| 阳剑,魏海波,姚克文,等.血清胎盘生长因子联合胎儿脉络丛囊肿情况对无创产前检测罕见染色体异常的诊断价值及与染色体微阵列分析联合核型分析的一致性分析[J].安徽医药,2026,30(4):771-776. |
| 血清胎盘生长因子联合胎儿脉络丛囊肿情况对无创产前检测罕见染色体异常的诊断价值及与染色体微阵列分析联合核型分析的一致性分析 |
| Diagnostic value of serum PLGF combined with fetal choroid plexus cysts in diagnosing rare chromosomal abnormalities in NIPT and the consistency analysis with CMA combined karyotype analysis |
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| DOI：10.3969/j.issn.1009-6469.2026.04.026 |
| 中文关键词: 染色体病 产前诊断 胎盘生长因子 胎儿脉络丛囊肿 染色体微阵列 核型分析 |
| 英文关键词: Chromosomal disease Prenatal diagnosis Placental growth factor Fetal choroid plexus cyst Chromosome microar-ray analysis Karyotype analysis |
| 基金项目:河北省保定市科技局科技计划项目( 2441ZF077) |
| 作者 | 单位 | E-mail | | 阳剑 | 保定市妇幼保健院,产前诊断中心,河北保定 071000
保定市妇幼保健院,保定市出生缺陷防控重点实验室,河北保定 071000 | | | 魏海波 | 保定市妇幼保健院,产前诊断中心,河北保定 071000
保定市妇幼保健院,保定市出生缺陷防控重点实验室,河北保定 071000 | | | 姚克文 | 保定市妇幼保健院,产前诊断中心,河北保定 071000
保定市妇幼保健院,保定市出生缺陷防控重点实验室,河北保定 071000 | 944462309@qq.com | | 尹爽 | 保定市妇幼保健院,产前诊断中心,河北保定 071000
保定市妇幼保健院,保定市出生缺陷防控重点实验室,河北保定 071000 | | | 袁宏涛 | 保定市妇幼保健院,产前诊断中心,河北保定 071000
保定市妇幼保健院,保定市出生缺陷防控重点实验室,河北保定 071000 | | | 果佳 | 保定市妇幼保健院,产前诊断中心,河北保定 071000 | | | 卢莹 | 保定市妇幼保健院,产前诊断中心,河北保定 071000
保定市妇幼保健院,保定市出生缺陷防控重点实验室,河北保定 071000 | |
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| 中文摘要: |
| 目的分析血清胎盘生长因子( PLGF)联合胎儿脉络丛囊肿( CPC)情况诊断对无创产前检测( NIPT)罕见染色体异常价值及与染色体微阵列分析( CMA)联合核型分析的一致性。方法选取 2022年 1月至 2024年 12月保定市妇幼保健院收治的 152例 18～24+6周因 NIPT异常高风险而行羊膜腔穿刺术和羊水核型分析及 CMA检测的孕妇作为研究对象。统计 CMA联合核型分析的罕见染色体异常情况，分析 NIPT诊断罕见染色体异常与 CMA、核型分析的符合率。根据 CMA联合核型分析确诊阳性情况分为阳性组( 93例)和阴性组( 59例)比较两组基线资料、血清 PLGF和 CPC情况，血清 PLGF、CPC对罕见染色体异常的影响及诊断价值，血清 PLGF联合 CPC的诊断，结果与 CMA联合核型分析的一致性。结果 152例 NIPT异常高风险孕妇中， CMA联合核型分析阳性预测值为 61.18%，NIPT诊断罕见染色体异常与 CMA符合率为 42.17%，NIPT诊断罕见染色体异常与核型分析符合率为 38.89%；阳性组 PLGF低于阴性组， CPC病人占比高于阴性组( P<0.05)；多因素 logistic回归分析显示，血清 PLGF是罕见染色体异常的独立相关保护因素， CPC是罕见染色体异常的独立相关危险因素( P<0.05)；血清 PLGF、CPC单独及联合诊断罕见染色体异常的 AUC分别为 0.75、0.58、0.86，联合诊断的 AUC最大( P<0.05)；血清 PLGF联合 CPC的诊断结果与 CMA联合核型分析的一致性为 88.82%。结论血清 PLGF联合 CPC可用于辅助诊断胎儿罕见染色体异常，且联合诊断价值，与 CMA联合核型分析诊断的一致性较高。 |
| 英文摘要: |
| Objective To analyze the value of serum placental growth factor (PLGF) combined with fetal choroid plexus cyst (CPC) indiagnosing rare chromosomal abnormalities in non-invasive prenatal testing (NIPT) and its consistency with chromosomal microarray analysis (CMA) combined with karyotype analysis.Methods A total of 152 pregnant women aged 18-24+6 weeks who underwent amnio-centesis and amniotic fluid karyotyping analysis and CMA testing due to abnormal high risk of NIPT in Baoding Maternal and ChildHealth Care Hospital from January 2022 to December 2024 were selected as the research subjects. Rare chromosomal abnormalities inCMA combined with karyotype analysis were counted. The consistency rate of NIPT diagnosis of rare chromosomal abnormalities withCMA and karyotype analysis was analyzed. According to the positive diagnosis of CMA combined with karyotype analysis, they were di-vided into positive group (93 cases) and negative group (59 cases). Baseline data, serum PLGF and CPC were compared between thetwo groups, as well as the impact of serum PLGF and CPC on rare chromosomal abnormalities and their diagnostic value. The diagnos-tic results of serum PLGF combined with CPC were consistent with those of CMA combined with karyotype analysis.Results Among the 152 pregnant women with abnormal high-risk NIPT, the positive predictive value of CMA combined with karyotype analysis was61.18%, the concordance rate between NIPT diagnosis of rare chromosomal abnormalities and CMA was 42.17%, and the concordance rate between NIPT diagnosis of rare chromosomal abnormalities and karyotype analysis was 38.89%. The PLGF level in the positivegroup was lower than that in the negative group, and the proportion of patients with CPC was higher than that in the negative group (P< 0.05); multivariate logistic regression analysis showed that serum PLGF was an independent protective factor for rare chromosomal ab-normalities, and CPC was an independent risk factor for rare chromosomal abnormalities (P<0.05); the AUC of serum PLGF and CPCalone and in combination for the diagnosis of rare chromosomal abnormalities was 0.75, 0.58, and 0.86, respectively, with the highestAUC for the combined diagnosis (P<0.05); the consistency between the diagnostic results of serum PLGF combined with CPC and CMAcombined with karyotype analysis was 88.82%.Conclusion Serum PLGF combined with CPC can be used to assist in the diagnosis ofrare fetal chromosomal abnormalities, and the combined diagnostic value is highly consistent with that of CMA combined with karyo-type analysis. |
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