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.
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