Prenatal sonographic diagnosis of hemivertebrae: associations and outcomes

The purpose of this study was to evaluate associated anomalies and outcomes of fetuses with prenatally diagnosed hemivertebrae.

Fetuses with prenatally diagnosed hemivertebrae, excluding those associated with spina bifida, were identified by searching the prospectively maintained ultrasound databases of 4 institutions from 1997 to August 2007. Associated birth defects were tabulated by organ system and hemivertebra location. Outcomes included karyotypes, gestational ages, and routes and outcomes of deliveries.

Nineteen fetuses had a diagnosis of hemivertebrae at a mean gestational age +/- SD of 20.5 +/- 5.4 weeks. Fourteen (73.7%) fetuses had additional anomalies, of which 5 (35.7%) were syndromic (4 with cloacal exstrophy and omphaloceles and 1 with Jarcho-Levin syndrome). Karyotypes were normal in all 11 available cases, each of which had additional anomalies. Fourteen (73.7%) neonates were live born at a mean gestational age of 34.9 +/- 4.3 weeks, of which 7 (50%) were born by cesarean delivery. Ten neonates (71.4%) were delivered before term, and 4 (28.6%) were growth restricted (<10th percentile). Two (14.3%) of these neonates died; both had cloacal exstrophy and large omphaloceles. The remaining pregnancies were terminated (4 [21.1%]) or had a fetal death (1 [5.3%]).

Most fetuses with prenatally diagnosed hemivertebrae have additional anomalies, often syndromic, which affect the prognosis. Affected pregnancies have high rates of cesarean delivery and growth restriction. Neonates with nonisolated hemivertebrae are more often delivered before term and have higher mortality rates.