.

    • IriSight® testing must be ordered by a healthcare provider.

      If your healthcare provider needs assistance with obtaining test order forms, sample collection kits, etc, please contact us – we’re happy to help.

We See More, So You Know More

Learn more about different types of genetic testing.

Explore testing options