Fig. 1: Molecular detection rates based on organ system involvement. | European Journal of Human Genetics

Fig. 1: Molecular detection rates based on organ system involvement.

From: Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

Fig. 1

Diagnostic rates are shown for fetuses with malformations in a specific organ system with identified pathogenic or likely pathogenic variants (dark gray), variants of unknown significance (VUS; medium gray), and no identified diagnostic variant (light gray). “Multiple malformations” indicates the involvement of ≥2 organ systems. Examples of isolated nervous system malformations: hydrocephalus, agenesis of the corpus callosum, cerebellar hypoplasia, lissencephaly; of the genitourinary system: renal agenesis, polycystic kidneys; of the skeletal system: multiple fractures, shortened limbs, intrauterine growth retardation (IUGR).

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