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. 2025 Jun;53(5):1131-1139.
doi: 10.1002/jcu.23983. Epub 2025 Mar 28.

Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita-A Systematic Review

Mario Brock Leao  1 , Marianna Facchinetti Brock  2 , Jorge Roberto Di Tommaso Leao  2 , Gianpaolo Grisolia  3 , Mario Lituania  4 , Samantha Erin Neumann  5 , Gabriele Tonni  6 , Rodrigo Ruano  7
Affiliations

Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita-A Systematic Review

Mario Brock Leao et al. J Clin Ultrasound. 2025 Jun.

Abstract

Arthrogryposis Multiplex Congenita (AMC) is characterized by the presence of multiple joint contractures in the fetus' body. The diagnosis of AMC is complex and often missed prenatally. This comprehensive review of the literature published over the last 20 years, with an emphasis on the role of prenatal ultrasound in predicting postnatal outcomes in a fetus with AMC, showed that ultrasound is a crucial tool to diagnose and prognosticate this rare disease. Different clinical manifestations of AMC are associated with different outcomes. Postnatal prognosis depends on several factors. Future multicenter prospective studies are necessary to investigate the prognostic factors associated with AMC.

Keywords: arthrogryposis multiplex congenita; outcomes; prenatal imaging; prognosis; ultrasound.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Flow diagram PRISMA 2020 of study selection. (From: Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. BMJ 2021;372:n71. *Records Excluded by title. **Records were outside of the period in which the review aimed to emphasize. ***Upon reading the full article, research focus and/or subject area of the report were outside of the scope of this review.
FIGURE 2
FIGURE 2
Classification of AMC by underlying causes of fetal akinesia. (Adapted from Langston and Chu, 2020).
FIGURE 3
FIGURE 3
Clinical classification of AMC based on level of musculoskeletal involvement. (Adapted from Hall et al. [11]).
FIGURE 4
FIGURE 4
AMC classification by etiological process. (Adapted from Hall 2014).
FIGURE 5
FIGURE 5
AMC classification by cardinal features. (Adapted from Hall et al. [11]).
FIGURE 6
FIGURE 6
Three‐dimensional ultrasound imaging showing abnormal positions of the upper and lower extremities of a fetus with AMC.
FIGURE 7
FIGURE 7
Flowchart of AMC diagnosis based on ultrasound in relation to gestational age.
FIGURE 8
FIGURE 8
Flowchart of management and prognosis of AMC. (Adapted from Filges and Hall [23] and Adamo et al. [34]).
See this image and copyright information in PMC

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