Non-Invasive Prenatal Testing (NIPT test)

The Generation suite of NIPT test options incorporates Generation, Generation 46 and Generation Plus.

Generation NIPT is a highly accurate, non-invasive prenatal screening test, based on whole genome sequencing (WGS) with proprietary algorithms. The test analyses circulating cell-free fetal DNA, detected from a maternal blood sample, with testing 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 multiple published studies of thousands of pregnant women, for both singleton and twin pregnancies. Clinical best practice guidelines from Australian and international medical societies recommend that all pregnant women, regardless of risk status, should be offered the opportunity for discussion and choice regarding NIPT.

The Generation Plus test option should be considered only when there are specific indications of an increased risk of one of these microdeletion syndromes. Typical clinical indications include, but are not limited to:

• Ultrasound imaging suggestive of a specific microdeletion syndrome.
• Previous history of a pregnancy diagnosed with, or a child affected with, one of these conditions.

Test details

The Generation Plus test is performed in an accredited laboratory in California and has a longer turnaround time (11 – 15 business days) than other Generation options.

This test is not recommended in an unselected/low risk cohort, where the Generation or Generation 46 screen should be considered instead. It is recommended that testing for microdeletion syndromes is accompanied by specialised genetic counselling.

Features of Generation

• Simple and safe - A single tube of blood drawn from the patient from 10 weeks gestation.
• Reliable – Whole genome sequencing has been demonstrated to have the lowest test failure rate.
• Supportive - Genetic Counselling is available free of charge for those patients where high risk results due to specific aneuploidies are detected (upon request by the healthcare practitioner), so they can better understand their results, the options, and the implications.
• Highly accurate - > 99% Accuracy for Trisomy 21, 18 & 13.
• Convenient - Blood can be collected from over 2000 collection centres around Australia.
• Quality assured - performed in a NATA/RCPA accredited laboratory.
• Fast results - Generation and Generation 46 are reported in 3 – 7 business days, and for Generation Plus are reported in 11 – 15 business days, from sample arriving at the testing laboratory.

1. _{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}
2. _{COG Committee on Practice Bulletins. (2007) ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-227.}
3. _{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.}
4. _{Bhatt S, Parsa S, Snyder H, et al. Clinical Laboratory Experience with Noninvasive Prenatal Testing: Update on Clinically Relevant Metrics. ISPD 2014 poster.}
5. _{Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012; 119:890–901.}
6. _{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.}
7. _{Bianchi DW, Parker RL, Wentworth J et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N Engl J Med 2014; 370:799-808}
8. _{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.}
9. _{Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides K.H. Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening. Ultrasound Obstet Gynecol. 2017; 49:460-464.}
10. _{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.}