Which anomalies are indicated by ultrasound findings of radial ray anomalies?

The selection of Holt Oram syndrome, Thrombocytopenia Absent Radius (TAR) syndrome, and Fanconi anemia as anomalies indicated by ultrasound findings of radial ray anomalies is grounded in the established associations between these conditions and limb malformations.

Holt Oram syndrome is characterized by upper limb malformations, including radial ray anomalies, and often includes cardiac defects. It arises from mutations typically in the TBX5 gene, which is critical for limb and heart development. Radial ray anomalies are a hallmark of this condition, making a connection between the ultrasound findings and the diagnosis quite strong.

TAR syndrome specifically features the absence of the radius in the arms (radial aplasia) along with low platelet counts (thrombocytopenia). Ultrasound can reveal missing or underdeveloped radial bones, which directly connects to the evaluation for TAR syndrome during prenatal assessments, showcasing how these findings can lead to an accurate diagnosis.

Fanconi anemia is a genetic disorder that can present with a variety of physical anomalies, including radial ray defects. These defects can also be identified through prenatal ultrasound, and the condition is linked with other signs of bone marrow failure and susceptibility to cancers, marking its recognition in the context of radial ray anomalies.

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