Sonic Healthcare USA enhances the value of genetic testing by improving access and streamlining services for our patients and providers. Sonic provides our patients direct access to expert genetic counseling solutions, supporting an increased need for understanding genetic test results.

 

The Sonic Difference

 

End-to-end laboratory partner

Seamless and non-disruptive integration with office workflows

NIPT ICON2

Extensive interface experience

EHR interfaced results delivered securely in an optimized report format

NIPT ICON3

Conclusive and patient-friendly results

Available through our online patient portal, SonicMyAccess

NIPT ICON4

Best-in-class access

Local pathology support and access to over 500 patient service centers in the U.S.

NIPT ICON5

Genetic counseling 

Post-test sessions with licensed and board-certified genetic counselors

Billing services and price estimates

Dedicated care specialist team for patient eligibility, benefits verification, and prior authorization services

Prenatal screening during pregnancy

Non-invasive prenatal screening is considered to be appropriate for all pregnant women regardless of age or personal history.1 We utilize a guideline-based approach to develop our test menu, improving the quality of care while potentially lowering costs.

Chromosome Conditions:

  Trisomy 21 (Down syndrome)

  Trisomy 18 (Edwards syndrome)

  Trisomy 13 (Patau syndrome)

 

 

Add-On Offerings Include:

  Fetal Sex

  Monosomy X

  Sex Chromosome Aneuploidies

  Microdeletions Syndromes+

  All Chromosome Aneuploidies+

+Screening for other aneuploidies such as trisomy 16, trisomy 22, microdeletion testing, and genome-wide screening for large copy number changes is not recommended by ACOG as testing is not clinically validated and detection rates and false-positive rates are not well established.1

Insights

Twin Pregnancies

  • Validated for singleton, twin, egg donor, and surrogate pregnancies
  • Delivers the most clinically relevant information without sacrificing sensitivity
  • Provides actionable results to impact clinical outcomes and patient management

Microdeletions and Rare Autosomal Anueploidies 

Screening for other aneuploidies such as trisomy 16, trisomy 22, microdeletion testing, and genome-wide screening for large copy number changes is not recommended by ACOG as testing is not clinically validated and detection rates and false positive rates are not well established.1 These testing options should only be done after a thorough informed consent process which includes discussing the high probability of a positive result being a false positive.2 Testing should only be ordered if a provider can give a clear indication of risk of fetal death, serious fetal abnormality, or other adverse pregnancy outcome as there is limited data to help guide clinicians on pregnancy management when these findings occur.3

As a screening test, NIPS is not intended to diagnose chorionicity or replace ultrasound evaluation.

While younger women may have a higher risk for fetal microdeletion syndromes than aneuploidy, ACOG does not recommend Non-Invasive Prenatal Screening for microdeletions.

Test Performance Overview4

 

Aneuploidy Singleton Pregnancies Twin Pregnancies
Sensitivity Specificity NPV (%)* PPV (%)* Sensitivity Specificity
Trisomy 21
 (Down syndrome)
>99.9% >99.9% >99.9% 49.82 >96.4% >99.9%
Trisomy 18
 (Edwards syndrome)
>99.9% >99.9% >99.9% 49.99 >95.7% >99.9%
Trisomy 13
 (Patau syndrome)
>99.9% >99.9% >99.9% 50.05 >93.6% >99.9%

Fetal Sex Aneuploidies Sensitivity Specificity
Monosomy X
 (Turner syndrome)
90.5% >99%
XXX
 (Triple X syndrome)
>99% >99%
XXY
 (Klinefelter syndrome)
>99% >98.9%
XYY
 (Jacobs syndrome)
91.7% >99%

 

*PPV and NPV values calculated at 0.1% prevalence
Data presented in this table are based on VeriSeq NIPS v2 CE-IVD method25

Fetal sex aneuploidies cannot be performed in twin pregnancies

Discover comprehensive outcomes with the lowest
“no-call” rate

 

Sonic Healthcare USA offers non-invasive prenatal screening using cutting-edge innovations that yield undetected low rates to provide accurate results and reporting, reducing unnecessary re-testing, procedures, and rate of being redrawn.

Reducing the “no-call” rate may help to lessen:

  Unnecessary diagnostic tests

  Patient anxiety while awaiting results

No Call Rate

4 Step Testing Process

References:

1. American College of Obstetricians and Gynecologists. Practice Bulletin No. 226: Screening for fetal chromosome abnormalities. Obstet Gynecol. 2020;136(4). | ACOG Practice Bulletin 226: Screening for Fetal Chromosomal Abnormalities. Obstet Gynecol 2021 Oct;136(4):e48-e69
2. https://www.ajog.org/article/S0002-9378(17)31187-0/pdf
3. Benn P, Borrell A, Chiu R, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734.
4. Data on file, Illumina, 2019.
5.https://support.illumina.com/conte

6. Taneja PA, Snyder HL, de Feo E, et al. Non-invasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85,000 cases. Prenat Diagn. 2016;36(3):237-243.
7. Norton et al, N Engl J Med. 2015; 23;372(17):1589-97

 

Important Test Information

NIPS is a screening test, therefore false-negative or false-positive results can occur. Carrier conditions including but not limited to blood transfusion, organ transplantation, bone marrow transplant, certain surgical procedures, stem cell therapy, malignancy, or genetic mosaicism can affect test accuracy. Pregnancy-related conditions such as fetal or placental genetic mosaicism, nonviable twin, or fetal demise can decrease test accuracy. There are exceptional and uncommon situations which is why NIPS should be regarded as a screening test. There is a small well-defined possibility that NIPS will not reflect the actual chromosome status of the fetus. A “high probability” result should be confirmed by invasive genetic testing before taking irreversible steps in the management of the pregnancy. A “low probability” result may still warrant invasive genetic testing if there are other indicators of a fetal chromosome disorder. NIPS does not detect all genetic defects or non-genetic or structural birth defects. Conclusions about the fetal condition and pregnancy management decisions should not be solely based on the results of this screening test alone.

 

Non-Invasive Prenatal Screening: This test was developed and its performance characteristics were determined by Sonic Reference Laboratory (SRL). It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes and should not be regarded as investigational or for research. SRL is qualified to perform high complexity testing under the Clinical Laboratory Improvement Amendments (CLIA).