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. 2021 Aug 4;181(1):359–367. doi: 10.1007/s00431-021-04213-w

Fig. 4.

Fig. 4

Relative contribution of genetic assay establishing the conclusive genetic diagnosis in relation to moment of testing (panel A) and type of genetic alterations identified (panel B). Panel A UPD uniparental disomy. CNV copy number variant. SNV single-nucleotide variant. Panel B NIPT noninvasive prenatal testing. *Six abnormal NIPTs were confirmed with QF-PCR. QF-PCR quantitative fluorescent polymerase chain reaction. WES whole-exome sequencing