产前超声检查“软指标”与“硬指标”的临床解读与管理

梁爽, 常颖

中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (2) : 154-157.

PDF(999 KB)
PDF(999 KB)
中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (2) : 154-157. DOI: 10.19538/j.fk2026020107
专题笔谈

产前超声检查“软指标”与“硬指标”的临床解读与管理

作者信息 +

Clinical interpretation and management of ultrasound “soft indicators” and “hard indicators”in prenatal ultrasound examination

Author information +
文章历史 +

摘要

产前超声检查是胎儿结构筛查与评估的重要手段。随着分辨率的提升与循证医学的积累,超声指标已从经验性识别演变为基于风险分层的精细化管理工具。“硬指标”作为结构性畸形的直接证据,是启动侵入性产前诊断与多学科诊疗的明确指征;而“软指标”属于轻微的超声表现,其临床意义的解读高度依赖于是否孤立存在、母体背景风险及相关的分子遗传学检测结果等。进入分子医学时代后,随着无创产前筛查、染色体微阵列技术以及高通量测序技术等的广泛应用,临床医生应了解和掌握如何构建“影像识别-风险分层-分子诊断-预后评估-个体化咨询”的整合式诊疗范式,学会如何从影像的静态识别走向循证量化、从静态异常记录走向系统性病理推理。

Abstract

Prenatal ultrasound examination is an important means for screening and evaluating fetal structures. With the improvement in resolution and the accumulation of evidence-based medicine,ultrasound indicators have evolved from empirical identification to refined management tools based on risk stratification. "Hard markers" serve as direct evidence of structural malformations and are clear indications for initiating invasive prenatal diagnosis and multidisciplinary treatment. "Soft markers", on the other hand,represent minor ultrasound manifestations,and the interpretation of their clinical significance is highly dependent on whether they occur in isolation,the background risk of the mother,and the results of related molecular genetic testing.On entering the era of molecular medicine,with the widespread application of non-invasive prenatal screening,chromosomal microarray technology,and high-throughput sequencing technology,clinicians should understand and master how to construct an integrated diagnosis and treatment model of "image recognition-risk stratification-molecular diagnosis-prognosis assessment-individualized counseling",and learn how to move from static image recognition to evidence-based quantification and from abnormal static records to systematic pathological reasoning.

关键词

产前超声 / 软指标 / 硬指标 / 遗传学检测 / 风险分层管理

Key words

prenatal ultrasound / soft markers / hard makers / genetic testing / risk stratification management

引用本文

导出引用
梁爽, 常颖. 产前超声检查“软指标”与“硬指标”的临床解读与管理[J]. 中国实用妇科与产科杂志. 2026, 42(2): 154-157 https://doi.org/10.19538/j.fk2026020107
LIANG Shuang, CHANG Ying. Clinical interpretation and management of ultrasound “soft indicators” and “hard indicators”in prenatal ultrasound examination[J]. Chinese Journal of Practical Gynecology and Obstetrics. 2026, 42(2): 154-157 https://doi.org/10.19538/j.fk2026020107
中图分类号: R714.5   

参考文献

[1]
Mangla M, Kumar N. First trimester ultrasound soft markers in a fetus:genetic associations and diagnostic implications[J]. Matern Fetal Med, 2025, 7(4):244-255. DOI:10.1097/FM9.0000000000000301.
[2]
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Obstetrics, Committee on Genetics, Society for Maternal-Fetal Medicine. Screening for fetal chromosomal abnormalities:ACOG practice bulletin,number 226[J]. Obstet Gynecol, 2020, 136(4):e48-e69. DOI:10.1097/AOG.0000000000004084.
[3]
Alluhaybi AA, Altuhaini K, Ahmad M. Fetal ventriculomegaly:a review of literature[J]. Cureus, 2022, 14(2):e22352. DOI:10.7759/cureus.22352.
[4]
Kagan KO, Hoopmann M, Sonek J. Second trimester soft markers:still worth to be mentioned?[J]. Arch Gynecol Obstet, 2025, 311(5):1233-1240. DOI:10.1007/s00404-025-08021-7.
[5]
Giorgione V, Haratz KK, Constantini S, et al. Fetal cerebral ventriculomegaly:What do we tell the prospective parents?[J]. Prenat Diagn, 2022, 42(13):1674-1681. DOI:10.1002/pd.6266.
[6]
Di Mascio D, Sileo FG, Khalil A, et al. Role of magnetic resonance imaging in fetuses with mild or moderate ventriculomegaly in the era of fetal neurosonography:systematic review and meta-analysis[J]. Ultrasound Obstet Gynecol, 2019, 54(2):164-171. DOI:10.1002/uog.20197.
[7]
Society for Maternal-Fetal Medicine(SMFM), Monteagudo A, Kuller JA, et al. Mild fetal ventriculomegaly:diagnosis,evaluation,and management[J]. Am J Obstet Gynecol, 2018, 219(1):B2-B9. DOI:10.1016/j.ajog.2018.04.039.
[8]
Li X, Hu T, Xiao X. Expert consensus on fetal ventriculomegaly:evidence-based recommendations for 23 key clinical questions[J]. Front Pediatr, 2025, 13:1678359. DOI:10.3389/fped.2025.1678359.
[9]
Society for Maternal-Fetal Medicine(SMFM), Prabhu M, Kuller JA, et al. Society for Maternal-Fetal Medicine Consult Series #57:Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester:(Replaces Consults #10,Single umbilical artery,October 2010;#16,Isolated echogenic bowel diagnosed on second-trimester ultrasound,August 2011;#17,Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound,December 2011;#25,Isolated fetal choroid plexus cysts,April 2013;#27,Isolated echogenic intracardiac focus,August 2013)[J]. Am J Obstet Gynecol, 2021, 225(4):B2-B15. DOI:10.1016/j.ajog.2021.06.079.
[10]
Spingler T, Sonek J, Hoopmann M, et al. Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21,18 or 13[J]. Arch Gynecol Obstet, 2024, 310(2):749-755. DOI:10.1007/s00404-023-07311-2.
[11]
Pan L, Wu J, Liang D, et al. Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses[J]. Am J Obstet Gynecol MFM, 2023, 5(10):101072. DOI:10.1016/j.ajogmf.2023.101072.
[12]
Jones HE, Battaglia S, Hurt L, et al. Echogenic intracardiac foci detection and location in the second-trimester ultrasound and association with fetal outcomes:A systematic literature review[J]. PLoS One, 2024, 19(4):e0298365. DOI:10.1371/journal.pone.0298365.
[13]
Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second-trimester markers for trisomy 21[J]. Ultrasound Obstet Gynecol, 2013, 41(3):247-261. DOI:10.1002/uog.12364.
[14]
Lee RS, Cendron M, Kinnamon DD, et al. Antenatal hydronephrosis as a predictor of postnatal outcome:a meta-analysis[J]. Pediatrics, 2006, 118(2):586-593. DOI:10.1542/peds.2006-0120.
[15]
Kim U, Jung YM, Oh S, et al. Chromosomal microarray analysis in fetuses with ultrasonographic soft markers:a meta-analysis of the current evidence[J]. J Korean Med Sci, 2024, 39(8):e70. DOI:10.3346/jkms.2024.39.e70.
[16]
Huang Y, Liu C, Ding H, et al. Exome sequencing in fetuses with short long bones detected by ultrasonography:A retrospective cohort study[J]. Front Genet, 2023, 14:1032346. DOI:10.3389/fgene.2023.1032346.
[17]
Xie X, Su L, Li Y, et al. Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone[J]. Arch Gynecol Obstet, 2024, 309(6):2475-2482. DOI:10.1007/s00404-023-07122-5.
[18]
陆尧胜, 李致远, 白杰云, 等. 人工智能在产科全孕程管理中的应用与展望[J]. 中国实用妇科与产科杂志, 2026, 42(1):124-128.DOI:10.19538/j.fk2026010126.
[19]
Xue S, Liu Y, Wang L, et al. Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China[J]. Front Genet, 2024, 15:1347942. DOI:10.3389/fgene.2024.1347942.
[20]
Wang Y, Yin F, Chai Y, et al. Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city,China[J]. Front Genet, 2023, 14:1301439. DOI:10.3389/fgene.2023.1301439.
[21]
文燕青, 漆洪波. 多学科团队诊疗——提高救治效果[J]. 中国实用妇科与产科杂志, 2024, 40(10):978-981.DOI:10.19538/j.fk2024100105.

脚注

利益冲突 所有作者均声明不存在利益冲突

基金

国家自然科学基金面上项目(82571979)
天津市工健委高层次人才项目(TJWJ2024RC017)

PDF(999 KB)

Accesses

Citation

Detail

段落导航
相关文章

/