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Learn MoreNIPT: A Breakthrough Genomic Solution
Evolving pregnancy screening options, such as noninvasive prenatal testing (NIPT), offer early genetic screening for chromosomal conditions using just one tube of blood—as early as 10 weeks into a pregnancy. Noninvasive testing provides high detection rates, low false-positive results, and no risk to mother and baby.
Other prenatal screening and diagnostic tests may require more than one office visit, multiple blood draws, or carry a higher risk of false-positive results.1-4 Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, provide definite results for most chromosome conditions but have an associated risk of miscarriage.
Screening for common chromosome conditions
Martin Chavez, MD., a maternal-fetal medicine specialist, discusses noninvasive prenatal testing.
How Does NIPT Work?
NIPT analyzes cell-free DNA from a maternal blood sample (mixture of fetal and maternal DNA) to screen for common chromosomal conditions including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome).
The American Congress of Obstetricians and Gynecologists (ACOG) and International Society of Prenatal Diagnosis (ISPD), along with other professional societies, have stated that NIPT is an available screening option for all pregnant women.5,6
The NIPT workflow consists of several steps, and the complexity for each of these steps can vary widely between tests and the technical approach used. A typical workflow starts with isolating plasma from maternal blood draw. Cell-free DNA (cfDNA) is then extracted from plasma and prepared for analysis.
Data is generated from prepared cfDNA. Sophisticated analysis is then applied to the data.
Illumina NIPT uses whole-genome sequencing with next-generation sequencing (NGS) technology to analyze cfDNA fragments across the whole genome, which has proven advantages over other NIPT methodologies such as targeted sequencing and array-based methods. Test failure rates are substantially lower with whole-genome sequencing versus other methodologies.4, 7-9
With its high levels of sensitivity and accuracy, NGS produces the data quality needed for reliable analysis of the trace amounts of cfDNA found circulating within blood plasma.
Statistics of Cell-Free DNA Screening
Maternal fetal medicine specialist Dr. Tracy Prosen highlights the differences between screening and diagnostic prenatal tests.
New Guidelines Recommend Noninvasive Prenatal Testing for All
New guidelines from the American College of Obstetricians and Gynecologists (ACOG) recommend NIPT be made available to all pregnant women, regardless of maternal age or baseline risk. ACOG’s recommendations positively impact the quality of care for expectant mothers in more ways than one. This kind of unprecedented access will empower more parents to prepare and make informed pregnancy decisions.
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References
- Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.
- 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.
- Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
- 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.
- Committee Opinion No. 640: Cell-free DNA Screening for Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-37.
- Benn P, Borrell A, Chiu RWK, 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.
- 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.
- 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.
- 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(5): 527.e1-527.e17.