NIPT – Patient
What is NIPT?
Non-invasive prenatal testing (NIPT), also known as cell-free DNA (cfDNA) screening, is a safe, simple and reliable method of screening for common chromosome abnormalities as early as 10 weeks into pregnancy.
What’s involved in NIPT screening?
NIPT uses a single maternal blood test which includes the maternal and fetal DNA fragments that are then compared against a set of reference chromosomes.
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
What is aneuploidy?
Most cells in the human body possess 23 pairs of chromosomes, 46 in total. Chromosomes contain the genetic information that directs growth and development in the body. 23 chromosomes are inherited from the egg and 23 are inherited from the sperm.
When extra or missing chromosomes are detected, it’s called aneuploidy.
What abnormalities does NIPT screen 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 Verifi™ Plus NIPT.
The most innovative NIPT screening available
While there are different methods for performing noninvasive prenatal testing, sequencing is the most published method.3 It has demonstrated excellent detection rates and very low false positive rates.4
Access Genomics’ Verifi™/ Verifi™Plus Prenatal Test uses whole genome next generation sequencing (NGS) to screen for common fetal aneuploidies, with higher detection rates and significantly fewer false positives than traditional screening methods.5-8
NIPT vs traditional serum screening
- Offers the highest reported detection rate for Down syndrome5
- Offers the lowest reported false positive rate for Down syndrome5
- Offers the broadest screening window (performed as early as 10 weeks gestation until term)5-7
Lowest failure rate on the market
NIPT failure rates vary significantly based on the type of test used. Verifi™/Verifi™ Plus has the lowest test failure rate of any NIPT available.1-2
The impact of test failure
As test failure is really an inconclusive result, it can lead to increased anxiety on the part of the patient and the physician, and it 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 repeat attempts.9,*
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.”10 With a lower test failure rate, whole- genome NGS-based assays like Verifi™/Verifi™ Plus are more likely to detect these aneuploidies the first time.
The detailed and quick 5 business day turnaround NIPT reporting Access Genomics provides, empowers you and your healthcare provider to make better informed decisions about your pregnancy.
Genetic counselling available
To help you better understand your test results and the options available to you , Access Genomics provides genetic counselling for parents.
1.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.
2. 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
3. Data calculation on file. Illumina, Inc. 2016.
4. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45(3):249-266.
5. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.
6. 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.
7. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
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. Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014;211(5):527.e521-517.
10. Cell-Free DNA Screening – Publications. Society for Maternal-Fetal Medicine.
* This 65% includes test failures from redraws and patients that either chose not to submit a second sample or are ineligible for a redraw due to specific features that prevent resolution with SNP-based NIPT (i.e. large regions exhibiting loss of heterozygosity [LOH]). † Affected pregnancies with a screening test failure were excluded from the number of detected T21.
Images (c) Illumina(R) used with permission