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Fig. 1 | Genome Medicine

Fig. 1

From: Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Fig. 1

Molecular diagnostic rates based on phenotype. a Molecular diagnostic rate is higher in fetuses with abnormalities affecting multiple organ systems (p = 0.018; see Additional file 1: Table S5 for non-significant group comparisons). The number of fetuses in each category is indicated on the relevant bar graph. Each top-branch category was only counted once per fetus. b Molecular diagnostic rates are shown for fetuses with (+) or without (−) abnormalities in the stated organ system or top-level HPO category. Fetuses with craniofacial abnormalities were significantly more likely to receive a molecular diagnosis than those without (p = 0.013). Significant p values (p < 0.05) are indicated by (*), Fisher’s exact test

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