产前胎儿颈后透明层和颈后皮褶厚度联合母体血清学检测筛查胎儿染色体异常的临床价值

Clinical value of prenatal ultrasound soft-marker NT and NF combined with maternal serological detection for screening of fetal chromosomal abnormalities

摘要:

目的探讨产前超声软指标（USM）颈后透明层（NT）与颈后皮褶厚度（NF）联合母体甲胎蛋白（AFP）与绒毛膜促性激素β亚单位（β-HCG）检测筛查胎儿染色体异常的临床价值。方法选取2013年4月-2015年3月在该院产检的2 402 例孕妇为研究对象，依据染色体异常情况，分析孕妇孕期超声软指标NT、NF及其血清学检测结果与胎儿染色体异常的关系。结果2 402 例孕妇中，单一血清学筛查为高风险者198 例，单一USM高风险者76 例，两者并存高风险43 例，共检出34 例染色体异常胎儿。其中若单依据血清学筛查，其敏感性80.0%、特异性91.0%；若单依据USM 筛查，其敏感性57.1%、特异性95.8%，若联合两者进行筛查，其敏感性97.1%、特异性99.6%。结论超声软指标NT、NF 与血清学筛查联用有助于提高染色体异常胎儿早期筛查的敏感性及特异性。

Abstract:

Objective To discuss the clinical value of prenatal ultrasound soft-marker nuchal translucency (NT) and nuchal fold (NF) in combination with maternal alpha fetoprotein (AFP) and human chorionic gonadotropin beta subunit (β-HCG) for screening of fetal chromosomal abnormalities. Methods A total of 2,402 pregnant women in our hospital for prenatal check-ups from April 2013 to March 2015 were selected.The correlations between NT, NF, serological screening and fetal chromosomal abnormalities were analized. Results From the 2,402 cases, there were 198 high-risk cases by only serological screening and 76 high-risk cases by only ultrasound soft marker (USM) screening. In 43 high-risk cases, 34 cases of chromosomal abnormalities were found by combining serological and USM screening. The sensitivity was 80.0% and the specificity was 91.0% by only serological screening. The sensitivity was 57.1% and the specificity was 95.8% by only USM screening. However, The sensitivity was 97.1% and the specificity was 99.6% by combining serological and USM screening. Conclusions The sensitivity and specificity for early screening of fetal chromosomal abnormalities can be increased by combined serological and USM screening.