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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray

Fig. 1

Overview of study samples and classifications/results. *Includes a case of a suspected maternal 22q deletion on cfDNA confirmed in fetus to be maternally inherited and a case of a suspected maternal duplication on chromosome 21 on cfDNA that was confirmed in the fetus; maternal testing was not performed. **Includes two cases of XXX on cfDNA that were reported as suspected maternal abnormalities with no maternal testing performed. NR = non-reportable, NIPT = noninvasive prenatal testing, CNV = copy number variant, VUS = variant of uncertain significance, UPD = uniparental disomy, 45,X = monosomy X, T9 = trisomy 9, T18 = trisomy 18

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Molecular Cytogenetics

ISSN: 1755-8166