Generation non-invasive prenatal testing (NIPT)

Introducing the Generation® screen

  • Simple

    • A single tube of blood drawn from the patient;
  • Convenient

    • Blood can be collected in one of our collection centres from as early as 10 weeks;
  • Accurate6,7,13

    • >99% Accuracy for Trisomy 21, 18 & 13
  • Australian

    • Your patient’s Generation® test is performed in Australia.
      (Generation® Plus test with microdeletions is performed in California.)
  • Reliable

    • It has the lowest reported test failure rate of any NIPT (0.1%)6;
    • NATA/RCPA accredited
  • Fast

    • Results for Generation® tests are reported 5-7 days from sample collection.
    • The Generation® Plus test including microdeletions is reported 9-14 days from collection due to sample transport times to California.
  • Cost Effective

    • The standard Generation® test is available at $395*
    • Generation® Plus including microdeletions, please enquire for pricing.*
  • Extended Services

    • Exclusively able to be bundled with other advanced scientific services such as cord blood stem cell banking for your baby at birth

*Prices subject to change.


What is Generation®?

Generation® is a highly efficient, accurate, non-invasive prenatal screening test, based on Whole Genome Sequencing (“WGS”) with proprietary algorithms, that analyses circulating cell-free fetal DNA from a maternal blood sample from as early as 10 weeks gestation.

The clinical utility and benefit of the Generation® test has been demonstrated in all pregnant women – regardless of age or risk category – in numerous publications, including studies in the New England Journal of Medicine, as well as reports with cohorts of over 34,000 patients6,7,8,9.

Clinical best practice guidelines from Australian and international medical societies recommend that all pregnant women, regardless of risk status, be offered the opportunity for discussion and choice regarding NIPT and other available prenatal screening and diagnostic tests3,4,5.


The benefits of whole genome sequencing

Generation® has the lowest reported test failure rate

What does the Generation® NIPT test for?

Prenatal prevalence of reported chromosomal abnormalities

What are the performance characteristics for Generation® NIPT?

Who should be offered the Generation® NIPT test?

Appropriate follow-up after NIPT

Genetic Counselling Options

How do I organise for my patient to be tested?

More options for patients

References

1) http://legacy.screening.nhs.uk/fetalanomalies
2) http://www.theguardian.com/society/2016/jan/15/non-invasive-test-for-downs-syndrome-recommended-for-high-risk-women
3) RANZCOG Statement on Prenatal screening and diagnosis of chromosomal and genetic abnormalities in the fetus in pregnancy C-Obs 59. Endorsed by RANZCOG: March 2015
4) ACOG Committee on Practice Bulletins. (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-227.
5) Society for Maternal-Fetal Medicine (SMFM) Publications Committee. #36: Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol. 2015; S0002-9378(15)00324-5.
6) Bhatt S. Parsa S, Synder H, et al. Clinical Laboratory Experience with Noninvasive Prenatal testing Update on Clinically Relevant Metrics. ISPD 2014 poster.
7) Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012; 119:890-901.
8) Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in non-invasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013;33:569-574
9) Bianchi DW, Parker RL, Wentworth J et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med 2014; 370:799-808
10) Zhao C, Tynan J, Ehrich M, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from material plasma. Clin Chem. 2015; 61(4):608-16
11) Wong FC, Lo YM. Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma. Annu Rev Med. 2016 Jan 14; 67:419-32.
12) Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014; 124:210-8.
13) Verinata Health, Inc. (2012) Analytical Validation of the verifi Prenatal Test: Enhanced Test Performance for Detecting Trisomies 21, 18 and 13 and the Option for Classification of Sex Chromosome Status. Redwood City, CA.
14) Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211:527.
15) Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012; 207(2):137.e1-137.e8.
16) Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012. 14:296-305