Figure 1

The research principle of our study. To recover the fetal genome, we divided our work into several parts. We first recruited a family that included three entire generations. The parental genotypes were determined by whole genome sequencing, whereas the grandparents' were determined by SNP array. We then constructed parental haplotypes with a combined trio and unrelated-individual strategy. Assisted by the parental haplotypes, we successfully recovered the fetal genome via maternal plasma DNA sequencing. Finally, we performed a validation using the child's cord blood after the delivery.