Table 2 DGV rates for three largest cohorts.

From: Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Lord et al.4

Prospective cohort

Sample size = 610

De novo dominant DGV: 61.5% (32/52)

Overall inherited DGV: 36.5% (19/52)

AR Inherited DGV: 14/52

AD inherited DGV: 5/52

UPD: 1.9% (1/52)

Petrovski et al.5

Prospective cohort

Sample size = 234

De novo dominant DGV: 63% (15/24)

Inherited DGV: 37% (9/24)a

AR Inherited DGV: 6/24

AD inherited DGV: 3/24

Normand et al.14

Retrospective cohort

Sample size = 146

De novo dominant DGV: 43.5% (20/46)

Inherited DGV: 56.5% (26/46)b

AR Inherited DGV: 19/46

AD inherited DGV: 3/46

XL inherited DGV: 4/46

  1. AD autosomal dominant, AR autosomal recessive, DGV diagnostic genetic variant,UPD uniparental disomy, XL X-linked.
  2. aCalculated from individual DGV rates (autosomal recessive, autosomal dominant inherited) from the study.
  3. bCalculated from individual DGV rates (autosomal recessive, autosomal dominant inherited, X-linked inherited) from the study.
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