Abstract：Objective To investigate the efficacy of pregnancy-associated plasma protein A (PAPP-A), nuchal translucency (NT) value and β-human chorionic gonadotropin (β-HCG) detection in diagnosing fetal chromosomal and genetic disorders. Methods We selected 83 pregnant women with fetal chromosomal and genetic disorders (the study group) and 83 ones without fetal chromosomal and genetic disorders (the control group) who underwent prenatal examination in Panzhihua Municipal Maternal and Child Health Care Hospital from January 2018 to December 2019, and then retrospectively analyzed their clinical data. The levels of NT, PAPP-A and β-HCG were compared between the two groups. Pearson was used to analyze the correlation of NT with PAPP-A and β-HCG. Multiple logistic regression equation was used to analyze the association of NT, PAPP-A and β-HCG with fetal chromosomal and genetic disorders, and the receiver operating characteristic (ROC) curve and area under the curve (AUC) were applied to analyzing the efficacy of the above-mentioned indicators in diagnosing fetal chromosomal and genetic disorders. Results The NT value and β-HCG level were higher in the study group than in the control group, but the PAPP-A level was lower in the study group than in the control group (P<0.05). There was a positive correlation between β-HCG level and NT value, and a negative correlation between PAPP-A level and NT value (P<0.05). The levels of NT, PAPP-A and β-HCG hadsignificant correlation with fetal chromosomal and genetic disorders (P<0.05). The AUC, cut-off value, sensitivity and specificity of NT for the diagnosis of fetal chromosomal and genetic disorders were 0.756, >2.8 mm, 73.49% and 63.86%, respectively (P<0.05). The AUC, cut-off value, sensitivity and specificity of PAPP-A for the diagnosis of fetal chromosomal and genetic disorders were 0.835, ≤ 2,727.22 mIU/L, 75.90% and 75.90%, respectively (P<0.05). The AUC, cut-off value, sensitivity and specificity of β-HCG for the diagnosis of fetal chromosomal and genetic disorders were 0.786, > 32.72 mIU/L, 60.24% and85.54%, respectively (P<0.05).The AUC, sensitivity and specificity of NT+PAPP-A+β-HCG for the diagnosis of fetal chromosomal and genetic disorders were 0.896, 71.08%, 93.98%, respectively (P<0.05). Conclusions Increased NT value and β-HCG and decreased PAPP-A in fetuses with chromosomal and genetic disorders are significantly related to chromosomal inheritance. Detecting the levels of the three indicators can provide important reference information for clinical diagnosis of fetal chromosomal and genetic disorders.
刘佳, 张方芳, 杨照静. PAPP-A、NT值及β-HCG检测在胎儿染色体遗传疾病中诊断效能研究[J]. 实用预防医学, 2021, 28(2): 199-202.
LIU Jia, ZHANG Fang-fang, YANG Zhao-jing. Diagnostic efficacy of PAPP-A, NT value and β-HCG detection for fetal chromosomal and genetic disorders. , 2021, 28(2): 199-202.
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