The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

Frontiers in Pediatrics

Qi Luo²  Yingjun Xie³  Jianlong Zhuang⁴  Shuhong Zeng⁴  Yuying Jiang⁴  Yu'e Chen⁵  Lijing Shi⁵  Guorong Lyu⁶ 

[1] Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China;Department of Public Health for Women and Children, Quanzhou Women's and Children's Hospital, Quanzhou, China;Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China;Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China;Ultrasonography, Quanzhou Women's and Children's Hospital, Quanzhou, China;Ultrasonography, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China;

关键词: fetal growth restriction;    chromosomal microarray analysis;    karyotype analysis;    prenatal diagnosis;    copy number variants (CNVs);   

DOI  :  10.3389/fped.2021.743639

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown