First-Trimester Diagnosis of Supernumerary Hemivertebra

Roxana Elena Bohiltea,Emilia Maria Vladareanu,Nicolae Bacalbasa,Vlad Dima,Ionita Ducu,Teodor Salmen,Bianca Margareta Mihai,Alexia-Teodora Bohiltea,Valentin Varlas,Ana-Maria Iordache

doi:10.3390/diagnostics12020373

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.

Highlights

As a proportion of 95%, congenital vertebral anomalies are clinically insignificant [1]
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]
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 component: 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 characterized by the liver, heart damage, along with vertebral segmentation defects

Summary

Introduction

As a proportion of 95%, congenital vertebral anomalies are clinically insignificant [1]. 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]. 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 component: 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 characterized by the liver, heart damage, along with vertebral segmentation defects. 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]

Methods

Results

Conclusion