2019 Archives - Global NIPT Consortium https://niptconsortium.com/category/2019/ Noninvasive Prenatal Testing (NIPT) Consortium Thu, 30 Nov 2023 18:25:29 +0000 en-US hourly 1 TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands https://niptconsortium.com/trident-2-national-implementation-of-genome-wide-non-invasive-prenatal-testing-as-a-first-tier-screening-test-in-the-netherlands/ Sun, 01 Dec 2019 02:10:30 +0000 https://niptconsortium.com/?p=9698 van der Meij KRM, Sistermans EA, Macville MVE, et al. Am J Hum Genet. 2019;105(6):1091-1101. doi:10.1016/j.ajhg.2019.10.005. Open Access: Learn more Tags: Clinical Experience / Clinical Utility, 2019, Netherlands, RAAs, CNVs This publication describes results from a nationwide implementation study in the Netherlands that examined the use of NIPT as a first-tier test offered to all […]

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]]> van der Meij KRM, Sistermans EA, Macville MVE, et al. Am J Hum Genet. 2019;105(6):1091-1101. doi:10.1016/j.ajhg.2019.10.005. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2019, Netherlands, RAAs, CNVs

  • This publication describes results from a nationwide implementation study in the Netherlands that examined the use of NIPT as a first-tier test offered to all pregnant women, with the option to have findings beyond trisomies 21, 18, and 13 reported based on patient request. 78% of pregnant women chose to have these additional findings reported to them.

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]]> Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing https://niptconsortium.com/noninvasive-prenatal-testing-for-fetal-subchromosomal-copy-number-variations-and-chromosomal-aneuploidy-by-low-pass-whole-genome-sequencing/ Sun, 01 Dec 2019 02:07:40 +0000 https://niptconsortium.com/?p=9690 Yu D, Zhang K, Han M, et al. Mol Genet Genomic Med. 2019;7(6):e674. doi:10.1002/mgg3.674. Open Access: Learn more Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs, CNVs This publication reports on the development and evaluation of a low-pass whole genome sequencing assay for the detection of fetal CNVs and chromosomal aneuploidies in 20,003 pregnant […]

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]]> Yu D, Zhang K, Han M, et al. Mol Genet Genomic Med. 2019;7(6):e674. doi:10.1002/mgg3.674. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs, CNVs

  • This publication reports on the development and evaluation of a low-pass whole genome sequencing assay for the detection of fetal CNVs and chromosomal aneuploidies in 20,003 pregnant women.

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]]> Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes https://niptconsortium.com/clinical-utility-of-noninvasive-prenatal-screening-for-expanded-chromosome-disease-syndromes/ Sun, 01 Sep 2019 02:08:12 +0000 https://niptconsortium.com/?p=9692 Liang D, Cram DS, Tan H, et al. Genet Med. 2019;21(9):1998-2006. doi:10.1038/s41436-019-0467-4. Open Access: Learn more Tags: Clinical Experience / Clinical Utility, 2019, China, RAAs, CNVs This publication examined the clinical performance of Expanded NIPT for both aneuploidy and genome-wide microdeletion/microduplication syndromes in an all-risk pregnancy population. A cohort of 94,085 patients with singleton pregnancies […]

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]]> Liang D, Cram DS, Tan H, et al. Genet Med. 2019;21(9):1998-2006. doi:10.1038/s41436-019-0467-4. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2019, China, RAAs, CNVs

  • This publication examined the clinical performance of Expanded NIPT for both aneuploidy and genome-wide microdeletion/microduplication syndromes in an all-risk pregnancy population. A cohort of 94,085 patients with singleton pregnancies were prospectively enrolled. This Expanded NIPT detected a clinically significant fetal chromosome abnormality in 1.2% of samples and calculated the respective PPVs for the screen positive abnormalities.

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]]> Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies https://niptconsortium.com/non-invasive-prenatal-testing-to-detect-chromosome-aneuploidies-in-57204-pregnancies/ Thu, 31 Jan 2019 02:08:50 +0000 https://niptconsortium.com/?p=9694 Xue Y, Zhao G, Li H, et al. Mol Cytogenet. 2019;12:29. Published 2019 Jun 20. doi:10.1186/s13039-019-0441-5. Open Access: Learn more Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs This publication retrospectively examined the performance of Expanded NIPT for all chromosome aneuploidies in 57,204 pregnancies from the Suzhou area of China and highlighted potential biological […]

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]]> Xue Y, Zhao G, Li H, et al. Mol Cytogenet. 2019;12:29. Published 2019 Jun 20. doi:10.1186/s13039-019-0441-5. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs

  • This publication retrospectively examined the performance of Expanded NIPT for all chromosome aneuploidies in 57,204 pregnancies from the Suzhou area of China and highlighted potential biological reasons for discordant results.

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