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Table 7 Recommendations for genetic counseling

From: Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

  Grade Consensus agreement
R7.33 At the moment, PS is considered a sporadic disorder. Familial recurrence is really exceptional. Therefore, general counseling for sporadic cases in families with a previously affected child or for affected adults with negative family history should be reassuring concerning the chance of recurrence in a future pregnancy. Definitely useful/strong literature 100%
R7.34 Genetic counseling in families with multiple affected individuals should prompt the revision of the clinical diagnosis. If the diagnosis is confirmed in multiple affected individuals, genetic counseling should consider specific Mendelian inheritance patterns or, perhaps, multifactorial inheritance. Definitely useful/strong literature 87,5%
R7.35 Because the molecular basis of PS is mostly unknown a confirmatory molecular test applicable in prenatal diagnosis is not available and genetic counseling remains unsupported by laboratory tests. Definitely useful/strong literature 100%
R7.36 Cytogenomic, molecular and exomic investigations should be limited to the more complex cases; no routine laboratory investigation is available for confirming the diagnosis of PS. Possibly useful/modest literature 100%
R7.37 As PS is a congenital disorder, genetic counselling is recommended in all cases GCP (no literature available) 100%