Invitae prenatal diagnostic testing for chromosomal abnormalities

Find the option that’s right for your patient with Invitae’s broad menu of prenatal diagnostic tests

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What tests does Invitae offer?

Prenatal microarray analysis is recommended by the American College of Obstetrics and Gynecology (ACOG) in lieu of karyotyping for all women undergoing prenatal diagnosis, regardless of maternal age.1 

Invitae offers two single nucleotide variant (SNV) options for prenatal diagnosis:

  • Prenatal whole genome microarray offers maximum sensitivity across the genome but has a slightly higher variant of uncertain significance (VUS) rate.

  • Prenatal targeted microarray looks at a carefully curated selection of the genome in regions with known clinical significance to provide maximum sensitivity and a lower VUS rate.

Why is prenatal microarray analysis preferred to karyotyping?

  • Identifies microdeletion/microduplication syndromes not detectable through karyotyping

  • Simultaneously detects maternal cell contamination on direct microarray analysis of amniotic fluid or chorionic villi without the need for a maternal blood sample

  • Allows for more precise medical management and genetic counseling

When is prenatal chromosomal microarray analysis indicated?

  • Following a normal fetal ultrasound and normal fetal karyotype
    1 in 60 women with a normal fetal ultrasound and a normal fetal karyotype have a chromosome abnormality identified by microarray analysis.

  • Following an abnormal fetal ultrasound and normal fetal karyotype
    1 in 17 women with fetal structural anomalies detected by ultrasound and a normal fetal karyotype had a chromosomal abnormality identified by microarray analysis.

  • Following a negative NIPS result with fetal structural anomalies identified by ultrasound
    Diagnostic microarray analysis provides valuable confirmatory information following a negative NIPS result paired with a structural ultrasound abnormality.

  • Following a positive NIPS result
    Diagnostic microarray analysis provides diagnostic confirmation of an abnormality suspected on NIPS, and provides confirmation of a normal result indicating a false positive.

How long does it take to get results?

  • Microarray results are typically available in 7-8 days from the time samples are received by Invitae’s lab.

  • G-banded karyotype analysis offers detection of numeric chromosome abnormalities, balanced and unbalanced chromosome rearrangements, and polyploidy in 10-12 days on average.

  • Invitae’s rapid interphase fluorescent in situ hybridization (FISH) does not require a cell sample and looks at a small subset of chromosomes to help you get confirmatory answers when you need them fast. Results are typically available in 24-48 hours, in comparison to metaphase FISH tests which do require a cell sample and typically take 14+ days.

Why Invitae

Flexible testing options

In additional to traditional karyotyping, Invitae offers two single nucleotide polymorphism (SNV) microarray testing options so you can find the right test for every patient—all from one lab.

Superior coverage

Invitae technology provides superior, clinically focused, genome-wide coverage.

Comprehensive reports

Invitae provides references to assist in patient counseling and links to tools for evaluating non-copy number related abnormalities, such as regions of homozygosity.

Expert interpretation

Invitae’s laboratory directors have decades of experience in interpreting microarray results and can assist you in understanding complex results.

The Invitae advantage

We make billing simple, so you can focus on your patients

Invitae is proud to be in-network with over 250 million patients. We also offer a financial assistance program to uninsured patients.

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Hands-on clinical support for clinicians

Invitae’s board-certified genetic counselors can help every step of the way from reviewing patient cases and selecting the right test to clarifying results.

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Get started

         Follow these easy steps to get started with Invitae:

Request a free specimen collection kit online.

Order a test using a paper test requisition form.

  • Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

  • Parents of patients can also contact Client Services at clientservices@invitae.com for billing and insurance-related questions.

Receive a comprehensive results report

  • If you have questions about results or their clinical implications, our genetic counselors are available to discuss.

Additional tests for patients across all reproductive stages

Invitae offers a comprehensive test menu that can provide actionable insights for all of your patients, whether they are considering pregnancy or already pregnant. Proactive cancer screening offers healthy adults an opportunity to understand their DNA and heritage.

Proactive cancer screening

offers healthy adults an opportunity to assess their heritable cancer risk so they can take proactive action if necessary.

Learn more

Non-invasive prenatal screening (NIPS)

uses proven next-generation sequencing technology to provide accurate results with the lowest failure rate.

Learn more

Carrier screening

is recommended by the American College of Obstetricians and Gynecologists for all women of reproductive age, either before or during pregnancy.

Learn more

Pregnancy loss analysis

can identify the cause of recurrent miscarriage, intrauterine fetal demise, and stillbirth to help inform patients' future reproductive plans.

Learn more

Reference:

  1. ACOG Practice Bulletin No. 163 (replaces practice bulletin No. 77, January 2007): Screening for Fetal Aneuploidy. Practice Bulletin No. 163. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2016;127(5):e123-37.