Ultrasonographic and pathologic features in fetal arthrogryposis multiplex congenita / 中华超声影像学杂志

ABSTRACT

Objective:To summarize the prenatal sonographic characteristics of affected joints of fetal arthrogryposis multiplex congenita (AMC) by comparing the ultrasonographic features and the postnatal pathological manifestations.Methods:The cases of AMC detected by antenatal ultrasound and confirmed by postnatal pathology were collected in the First Affiliated Hospital of Sun Yat-Sen University and Kaiping Central Hospital from January 2015 to June 2020. The differences between prenatal ultrasonic manifestations, types of affected joints and postnatal pathological features were analyzed. And the different involvements of joints in AMC cases with or without other system abnormalities were also explored separately.Results:A total of 31 cases of AMC were included, in which 11 cases were with other system abnormalities and 20 cases without. No significant difference was observed in number of affected joints between these two groups ( P>0.05). The prenatal sonogram features were completely consistent with the postnatal pathological manifestations in 21 (21/31, 67.7%) cases. Among 31 cases, the involvement rates of joints were interphalangeal joints of fingers (23/31, 74.2%), knee joints (20/31, 64.5%) and ankle joints (19/31, 61.3%), temporomandibular joint (11/31, 35.5%), wrists (11/31, 35.5%), elbow joints (10/31, 32.3%), interphalangeal joints of toes (6/31, 19.4%), spinal joints (2/31, 6.5%), shoulder joint (1/31, 3.2%) and hip joint (1/31, 3.2%), respectively. The coincidence rates of prenatal ultrasound in involved joints were interphalangeal joints of fingers (100%), ankles (100%), spines (100%), hips (100%), wrists (90.9%), knees (75.0%), elbows (70.0%), jaws (54.5%), interphalangeal joints of toes (50.0%), and shoulders (0), respectively. Conclusions:When postural abnormalities of fetal upper and lower extremities are detected by prenatal ultrasound screening, especially overlapping fingers, extended knee and club foot, AMC should be kept on alert. Simultaneously, other joints should be carefully scanned to improve the prenatal detection rate of AMC.