The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction

Abstract

Abstract Objective Chromosomal variations are known to play a role in the etiology of fetal growth restriction (FGR). Here, we intend to investigate the significance of Chromosomal Microarray Analysis (CMA) in the prenatal diagnosis of definite FGR. Method 182 pregnant women with FGR participated in our study, undergoing CMA to identify chromosomal abnormalities. The cohort was categorized into isolated FGR, FGR with ultrasound soft marker abnormalities, and FGR associated with structural malformations. Results The detection rates of PCNVs in FGR with structural anomalies are significantly higher than those in the isolated FGR group and the FGR group with abnormal ultrasound soft markers (19.0% vs. 2.1%, 19% vs. 1.5%; χ²=9.33, p = 0.005). Compared to FGR with a single system malformation, the diagnostic rate of chromosomal variations in FGR with multiple system malformations is markedly increased (60% vs. 6.3%; p = 0.028). Advanced maternal age, early-onset FGR, and severe FGR do not appear to influence the diagnostic rate of chromosomal variations (p > 0.05). Conclusion Chromosomal variations pose a significant risk in FGR with structural abnormalities, associated with the number of organ systems involved. Notably, advanced maternal age, early-onset FGR, and severe FGR do not affect the diagnostic rate of chromosomal variations in FGR.

Keywords

• Fetal growth restriction
• Chromosomal microarray analysis
• Prenatal diagnosis
• Ultrasound abnormalities
• Copy number variation