First-Trimester Diagnosis of Supernumerary Hemivertebra

Abstract

Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often implies vertebral defects, from a bifid vertebra to hemivertebrae, or fused vertebrae. We describe a case of supernumerary lateral hemivertebra detected prenatally at 12 weeks of gestation and the ultrasonography specifics that lead to early and accurate diagnosis, monitoring during pregnancy, and follow-up at the 4-year period. The case is presented to specify the importance of an early assessment of fetal spine and diagnosis of various conditions, including hemivertebrae, considering the significant association with other anomalies (cardiovascular, urinary, skeletal, gastrointestinal, and central nervous systems), which are most commonly involved. Moreover, the need to counsel future parents on the risks implied by this anomaly is important for the obstetrician. We underline the inclusion of these types of congenital conditions in high-risk pregnancy because of the frequent association with high cesarean delivery rates, growth restriction, delivery before term, and higher morbidity rates.

Congenital kyphoscoliosis associated with thoracic hemivertebrae in a nine-month-old Racking filly

“…This finding detects as an incidental finding on radiography or post-mortem specimens and does not contribute to neurological signs (Denoix, 2005;Wong et al, 2005). It has been shown that hemivertebra may be associated with other congenital musculoskeletal anomalies including spine, limbs, and ribs malformations, neural tube defects, and extramusculoskeletal anomalies including the cardiac, genitourinary, central nervous system, and gastrointestinal tract anomalies, probably due to anatomically unbalanced growth between hemivertebra and structural differentiation of surrounding spine (Bohiltea et al, 2022;Chaturvedi et al, 2018;Moser, 2005;Varras & Akrivis, 2010;Yang et al, 2020). Because the structure of the ribs is formed in close association with vertebrae during gestation, the same developmental failures that lead to hemivertebra are attributed to rib abnormalities (Fischer & Degenhardt, 2008).…”

Congenital kyphoscoliosis associated with thoracic hemivertebrae in a 9‐month‐old Racking filly

“…The latter include abnormalities of the heart, genitourinary system, central nervous system and gastrointestinal tract. These other lesions may arise due to anatomically unbalanced growth as a consequence of the hemivertebra and associated abnormalities in structural differentiation of tissues surrounding the vertebral column (Bohiltea et al, 2022; Chaturvedi et al, 2018; Moser, 2005; Varras & Akrivis, 2010; Yang et al, 2020). As the ribs develop closely with vertebrae during gestation, the same developmental failures that lead to hemivertebrae are attributed to rib abnormalities (Fischer & Degenhardt, 2008).…”

Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway

“…Considering that fetal vertebral malformation arises in the early stage of pregnancy, but X-ray irradiation and other examination methods cannot be used at this stage of pregnancy due to radiation risks and other reasons, it is of great clinical significance to develop an accurate and easy marker for the early diagnosis of CS. [ 30 , 31 ] However, due to the lack of maternal peripheral blood or umbilical cord blood samples taken during pregnancy, it is impossible to know at this point whether the levels of FGF23 mRNA in the maternal blood change during pregnancy when CS is present in the fetus. Therefore, whether the levels of FGF23 mRNA can be used for the early diagnosis of patients with CS needs further study.…”