analysis and its application to prenatal screening for aneuploidy is a rapidly changing field. Therefore, any recommendations regarding its use in screening also will likely evolve quickly. It will be critical to remain abreast of this rapidly changing technology to provide patients with the most effective, accurate, and cost-conscious methods for aneuploidy screening.
For More Information
These resources are for information only and are not meant to be comprehensive. Referral to these resources does not imply the American College of Obstetricians and Gynecologists’ endorsement of the organization, the organization’s web site, or the content of the resource. The resources may change without notice.
ACOG has identified additional resources on topics related to this document that may be helpful for ob-gyns, other health care providers, and patients. You may view these resources at: /More-Info/cfDNA.
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Conclusion
A discussion of the risks, benefits, and alternatives of various methods of prenatal screening and diagnostic testing, including the option of no testing, should occur with all patients. Such a discussion should include the advisability and applicability of cell-free DNA and other screening tests and the interpretation of test results, based on patient risk stratification. Although any patient may choose cell-free DNA analysis as a screening strategy for common aneuploidies regardless of her risk status, the patient choosing this testing should understand the limitations and benefits of this screening paradigm in the context of alternative screening and diagnostic options. Given the performance of conventional screening meth-ods, the limitations of cell-free DNA screening perfor-mance, and the limited data on cost-effectiveness in the low-risk obstetric population, conventional screening methods remain the most appropriate choice for first-line screening for most women in the general obstetric population. The technology involved in cell-free DNA
VOL. 126, NO. 3, SEPTEMBER 2015 Committee Opinion Cell-free DNA Screening for Fetal Aneuploidy e35
国际母胎医学会遗传学专业委员会(Committee on Genetics, Society for Maternal–Fetal Medicine)针对利用游离胎儿DNA筛查非整倍体(cell-free DNA screening for fetal aneuploidy)的建议。
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Z, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prena-tal aneuploidy testing. Am J Obstet Gynecol 2014;211:527.e1–527.e17. [PubMed] [Full Text] ^ 12. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet