Sendout Options
Outsource sample processing to the Illumina CLIA lab when in-house facilities are not available.
Learn More通过NIPT的基因组方案来推动革新
不断发展的无创筛查选择，如无创产前检测（NIPT），可以提供染色体疾病的早期筛查，它只需一管血，早在怀孕10周时即可进行。
其他类型的产前筛查和诊断检测可能需要多次看医生、多次抽血，或假阳性的风险更高。1-4 产前诊断检测，如绒毛膜取样（CVS）或羊膜穿刺，可以给出大多数染色体疾病的明确结果，但存在流产的风险。
筛查常见的染色体疾病
Martin Chavez医学博士，一位母胎医学专家，对无创产前检测的讨论。
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.
游离DNA的统计数据
母胎医学会专家Tracy Prosen博士强调了筛查和诊断产前检查之间的差异。
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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参考文献
- 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.