The prenatal diagnostic in the arthrogryposis multiplex congenita. Presentation of three cases and the systematic revision of the literature.

Abstract

Arthrogryposis Multiplex Congenita (AMC) is a pathology characterised by neuromuscular and connective tissue disorders, leading to the limitation of the foetal joint mobility, muscular contractures and rigidity. The aetiology is variable and multi-factor. In most cases the AMC does not have a genetic determinism, however for 28-30% of the cases, the transmission is genetic, dominant, recessive or related to the X chromosome. The study includes 3 cases, with ages between 26 and 38, with foeti prenatally diagnosed with congenitala. One of the cases presented the recurrence of AMC (a foetus with AMC, the second foetus normal, the foetus included in the study with AMC). The amniocentesis was practiced on two of the cases, normal karyotype 46,XX. The TORCH testing was negative in all cases. The foetal ultrasonographic evaluation pointed out the following aspects – normal foetal growth, polyhydramnios, the fixity of the extremities, the exaggerated flexion of the upper limbs, congenital talipes equinovarus, knee hyperextension (i.e. bilateral genu recurvatum), abnormal position of the fingers, very rare or absent movements of opening and closing the palm, generalised hypokinesia, foetal immobility with no response to stimuli. No other associated malformation has been identified. The systematic ultrasonographic examination, the identification of the associated anomalies and their correlation led to the correct diagnosis of the AMC. The postnatal aspect was obvious and very suggestive, in accordance with the elements identified through ultrasound. The foetal prognostic depends on the associated anomalies, on the gravity of affecting the respiratory function and on the degree of the often moderated, rarely lethal orthopaedic limitation.