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Fig. 2 | Molecular Cytogenetics

Fig. 2

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

Fig. 2

Foetal abnormality detection in prenatal samples. In total, 200 prenatal samples (amniotic fluid and CVS) were subjected to prenatal diagnosis using the same single comprehensive assay. All normal and abnormal samples were correctly classified. The x-axis denotes the targeted chromosomes (chr 13, 18, 21, X). The y-axis represents the normalized read depth per TACS (dots). Red dots denote positive calls. The panels show the detection of a Trisomy 21, b Monosomy X, c Trisomy 13, d Trisomy 18

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Molecular Cytogenetics

ISSN: 1755-8166