Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital

Abstract

ObjectiveTo evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA.MethodsThis retrospective study enrolled female patients with ultrasonographically diagnosed fetal ventriculomegaly. The prevalence, associated anomalies and clinical outcomes of ventriculomegaly were evaluated based on data from a single maternal and child health hospital in southwest China.ResultsA total of 943 cases of ventriculomegaly were analysed in this study, which were diagnosed at a mean ± SD gestational age of 23.8 ± 8.2 weeks. Non-isolated ventriculomegaly cases had a significantly higher maternal age than isolated cases (29.6 ± 5.5 versus 27.9 ± 4.2 years, respectively) and were also associated with a larger proportion of bilateral (56.1% versus 46.7%, respectively) and severe (12.8% versus 3.7%, respectively) ventriculomegaly. There were 97 cases detected by both karyotyping and microarray analysis. All apparent chromosome abnormalities identified upon karyotyping were detected with the use of microarray analysis. Microarray analysis also reported genetic abnormalities in 20 additional cases not detected by karyotyping. Of these additional 20 cases, 9.3% of pregnancies reported standard genetic variants for clinically relevant information, whereas 11.3% reported uncertain genetic abnormalities.ConclusionChromosomal microarray analysis is an efficient tool, significantly increasing the diagnostic power for prenatal diagnosis.

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

“…Until recently, several studies have focused on the relationship between foetal ventriculomegaly and chromosomal aberrations and have reported prevalence of chromosomal aberrations ranging from 5.1 to 17.4% [8][9][10][11][12][13][14] . We speculate that such a wide range could be due to different distribution of the ventriculomegaly degrees or combined ultrasound abnormalities among different studies.…”

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

“…Group B: A total of 44 were secondarily excluded from quantitative analysis. Of these, 34 dealt with specific single-district malformations , 2 included postnatal cases [120,121], 3 dealt only with cases from fetuses' demise or livebirths [122][123][124], 3 did not provide a proper distinction between US features [125][126][127], 1 dealt familial cases of heart disease [128], and 1 concerned twin pregnancies [129]. A total of 71 papers were eligible for quantitative analysis [6,: 44 were retrospective studies, 12 were prospective, and 15 did not declare pro-or retrospectivity.…”

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes

“…Current techniques used for genetic testing of fetuses with ultrasound abnormalities include karyotype analysis and chromosomal microarray analysis (CMA). Karyotype analysis is presently the gold standard for prenatal diagnosis, but its resolution is low 1 . Thus, submicroscopic deletions or duplications (smaller than 3–5 Mb) may not be detected with traditional cytogenetic analysis unless additional techniques such as fluorescence in situ hybridization (FISH) are used.…”