Figure 3 | Genetics in Medicine

Figure 3

From: A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

Figure 3

NIPS results for 80 couples at genetic risk for autosomal recessive nonsyndromic hearing loss. Plots of mutation percentages in plasma vs. patient sample number. (a) A1a1/ A1a1 carrier couples (n=25). Red squares denote a GJB2 mutation, red circles (•) denote a SLC26A4 mutation. (b) A1a1/A2a2 carrier couples (n=55). Red and blue squares denote the maternally and paternally inherited GJB2 alleles, respectively. Red (•) and blue (•) circles denote the maternally and paternally inherited SLC26A4 alleles, respectively. Black horizontal bars show the FAF % (0.5 × FF) and samples with a low FF (<6%) are indicated by asterisks. The observed (NIPS) genotypes deduced for each plasma sample and the expected (IPS) fetal genotypes are shown in boxes. Gray and red shading of the boxes indicates concordance and discordance between NIPS and IPS, respectively. IPS, invasive prenatal screening; NIPS, noninvasive prenatal screening.

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