Abstract
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.
Highlights
An increase in pathogenic copy number variants has been recognized to associate with fetal growth restriction (FGR)
This study is similar to that reported in the literature [2, 6, 11, 12], which showed a great advantage of chromosomal microarray analysis (CMA) technology in the prenatal diagnosis of FGR over karyotyping
In the present study, we believe that Xq28 deletion and Xp22.33 duplication may be the genetic etiology for FGR
Summary
An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). FGR is one of the most common and complex diseases in obstetrics, which is an important factor for perinatal morbidity and death. It may result in long-term adverse outcomes, including childhood cognitive impairment and increased adult diseases [1]. The karyotype analysis technology can identify the large structural variants and chromosome aneuploidy in FGR, the resolution is still limited. A large-scale study indicated that CMA can detect an additional 10% of pathogenic copy number variants over karyotype analysis in FGR with structural abnormalities [6]. Present studies revealed that LOH and UPD are observed in FGR [7, 8]
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