Invitae Non-invasive Prenatal Screening

Give your pregnant patients the genetic insights they want, and more.

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Invitae Non-invasive Prenatal Screening (NIPS)

  • Our high-quality, affordable NIPS can detect fetal chromosomal abnormalities as early as 10 weeks, for all pregnant patients.

  • Invitae uses whole-genome sequencing (WGS) to quickly analyze cell-free DNA (cfDNA) to assess whether a singleton or twin pregnancy is at increased risk for the three most common chromosomal disorders on chromosomes 21, 18, and 13.

  • Add optional microdeletion and sex chromosome analysis at no additional charge, or pair with carrier screening for even more insights.

Comprehensive test menu

Invitae NIPS detects:

Trisomy Sensitivity* Specificity*
Trisomy 21 (Down Syndrome) 99% 99%
Trisomy 18 (Edwards Syndrome)  99% 99%
Trisomy 13 (Patau syndrome) 99% 99%

*Specificity and sensitivity calculated using internal validation data.


Assess clinically significant microdeletions, determine the risk of sex chromosome disorders, and predict fetal sex—all in one test, at one affordable price.

Microdeletions add-on Sex chromsome add-on
Detect five clinically significant microdeletion regions to screen for syndromes that may be undetectable by ultrasound and other early screening technologies. Predict fetal sex—as early as 10 weeks—with greater than 99% accuracy, and simultaneously detect aneuploidies to determine the risk of sex chromosome disorders.

Microdeletions detected:

  • 1p36 deletion syndrome

  • DiGeorge syndrome (22q11.2 deletion syndrome)

  • Angelman/Prader-Willi syndrome (15q11.2 deletion syndrome)

  • Cri du Chat syndrome (5p15.2 deletion)

  • Wolf-Hirschhorn syndrome (4p16.3 deletion)

Aneuploidies detected:

  • Turner syndrome (monosomy X)

  • Triple X syndrome (47,XXX)

  • Klinefelter syndrome (47,XXY)

  • Jacob’s syndrome (47,XYY)

Invitae NIPS for twins

  • Assess whether a twin pregnancy is at increased risk for the three most common chromosomal disorders on chromosomes 21, 18, and 13.
  • Invitae’s optional sex chromosome add-on for twins can determine the presence of a Y chromosome at no additional charge.
  • Sex chromosome aneuploidy and microdeletion for twin pregnancies are not available.

ORDER NIPS for TWINS

Clear, reliable results

Established technology 

  • Invitae NIPS uses WGS, with proven performance even in the presence of lower fetal fraction.3-7

Predictive values 

  • Positive predictive value (PPV) and negative predictive value (NPV) are calculated for each patient using individual maternal age and gestational age

  • Each report contains PPV or NPV for chromosomes 21, 18, and 13

Fetal fraction

  • Each result report includes fetal fraction, the percentage of fetal DNA (placental cell-free DNA) present in the sample. Invitae’s technology is optimized to handle samples with a fetal fraction of ≥1% to deliver more accurate results.

Streamlined experience, for you and your patients

  • Meet Gia, our HIPAA-compliant genetic testing clinical chatbot: She can facilitate pre-test education and provide guidance on test ordering based on your patient’s personal history—before your patient arrives for her appointment.

  • Auto-release negative results to patients so they can take advantage of our interactive patient portal, which includes a video revealing the baby’s predicted sex for patients who want to know.

  • Order follow up diagnostic testing from Invitae, if necessary.

More insights with Invitae's broad test menu

From screening to diagnosis, Invitae has the right test for each patient, no matter where they are in their pregnancy journey.

Pair carrier screening

with NIPS for comprehensive early pregnancy genetic analysis.

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Confirm positive NIPS

with Invitae’s prenatal diagnostic tests.

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Uncover the cause

of recurrent miscarriage with Invitae’s chromosomal microarray analysis.

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The Invitae advantage

Affordable pricing

Invitae is committed to offering flexible options and affordable pricing as part of our mission to make genetic testing accessible to all.

NIPS patient-pay price is just $99.  

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Flexible billing options

Invitae is proud to be in-network for more than 300 million patients.

For patients without coverage, we also offer a financial assistance program.

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Hands-on clinical support

Invitae’s team of genetic experts provide peer support for clinicians and post-test counseling for patients at no additional charge.

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Take the first step by requesting a free specimen collection kit today.

Request a kit

References:

  1. Practice Bulletin No. 163: Screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):979-81.
  2. Gregg AR, Skotko BG, Benkendorf JL et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-65.
  3. Taneja PA, Snyder HL, de Feo E et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases. Prenat Diagn. 2016;36(3):237-243.
  4. McCullough RM, Almasri EA, Guan X et al. Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples. PLoS One. 2014;9(10):e109173.
  5. Ryan A, Hunkapiller N, Banjevic M et al. Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies. Fetal Diagn Ther. 2016;40(3):219-23.
  6. Yaron Y. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon. Prenat Diagn. 2016;36(5):391-6.
  7. Norton ME, Jacobsson B, Swamy GK et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372:1589-97.