Management of Fetal Ultrasound Soft Makers
Correlation between fetal borderline ventriculomegaly and chromosomal abnormalities
Min He, Sha Hu, Ting Hu, Zhu Zhang, Hong Luo
Published 2018-10-25
Cite as Chin J Obstet Gynecol, 2018, 53(10): 660-664. DOI: 10.3760/cma.j.issn.0529-567x.2018.10.002
Abstract
ObjectiveTo assess the association between fetal borderline ventriculomegaly (VM) diagnosed by prenatal ultrasound and chromosomal abnormality.
MethodsSonographic manifestation and chromosome of 129 cases with borderline VM diagnosed by prenatal sonography were analyzed retrospectively. All subjects were divided into 3 groups, 80 cases (62.0%, 80/129) in isolated VM (IVM) group, 27 cases (20.9%, 27/129) of VM with no additional structural abnormality group (including ultrasonic soft marker, abnormal volume of amniotic fluid and fetal growth restriction) and 22 cases (17.1%, 22/129) of VM with structural abnormality. Furthermore, the IVM group was sub-grouped according to fetal sex, lesion position and degree of expansion. The results of chromosome detection in different sub-group were analyzed statistically.
Results(1) Overall situation: in 129 enrolled cases of borderline VM, 8 cases of chromosomal abnormality were detected by CMA and the positive detection rate was 6.2% (8/129) , of which 2 cases were abnormal karyotype and 6 cases were pathologic copy number variation (p-CNV) . (2) The results of fetal chromosomal abnormalities detected in 3 groups: there were no case of abnormal karyotype and 4 cases of p-CNV in IVM group, the detection rate of chromosome abnormalities was 5.0% (4/80) . One case of abnormal karyotype and 2 cases of p-CNV in VM with no additional structural abnormality group, the detection rate was 11.1% (3/27) . One case of abnormal karyotype and no case of p-CNV in VM with structural abnormality group, the detection rate was 4.5% (1/22) . There were no significant difference among 3 groups (all P>0.05) .
ConclusionsThe risk of chromosomal abnormaliy increases in fetus with borderline VM. When the fetal VM is found by ultrasound, it is necessary to perform comprehensive scanning and regular follow-up. Fetal chromosomes examination is recommended.
Key words:
Hydrocephalus; Chromosome aberrations; Ultrasonography, prenatal; Microarray analysis; DNA copy number variations
Contributor Information
Min He
Department of Ultrasound, Key Laboratory of Birth Defects and Women Children′s Diseases, Ministry of Education, West China Second Hospital, Sichuan University, Chengdu 610041, China
Sha Hu
Ting Hu
Zhu Zhang
Hong Luo
