产前超声表现与胎儿染色体异常的关系分析

Analysis of the Relationship Between Prenatal Ultrasound Findings and Fetal Chromosomal Abnormalities

目的探讨产前超声表现与胎儿染色体异常的关系,并根据超声检查结果为合理实施侵袭性产前诊断技术提供依据。方法回顾性分析进行羊水细胞染色体检查的7908例孕妇的产前超声表现,其中292例羊水细胞染色体检查异常,了解其超声征象与染色体疾病类型的关系。结果292例羊水细胞染色体检查异常患者中,同时存在产前超声异常82例(28.08%),其中超声软指标异常59例(20.21%),结构畸形12例(4.11%),合并指征11例(3.77%)。结论超声检查的软指标和结构异常可为羊水染色体检查提供有力证据,提高产前侵入性诊断的准确性,减少和避免漏诊。

Objective To investigate the correlation between prenatal ultrasound findings and fetal chromosomal abnormalities,and to provide a basis for rational implementation of invasive prenatal diagnosis based on ultrasound findings.Methods The prenatal ultrasound findings of 7908 pregnant women who underwent chromosome examination of amniotic fluid cells were retrospectively analyzed.Among them,292 cases had abnormal chromosome examination of amniotic fluid cells.Results Among 292 cases with abnormal chromosome examination of amniotic fluid cells,82 cases(28.08%)had abnormal prenatal ultrasound,including 59 cases(20.21%)with abnormal soft indicators,12 cases(4.11%)with structural malformations,and 11 cases(3.77%)with combined indications.Conclusion The soft index and structural abnormality of ultrasonography can provide strong evidence for chromosome examination of amniotic fluid,improve the accuracy of prenatal invasive diagnosis,reduce and avoid missed diagnosis.