Prenatal radiographic evaluation of congenital transverse limb deficiencies: A scoping review

Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%. They can occur alone or represent a manifestation of a various clinical syndromes. Diagnosis has traditionally comprised of conventional radiography and prenatal imaging studies. There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.

To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.

This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly. Five search engines were searched for a total of 265 publications. Four authors reviewed these during the screening process. Of these, 51 studies were included in our article. Prenatal magnetic resonance imaging (MRI), 3D Ultrasound, and multidetector Computed tomography (CT) exist are emerging modalities that have the potential to improve diagnosis.

Use of the appropriate classification system, three-dimensional ultrasonography with a maximum intensity projection, and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.

Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies.