134例生长受限胎儿产前诊断结果分析

目的 分析生长受限胎儿产前诊断结果,明确其染色体异常的检出率及类型。方法 134例生长受限胎儿,通过羊膜腔穿刺、脐静脉穿刺或分娩后留取胎儿组织的方法,应用羊水细胞核型分析及低深度全基因组测序的方法对胎儿染色体核型及基因拷贝数变异进行分析。结果 134例生长受限胎儿中,染色体异常13例,异常检出率9.7%,其中病理性基因拷贝数异常9例,高于核型异常检出;孤立性生长受限胎儿的染色体异常发病率(3/41,7.3%),与综合征性生长受限的染色体异常发病率(10/93,10.8%)相比,差异无统计学意义(P=0.762)。结论 胎儿生长受限病因复杂,染色体异常是其常见病因之一。对于生长受限胎儿的产前诊断,除了常规的核型以外,还需要重视基因拷贝数变异的检测。

Chromosomal analysis in 134 cases of fetuses with growth restriction

Objective To explore the chromosomal analysis for fetuses with fetal growth restriction (FGR). Methods This was a retrospective study on 134 pregnancies with fetal growth restriction which underwent prenatal diagnosis,including amniotic fluid, cordocentesis, or fetal tissue after abortion. The kayotype and copy number variations (CNVs) were performed by G320-banding and copy number variation sequencing, and the indication of the procedures and results were evaluated. Results Among 134 cases with indication of fetal growth restriction, 13 (9.7%, 13/134) cases were diagnosed with chromosome abnormities,including nine cases with pathogenic CNVs. There were 3 cases with chromosomal abnormalities in 41 cases with isolated FGR (3/41, 7.3%), the incidence was lower than that with syndromic FGR (10/93, 10.8%), but no significant difference between two groups (P=0.762). Conclusion The incidence of chromosomal abnormalities in fetus with FGR was higher and prenatal diagnosis is recommended for all types of the disease. It is recommended to place a priority on CNVs in prenatal diagnosis.”