NIPT Physician

NIPT – Physician

What does a Non-Invasive Prenatal Test (NIPT) typically screen for?

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Certain sex chromosome aneuploidies

Professional societies, including the American Congress of Obstetricians and Gynecologists (ACOG), have recommended NIPT as an option for all pregnant women, regardless of age or risk.1,2

NIPT has a higher level of sensitivity and specificity than traditional serum screening 1-3 offering the:

  • Highest reported detection rate for Down syndrome1
  • Lowest reported false positive rate for Down syndrome1
  • Broadest screening window (performed as early as 10 weeks gestation until term)1–3

Quick and Easy Screening

NIPT safely and noninvasively screens for the most common chromosomal aneuploidies as early as 10 weeks gestation, using a single maternal blood draw.

The maternal blood sample contains a mixture of both maternal and fetal cfDNA.

The maternal blood sample contains a mixture of both maternal and fetal cfDNA.

  • Both maternal and fetal fragments are sequenced and counted in NIPT.
  • Aneuploidies are detected
by comparing the number
of sequence counts of the chromosome of interest against a set of reference chromosomes.

Get Results Within 5 Business Days

Access Genomics provides your report within 5 business days of receipt of blood sample.

What abnormalities does NIPT screen for?

implantation rate by maternal age
implantation rate by maternal age

Now available: options for chromosome deletions and microdeletions

  • Chromosome deletions and microdeletions disorders are caused by small missing pieces of chromosome material.
  • Screening for microdeletion and deletion syndromes is available with some NIPT offerings, including VerifiTM Plus.
  • Similar to NIPT for whole chromosome aneuploidies, positive predictive value is dependent on the prevalence of the microdeletion/deletion syndrome.

Most Accurate Testing Available

Don’t settle for failure 

NIPT failure rates vary significantly based on the type of test used. The Access Genomics VerifiTM / VerifiTM Plus Prenatal Test uses whole-genome next generation sequencing (NGS) to screen for common fetal aneuploidies, with higher detection ratNes and significantly fewer false positives than traditional screening methods.1-4

The Impact of Test Failure

Test failure can potentially lead to an increased number of follow-up invasive procedures to obtain information. Although ordering a second blood draw to repeat NIPT is an option, there are no guarantees that repeated NIPT will provide a result. In fact, as many as 65% of patients who receive a test failure result on their first draw fail to receive a conclusive result, even after repeat attempts.8

Whole-genome next generation sequencing (NGS) methods for NIPT have lower test failure rates than other targeted methods. According to the Society for Maternal-Fetal Medicine (SMFM), “women with failed cfDNA tests are at an increased risk for aneuploidy, and therefore need careful counseling about further testing, including the offer of diagnostic testing.”9 With a lower test failure rate, whole-genome NGS-based assays are more likely to detect these aneuploidies the first time.

Why Choose the Access Genomics VerifiTM / VertifiTM Plus Prental Test

  • Proven superiority to traditional screening methods for the screening of common fetal aneuploidies, with reduced
false positive rates (increased specificity) and increased positive predictive values (PPV)1-2
  • Comprehensive portfolio with expanded panel available
  • Fast turnaround time
  • Lowest published failure rate in the industry, 0.1%5-7

Clear, concise results

Results are reported as:

  • “Positive: Aneuploidy Detected”
    or
  • “Negative: No Aneuploidy Detected”
  • Results for chromosomes 21, 18, 13 are reported individually

Health care providers are responsible for how they use this information to guide patient care in situations such as advising on the need for genetic counselling or additional diagnostic testing. Any diagnostic testing should be interpreted in the context of all available clinical findings.

References

1. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.

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):1056-1065.

3. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.

4. Norton ME, Jacobsson B, Swamy GK, et al. Cell- free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589-1597

5. 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.

6. 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.

7. 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):219-223.

8. Norton ME, Jacobsson B, Swamy GK, et al. Cell- free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589-1597

9. Cell-Free DNA Screening – Publications. Society for Maternal-Fetal Medicine.

Resources

Mosaicism https://www.fertilityiq.com/pgs-and-ccs-genetic-testing/mosaicism

The Problem of Mosaic Embyros in IVF https://www.fertilityiq.com/pgs-and-ccs-genetic-testing/the-problem-of-mosaic-embryos-in-ivf

Images (c) Illumina(R) used with permission