Table 1.

Summary of Included Studies.

Year of Publication (N = 16)	Number of Studies
2020–2016	9
2010–2015	7
Country of Study (N = 13*)
Australia	3
Canada	1
Israel	1
The Netherlands	3
UK	2
USA	3
Population†
Average risk	5
Heterozygotes	7
Increased risk couples	5
Decliners of RGCS	2
Increased risk ethnic group before results available	1
RGCS results not disclosed (Dor Yesharim)	1
Intervention†
Haemoglobinopathies	3
Targeted panel in founder population	5
Expanded carrier screening (ECS)	3
Cystic fibrosis (CF)	2
3-gene panel (CF, FXS, SMA)	2

Heterozygotes = one reproductive partner heterozygote for a recessive condition; Increased risk couples = female partner heterozygous for an X-linked condition, or both partners heterozygous for a recessive condition; Average risk = normal screening result with residual risk, Dor Yesharim = a confidential premarital screening program available in Jewish communities.

*16 publications from 13 studies.

^†Some studies included multiple populations or interventions.