Articole medicale

First-Trimester Diagnosis of Supernumerary Hemivertebra

As a proportion of 95%, congenital vertebral anomalies are clinically insignificant [1]. However, these conditions can reflect in compression of the spinal cord and are divided into anomalies of the vertebral shape and number. Among all congenital vertebral anomalies, the highest probability of producing neurologic disabilities corresponds to hemiverte- brae [2]. Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body, having an incidence of 3/10,000 live births [3]. In fact, they are so rare that a recent study [4] found only 324 cases in a time frame of 34 years (1984–2019). This condition can present either as solitary or as a syndrome compo- nent: i.e., the split notochord syndrome, which often implies vertebral defects, from a bifid vertebra to hemivertebrae, or fused vertebrae [5] or Alagille syndrome, which is character- ized by the liver, heart damage, along with vertebral segmentation defects. Furthermore, hemivertebrae can be a part of the clinical aspect of the Robinow syndrome, dominated by mesomelia or acromesomelia, radioulnar synostosis, brachy-dactylia, syndactyly, ec- trodactyly, and craniofacial defects (micrognathia, macrocephaly, depressed nasal bridge, and hypertelorism) [6]. Moreover, hemivertebrae can be found as a congenital skeletal disability within fetal alcohol spectrum disorder [7]. 

Other syndromes that could imply the presence of hemivertebra are Jarcho-Levin syndrome, OEIS, and VACTERL syndrome. The association with spina bifida is not uncommon [8]. 

Thus, a chromosomal analysis can be offered even if the incidence of karyotypic abnormalities is low amongst fetuses with isolated vertebral malformation, but there is an increased risk for spina bifida in siblings [9].

Depending on the site of the development defect, hemivertebrae are classified as ven- tral, lateral, or dorsal. The affected half of the vertebral body may be absent or hypoplastic, respectively, the same for the pedicle or the rib, at the thoracic level.

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