Fig. 4: Overview of the results of the PREGCARE study showing refinement of individual recurrence risk for all families. | Nature Communications

Fig. 4: Overview of the results of the PREGCARE study showing refinement of individual recurrence risk for all families.

From: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Fig. 4

a Summary table of the PREGCARE results for the 59 DNMs analyzed in this study and overview of the refined recurrence risk (RR). b Personalized recurrence risk (RR%) estimates for each of the 60 families (61 DNMs) enrolled in the PREGCARE study represented on a logarithmic scale. The red dotted line represents the generic population RR given to couples who have had a child with a DNM (~1.5%). Individual family numbers are indicated on the x-axis. Each bar represents the new refined RR for a given family enrolled into the PREGCARE study. For ease of visualization, bars are coloured according to the origin of the DNM [blue (paternal), pink (maternal), green (post-zygotic/proband) or grey (the parental origin could not be resolved)]. The RR can be quantified for DNMs of paternal (Categories A–C, via semen analysis, blue) and post-zygotic (Category G, green) origin (represented by block colours); note that to be conservative in our estimates of RR, the plotted bars represent the upper 95% binomial CI from the corrected VAF measured in sperm samples by Deep-NGS for each of the paternally-derived DNMs (Supplementary Data 2). The RR can only be estimated for maternal (pink) or haplotype-unresolved cases (grey). These estimates are represented by stripes, with error bars representing the upper and lower 95% CI—see Supplementary Note 6 for details on estimate calculations. Note that the DNM of FAM54 was analyzed by allele-specific PCR (Supplementary Note 2) and that Category F includes the two additional families with multiple affected pregnancies (FAM17 and FAM60).

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