Table 2.
The genomic outcomes of our study have informed management for 12 future pregnancies in 10 families, of which 5 elected preimplantation genetic diagnosis (PGD) and 5 had prenatal diagnosis (PND). AR, autosomal recessive; AD, autosomal dominant; XLR, X-linked recessive; hom, homozygous; ch, compound heterozygous
| PED ID | Genomic autopsy outcome | Inheritance (gene) | Reproductive history before genomic autopsy | Assisted reproductive choice | Outcome |
|---|---|---|---|---|---|
| 001 | Solved | AR-hom (FGFR2) | One affected pregnancy | PND (×1) | One affected pregnancy (liveborn) |
| 002 | Solved | AR- hom (DNAJB11) | Two affected pregnancies | PGD (×1) | One unaffected child |
| 005 | Solved | AR-ch (MKS1) | Four affected pregnancies | PGD (×2) | Two unaffected children |
| 013 | Solved | AR-ch (PIBF1) | One affected pregnancy | PGD (×1) | Single unaffected embryo failed to implant |
| 017 | Solved | AR-ch (TPI1) | One affected pregnancy | PGD (×1) | One unaffected child |
| 040 | Candidate | AR-ch (LAMC3) | One affected pregnancy | PND (×2) | Two unaffected children |
| 043 | Solved | AD, paternal mosaic (PBX1) | One affected pregnancy | PND (×1) | One affected pregnancy (stillborn) |
| 051 | Candidate | AD, variable penetrance (ZFPM2) | Two affected pregnancies; maternal grandmother and great-uncle also affected | PND (×1) | One unaffected child (but has familial variant) |
| 056 | Solved | XLR, maternal (ARSL) | Two affected pregnancies | PGD (×1) | One unaffected child (girl) |
| 098 | Solved | AR-ch (POLG) | Two affected pregnancies | PND (×1) | One unaffected child |