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Individuals with disabilities continue to experience exclusion from mainstream contexts amid stereotypical constructions of disability as an inferior status. To address these inequities, we contend that the ramifications for both theory and praxis in disability research rests heavily on the way in which disability is theorized. In this article, we draw on the findings of a narrative inquiry as a context to frame an alternative theoretical model for disability research at both individual and social levels. We propose the efficacy of an integrated theoretical approach using the vehicle of narrative inquiry to present alternative stories by individuals with disabilities themselves. In alignment with a poststructuralist epistemology, we propose the addition of Lacanian psychoanalysis to address the construct of internalized oppression felt at an individual psychological level. We conclude that the epistemological and ontological lens through which research is conceptualized has the power either to subjugate or to emancipate individual experience.

Objective: This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype.Methods: Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all had normal standard genetic testing yield (karyotyping and microarray).Results: In 10 of 12 fetuses, panel sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: FGFR3, COL1A2, IHH, COL2A1, and DYNC2H1. Two cases revealed novel variants in COL2A1 and DYNC2H1.Conclusions: Our study suggests that targeted skeletal gene panel sequencing is highly sensitive for prenatal diagnosis of fetuses presenting with unexpected ultrasound findings suggestive of a skeletal dysplasia. [ABSTRACT FROM AUTHOR]