Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly

Abstract

Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.

Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome

“…In infants with ventricular dilatation, severe ventriculomegaly associated with other malformations has a higher incidence of abnormal genetic testing than ventriculomegaly without malformations. In the literature, estimated abnormal genetic testing for ventriculomegaly without malformations is less than 10% . Similarly in our cohort, only five patients had chromosomal or clinically identified syndromes, with only one child with VATER and RES.…”

“…In the literature, estimated abnormal genetic testing for ventriculomegaly without malformations is less than 10%. [18][19][20] Similarly in our cohort, only five patients had chromosomal or clinically identified syndromes, with only one child with VATER and RES. Although more than two thirds of our cohort had genetic testing, we believe that the relatively lower incidence of genetic syndromes in our cohort may reflect our decision to exclude patients with central nervous system malformations such as encephaloceles and cystic posterior fossa malformations, particularly those with congenital muscular dystrophies.…”

Ventriculomegaly in very‐low‐birthweight infants with Down syndrome

“…Ventriculomegaly is diagnosed in utero (via ultrasonography) when the atrial diameter of one or both fetal lateral ventricles of the brain are measured as >10mm after 15 weeks' gestation. 3 Because of this known association, karyotyping of the fetus is indicated whenever fetal ventriculomegaly is detected. Studies have reported the prevalence of fetal ventriculomegaly to vary from 1 to 22 per 1000 pregnancies, and ventriculomegaly is strongly associated with an increased risk of a chromosomal anomaly.…”

Presence of chromosomal abnormalities in fetuses with isolated ventriculomegaly on prenatal ultrasound in China

“…We believe that our result could be used for prenatal consulting to recommend chromosome analysis in a fetus with isolated VM. The common chromosomal abnormalities associated with VM are trisomies 13, 18, and 21 (Gezer et al, 2014;Sethna, Tennant, Rankin, & C. Robson, 2011), and those with advanced maternal age are trisomy 21, trisomy 18, XXX, and XXY (Halliday, Watson, Lumley, Danks, & Sheffield, 1995;Hook, Cross, Jackson, Pergament, & Brambati, 1988). We did not observe cases of trisomy 13 and 18, potentially due to the association with trisomy 13 and 18 to multiple malformations, which were excluded in our study.…”