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PubMed · 15134675

Communicating risk in prenatal genetic testing.

Abstract

Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman's preconceptions about her risk and about the condition being tested for.

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BibTeXRIS

Elena A Gates. Communicating risk in prenatal genetic testing.. https://doi.org/10.1016/j.jmwh.2004.02.014

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Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.

OBJECTIVE: To characterize the muscle involvement of patients with central core disease (CCD) caused by mutations in the ryanodine receptor 1 gene (RYR1) and to compare these findings with those from patients with core myopathies unlinked to the RYR1 gene. METHODS: We performed a systematic muscular imaging assessment in 11 patients with an RYR1 gene mutation and compared these findings with those of 5 patients from two unrelated families with autosomal dominant core myopathies not linked to RYR1, ACTA1, or MYH7 gene loci. RESULTS: All patients with RYR1 CCD had a characteristic pattern with predominant involvement of the gluteus maximus, adductor magnus, sartorius, vastus intermediolateralis, soleus, and lateral gastrocnemius muscles. In contrast, muscle CT in the first family not linked to RYR1 showed predominant affection of the gluteus minimus and hamstring muscles, whereas the second family presented with predominant involvement of the gluteus minimus, vastus intermediolateralis, tibialis anterior, and medial gastrocnemius muscles. In addition to muscle imaging data, we present detailed information on the clinical and pathologic findings of these novel phenotypes of core myopathies not linked to RYR1. CONCLUSIONS: Our data suggest genetic heterogeneity in autosomal dominant core myopathies and the existence of additional unidentified genes.

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