Chromosomal Microarray Analysis and Prenatal Diagnosis

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

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

Journal of International Medical Research ◽

10.1177/0300060519853405 ◽

2019 ◽

Vol 47 (11) ◽

pp. 5508-5517 ◽

Cited By ~ 3

Author(s):

Jun-Ling Yi ◽

Wei Zhang ◽

Da-Hua Meng ◽

Li-Jie Ren ◽

Jin Yu ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Microarray Analysis ◽

Relevant Information ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Incremental Value ◽

Genetic Abnormalities ◽

Fetal Ventriculomegaly ◽

And Child Health ◽

Health Hospital

Objective To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA. Methods This 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. Results A 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. Conclusion Chromosomal microarray analysis is an efficient tool, significantly increasing the diagnostic power for prenatal diagnosis.

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