ResearchGeneticsNon-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
Section snippets
Study population
This was a prospective, cohort study comprising pregnant women aged ≥18 years, at gestational age ≥10 weeks, with a singleton pregnancy, who were planning to undergo invasive prenatal diagnosis for any indication. Subjects who were pregnant with >1 fetus, or who themselves had a known aneuploidy, had active malignancy or a history of metastatic cancer, or had already undergone CVS or amniocentesis during the current pregnancy were excluded.
Subjects were prospectively enrolled after providing
Study participants
A total of 4002 pregnant women were enrolled in the study from Aug. 1, 2010, through Nov. 1, 2011, across 3 countries. Samples from all 3 countries were analyzed together as a single cohort given the use of specialized blood collection tubes that preserve cfDNA in blood for up to 14 days.19 Of the 4002 plasma samples obtained, 433 samples were used for assay development with a subset of these reported on previously.16 An additional 341 samples were ineligible prior to analysis for failing to
Comment
This study demonstrates the efficacy of a chromosome-selective approach to cfDNA testing for fetal T21 and T18. Overall, this approach had 100% sensitivity and 99.97% specificity for T21 and 97.4% sensitivity and 99.93% specificity for T18 in this large cohort of primarily high-risk women. The improvement in sequencing efficiency achieved by the DANSR platform provides a more affordable, scalable approach to cfDNA analysis with high throughput and potential for widespread clinical utility.
In
Acknowledgments
We would like to thank the following institutions and individuals for recruiting subjects into the study: Stanford University, Stanford, CA: Amit Levi; Riverside Perinatal Diagnostic Center, Riverside, CA: Bobby Brar, Shelley Mueller; Institute of Prenatal Diagnosis and Reproductive Genetics, San Gabriel, CA: Yolanda Brown; University of California–San Diego, San Diego, CA: Susan Mayo, Aileen Fernando; San Gabriel Valley Perinatal Medical Group, West Covina, CA: Norma Sidhu; Cedars-Sinai
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2023, Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second EditionThe Dysmorphic Infant
2023, Avery's Diseases of the NewbornPrevention of Down syndrome: genetic counseling, prenatal screening, testing, awareness, attitude, and socio-cultural and public health aspects
2022, Genetics and Neurobiology of Down Syndrome
This study was financially supported by Ariosa Diagnostics.
A.B.C., M.E.M., and H.L. are consultants; M.E.M. and K.S. are board members; and D.H., A.B.S., A.O., and K.S. are paid employees of Ariosa Diagnostics. M.E.N. is co-principal investigator on NCT01511458, sponsored by Ariosa Diagnostics.
Cite this article as: Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207:137.e1-8.