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Article

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

12 Nov 2013

Abstract excerpt

OBJECTIVE: The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS: Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were identified using a median absolute deviation based z-score equation. A bioinformatics...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 24222400
DOI: 10.1002/pd.4278

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