Clinical value of prenatal DNA screening combined with fβ-hCG and Hcy in evaluating pregnancy outcomes
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摘要: 目的 研究孕中期胎儿DNA无创产前筛查(NIPT)联合血清绒毛膜促性腺激素β亚单位(fβ-hCG)、同型半胱氨酸(Hcy)进行高龄孕妇产前筛查的价值, 评估妊娠结局。方法 按标准选取高龄产妇126例, 以羊水穿刺胎儿染色体核型分析结果为金标准, 比较分析NIPT联合fβ-hCG、Hcy和单一筛查的价值。结果 126例高龄孕妇经羊水穿刺胎儿染色体核型分析检出阳性6例, 确诊三体综合征4例, 性染色体异常2例；NIPT检出阳性4例, 阴性122例, 其中三体综合征4例, 无假阳性患者；血清fβ-hCG检出阳性7例, 阴性119例, 其中三体综合征2例、性染色体异常1例、假阳性4例；血清Hcy筛查阳性9例, 阴性117例, 其中三体综合征2例、性染色体异常2例、假阳性5例；联合筛查检出阳性15例, 阴性111例, 其中三体综合征4例、性染色体异常2例、假阳性9例。单一筛查中NIPT的曲线下面积值(AUC)为0.833, 显著高于fβ-hCG(0.733)、Hcy(0.812)(P< 0.05)；敏感度为100.00%高于fβ-hCG(50.00%)、Hcy(66.67%)(P< 0.05)；而特异度为66.67%, 低于fβ-hCG(96.67%)、Hcy(95.83%)(P< 0.05)。联合筛查的AUC值为0.963, 显著高于单一筛查各项(P< 0.05), 敏感度为100.00%, 特异度为92.50%。结论 NIPT联合fβ-hCG与Hcy进行高龄孕妇产前筛查可以有效地评估其妊娠结局, 相比于单一筛查方式准确性更好。Abstract: Objective To study the value of non-invasive prenatal testing(NIPT) of fetal DNA in the second trimester combined with serum free-beta-human chorionic gonadotropin(fβ-hCG) and homocysteine(Hcy) in prenatal screening of elderly pregnant women, and evaluate pregnancy outcomes.Methods This study retrospectively reviewed 126 parturients admitted to the hospital. The results of fetal karyotype analysis through amniocentesis were taken as the golden standard to comparatively analyze the value of NIPT, fβ-hCG and Hcy alone and in combination screening.Results Of the 126 parturients enrolled, 6 cases were positive for fetal karyotype analysis through amniocentesis, 4 cases were diagnosed with trisomy, and 2 cases had abnormal sex chromosomes. NIPT detected 4 positive cases and 122 negative cases, including 4 cases of trisomy, and no false positive cases. Serum fβ-hCG detected 7 positive cases and 119 negative cases, including 2 cases of trisomy, 1 case of sex chromosome abnormality, and 4 false positive cases. Serum Hcy detected 9 positive cases and 117 negative cases, including 2 cases of trisomy, 2 cases of sex chromosome abnormalities, and 5 false positive cases. The combined screening found 15 positive cases and 111 negative cases, including 4 cases of trisomy, 2 cases of sex chromosome abnormalities, and 9 false positive cases. For single screening, the area under the curve(AUC) of NIPT was 0.833, which was significantly larger than that of fβ-hCG(0.733) and Hcy(0.812)(P< 0.05). Its sensitivity was 100.00%, significantly higher than that of fβ-hCG(50.00%) and Hcy(66.67%)(P< 0.05), while the specificity(66.67%) was lower than that of fβ-hCG(96.67%) and Hcy(95.83%)(P< 0.05). The AUC of combined screening was higher 0.963, which was significantly higher than that of each index screening(P< 0.05). Meanwhile, the sensitivity and specificity were 100.00% and 92.50%.Conclusion NIPT combined with fβ-hCG and Hcy for prenatal screening of elderly pregnant women can effectively assess their pregnancy outcomes, and it may be more accurate than single screening.
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Key words:
- elderly pregnant women /
- non-invasive prenatal testing /
- fβ-hCG /
- Hcy /
- pregnancy outcome
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表 1 联合筛查与单一筛查结果比较
参数 AUC(95%CI) Z P 约登指数 敏感度/% 特异度/% NIPT 0.833(0.757~0.894)1) 3.162 0.001 0.667 100.00 66.67 fβ-hCG 0.733(0.647~0.808)1)2) 2.081 0.037 0.467 50.00 96.67 Hcy 0.812(0.733~0.876)1)2) 2.954 0.003 0.625 66.67 95.83 联合筛查 0.963(0.913~0.988) 38.310 < 0.001 0.925 100.00 92.50 与联合筛查比较，1)P < 0.05；与NIPT比较，2)P < 0.05。 
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