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Table 2 Assay validation on amniotic fluid and CVS samples

From: Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Description

Normal samples

Abnormal samples

Normal

109/109

–

Aneuploidies of 13, 18, 21, X and Y

–

70/70

Microdeletion syndromes

–

6/6

Single gene diseases

–

15/15a

  1. aSamples were found to be heterozygous (carriers) for targeted mutations
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Molecular Cytogenetics

ISSN: 1755-8166