. 2022 Feb 18;13(3):303–311. doi: 10.1007/s12687-022-00584-1

Table 1.

Criteria to guide termination of pregnancy-related decisions for genetic disorders in Oman

Guidelines defining eligibility for termination of pregnancy of genetic disorders*
1. The condition results in severe and debilitating congenital malformations or developmental outcomes or severe organ system dysfunction WITH NO presently available cure or therapy clinically proven to significantly alter these outcomes¹ 2. The condition is congenital or of infantile onset 3. The natural history of the condition is established. For ultra-rare conditions with poorly established natural history, the condition should have consistently followed the same clinical course among affected relatives in the same families or in families known to the genetic clinic 4. The condition does not show significant variability in severity of the phenotype or in penetrance in a way that impedes reliable prediction of the outcomes	5. The condition is genetically confirmed² (molecular confirmation or chromosomal where appropriate) 6. Only pathogenic (P) or likely pathogenic (LP) variants (Harrison et al 2019; Richards et al 2015) should be entertained as causative when considering families for prenatal diagnosis 7. Variants reported in clinical laboratories to be of uncertain significance maybe entertained only if reclassified by a clinical laboratory to P/LP based on further information supplied. For example, conclusive evidence from functional studies or clear biochemical perturbations or complete segregation of the variant with the phenotype

Guidelines defining eligibility for termination of pregnancy of genetic disorders*

Criteria pertaining to the condition

Criteria pertaining to diagnostic confirmation

1. The condition results in severe and debilitating congenital malformations or developmental outcomes or severe organ system dysfunction WITH NO presently available cure or therapy clinically proven to significantly alter these outcomes¹

2. The condition is congenital or of infantile onset

3. The natural history of the condition is established. For ultra-rare conditions with poorly established natural history, the condition should have consistently followed the same clinical course among affected relatives in the same families or in families known to the genetic clinic

4. The condition does not show significant variability in severity of the phenotype or in penetrance in a way that impedes reliable prediction of the outcomes

5. The condition is genetically confirmed² (molecular confirmation or chromosomal where appropriate)

6. Only pathogenic (P) or likely pathogenic (LP) variants (Harrison et al 2019; Richards et al 2015) should be entertained as causative when considering families for prenatal diagnosis

7. Variants reported in clinical laboratories to be of uncertain significance maybe entertained only if reclassified by a clinical laboratory to P/LP based on further information supplied. For example, conclusive evidence from functional studies or clear biochemical perturbations or complete segregation of the variant with the phenotype

¹Families with conditions that have ongoing phase III/IV therapeutic trials may only be considered for termination if they are of congenital, infantile, or of early childhood onset

²Certain conditions may be exempt from molecular confirmation. Examples would include conditions where the phenotype is well known to be lethal and obvious during prenatal diagnostic imagining such as anencephaly, pentalogy of Cantrell, and lethal skeletal dysplasias like achondrogenesis

^*Both condition and diagnostic criteria should be met before termination of pregnancy can be offered as an option