摘要
目的探讨早孕期NT超声筛查联合孕母血清指标检测对胎儿结构畸形和染色体异常的诊断价值。方法选择2022年5—8月在龙岩人民医院进行早孕期产前筛查的300名孕妇作为研究对象,进行NT超声筛查,记录超声检查结构畸形胎儿数据,考察NT超声检查联合孕期血清生化指标检测对胎儿结构畸形的诊断效能,分析染色体异常胎儿超声指标与血清指标以及正常核型胎儿的超声软指标分布。结果300例超声检查检出结构畸形胎儿6例(2.00%),其中心血管系统畸形3例,神经系统畸形1例,四肢畸形1例,颜面部畸形1例。超声筛查联合血清生化指标检测的敏感度明显高于超声筛查单独应用(90.00%比75.00%,P<0.05),而特异度、阳性预测值、阴性预测值、诊断符合率差异均无统计学意义。正常核型胎儿颈项透明层厚度(NT)明显低于异常核型胎儿(mm:1.71±0.37比4.80±0.83,P<0.05),异常核型胎儿的血清妊娠相关蛋白(APP-A)<0.42 MoM、β-人绒毛膜促性腺激素(β-h GG)>0.42 MoM。结论早孕期NT超声筛查联合孕母血清生化指标检测对胎儿结构畸形和染色体异常的诊断价值较高,可在产前筛查中推广。
Objective To explore the diagnostic value of NT ultrasound screening combined with maternal serum biochemical indicators for fetal structural malformations and chromosomal abnormalities in early pregnancy.Methods The 300 pregnant women undergoing prenatal screening during early pregnancy in Longyan People’s Hospital from May to August 2022 were selected and screened with NT ultrasound,and the fetal data of structural abnormalities were recorded.The diagnostic efficacy of ultrasound combined with prenatal serum examination for fetal structural malformations was investigated,and the distribution of ultrasound indicators,serological indicators and ultrasound soft indicators of normal karyotypes in fetuses with chromosomal abnormalities were analyzed.Results Six in 300 fetuses(2.00%)with structural malformations were detected by ultrasound examination,including 3 cases with cardiovascular system malformations,1 case with nervous system malformation,1 case with limbs malformation and 1 case with facial malformation.The sensitivity of ultrasound combined with serum biochemical indicators was higher than that of ultrasound alone(90.00%vs.75.00%,P<0.05),and there were no significant differences in specificity,positive predictive value,negative predictive value and diagnostic coincidence rate.Nuchal translucency(NT)of fatus with normal karyotype was lower than that of fatus with abnormal karyotype(mm:1.71±0.37 vs.4.80±0.83,P<0.05).In fetus with abnormal karyotype,the pregnancy associated plasma protein(PAPP-A)was<0.42 MoM,andβ-human chorionic gonadotrophic hormone(β-HCG)was>0.42 Mo M.Conclusion The NT ultrasound combined with maternal serum biochemical indicators detection in the diagnosis of fetal structural malformations and chromosomal abnormalities has high clinical diagnostic value and is worthy of popularization in prenatal screening.
作者
郑开贤
Zheng Kaixian(Department of Clinical Laboratory,Longyan People's Hospital,Longyan 364000,Fujian,China)
出处
《实用检验医师杂志》
2022年第4期390-393,共4页
Chinese Journal of Clinical Pathologist
关键词
早孕期NT超声
血清生化指标检测
胎儿结构畸形
染色体异常
NT ultrasound in early pregnancy
Serum biochemical index detection
Fetal structural malformation
Chromosomal abnormality