A Practical Prenatal Ultrasound Classification System for Lower Limb Anomalies-PRELLIM Classification.

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-09-06 DOI:10.1002/pd.6885
Arda Arduç, Margriet H M van Doesburg, Melinda M E H Witbreuk, Merel C Van Maarle, Elisabeth van Leeuwen, Eva Pajkrt, Ingeborg H Linskens
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引用次数: 0

Abstract

Objective: To address the current lack of a prenatal classification system for fetal lower limb anomalies, we developed and evaluated the PRELLIM (PREnatal Lower LIMb impairment) classification.

Method: A systematic literature review was conducted to identify existing classifications. Based on sonographic features, we developed the PRELLIM classification and applied it to a retrospective cohort of fetuses with isolated lower limb anomalies assessed between 2007 and 2024 at Amsterdam UMC's fetal medicine unit.

Results: No standardized prenatal classification system for lower limb anomalies was found. PRELLIM distinguishes isolated and non-isolated anomalies and categorizes them into clinically relevant subgroups (absent/short, duplication, fusion, contracture, bowing and other). It was applied to 643 fetuses with isolated lower limb anomalies. Contractures were most common (n = 599; 93.2%), followed by poly(syn)dactyly (n = 26; 4.0%), reduction defects (n = 9; 1.5%), bowing (n = 5; 0.8%), and a case of sirenomelia (0.1%). Three additional cases (0.4%) were classified as "other": two lymphangiomas and one amniotic band with lower leg constriction.

Conclusion: PRELLIM is the first prenatal classification tailored to sonographically detectable lower limb anomalies. It aims to enhance diagnostic consistency, improve interdisciplinary communication, and support prenatal counseling and decision-making.

一种实用的产前超声分类系统——prellim分类。
目的:为了解决目前胎儿下肢异常缺乏产前分类系统的问题,我们开发并评估了PRELLIM(产前下肢损伤)分类。方法:进行系统的文献回顾,以确定现有的分类。基于超声特征,我们开发了PRELLIM分类,并将其应用于阿姆斯特丹UMC胎儿医学部门2007年至2024年间评估的孤立下肢异常胎儿的回顾性队列。结果:未发现规范的产前下肢畸形分类体系。PRELLIM区分孤立性和非孤立性异常,并将其分类为临床相关亚组(缺失/短、重复、融合、挛缩、弯曲等)。应用于643例孤立性下肢畸形胎儿。挛缩最常见(n = 599, 93.2%),其次是多指畸形(n = 26, 4.0%)、复位缺陷(n = 9, 1.5%)、弓形(n = 5, 0.8%)和子宫裂1例(0.1%)。另外3例(0.4%)被归类为“其他”:2例淋巴管瘤和1例羊膜带伴下肢缩窄。结论:PRELLIM是第一个针对超声检测下肢异常量身定制的产前分类。它旨在提高诊断的一致性,改善跨学科的交流,并支持产前咨询和决策。
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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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