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It is usually a feature of abnormal neurologic development or primary muscular disorders of the fetus. More than 400 conditions are associated with this finding, which makes a specific prenatal diagnosis challenging.
Fetal arthrogryposis detected with prenatal ultrasound imaging is defined as ≥2 joint contractures in >1 body area. Arthrogryposis is not a specific diagnosis but rather is a descriptive term for multiple contractures that can be associated with many different medical conditions.
Arthrogryposis is a clinical finding caused by a lack of fetal movement (fetal akinesia). The severity of arthrogryposis is related directly to the duration of decreased fetal movement. Characteristic ultrasound findings include flexion abnormalities of both the proximal and distal joints (Figure 1); these are usually seen with decreased or absent movement of the affected extremity. In addition to the extremities, the jaw, spine, and fetal neck can also be involved; attention should be paid to the mobility of these joints as well.
When arthrogryposis is suspected, a detailed ultrasound examination should be performed to detect other abnormalities that may give insight into the underlying cause and guide patient counseling. Three-dimensional ultrasound imaging sometimes can provide more detailed information about the affected extremity
Abnormalities in every organ system have been reported in association with arthrogryposis. An increased nuchal translucency and cystic hygroma have been reported in the first trimester and may indicate lethal forms of arthrogryposis.
Micrognathia, cleft palate, hypertelorism, fetal growth restriction, pulmonary hypoplasia, and mildly shortened long bones comprise the phenotype known as fetal akinesia sequence or Pena-Shokeir phenotype.
Arthrogryposis may be inherited as an autosomal recessive, autosomal dominant, or X-linked trait, and some cases are thought to have multifactorial inheritance, with both genetic and environmental factors. Maternal infections (eg, rubella, Zika, and Coxsackievirus) and environmental factors have also been associated with arthrogryposis; therefore, obtaining a history of maternal exposures and a family history is important.
Karyotype analysis or fluorescence in situ hybridization with reflex to CMA may be reasonable if a common aneuploidy is suspected. Gene panel testing or exome sequencing may be useful because CMA does not detect single-gene (Mendelian) disorders; more than 350 gene variants have been reported to cause different types of arthrogryposis. Testing for spinal muscular atrophy and congenital myotonic dystrophy in particular should be considered. If exome sequencing is pursued, appropriate pretest and posttest genetic counseling by a provider experienced in the complexities of genomic sequencing is recommended.
International Society for Prenatal Diagnosis, Society for Maternal Fetal Medicine, Perinatal Quality Foundation Joint position statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis.
If the pregnancy ends in a stillbirth or neonatal death, an autopsy should be offered. After appropriate counseling, cell-free DNA screening is an option for patients who decline diagnostic testing, although it is likely to have a low diagnostic yield because aneuploidy causes only a small number of cases.
Pregnancy and Delivery Management
A detailed ultrasound examination should be performed and should include comprehensive imaging of the intracranial structures (eg, a neurosonogram) and the fetal heart. A fetal echocardiogram and fetal magnetic resonance imaging to assess for intracranial abnormalities should be considered if cardiac or central nervous system abnormalities are suspected or with other clinical indications (eg, enlarged nuchal translucency). Testing for maternal viral infections should be considered, including rubella, Zika, and Coxsackievirus, if risk factors are present. Referrals to pediatric neurology, orthopedics, and neonatology should be considered. Pregnancy termination is an option that should be discussed with all patients in whom a fetal anomaly is detected. Shared patient decision-making requires thorough evaluation and multidisciplinary counseling regarding prognosis. The specific finding of arthrogryposis generally does not affect delivery management, although delivery at a tertiary care center with pediatric genetics, neurology, and orthopedic consultation may be considered to be appropriate for the clinical findings. If the jaw or cervical spine is suspected to be involved, a multidisciplinary approach and the involvement of neonatology, anesthesiology, and potentially otolaryngology services to assure airway access at birth may be required.
The prognosis of arthrogryposis depends on the underlying cause, the extent of the contractures, and associated abnormalities. In some cases, the contractures can improve with postnatal treatment, and early physiotherapy and orthopedic intervention are recommended to help with joint motility. Some infants who are born with arthrogryposis will have a good outcome, although the prognosis is dependent on the underlying cause.
Arthrogryposis or arthrogryposis multiplex congenita is defined as ≥2 joint contractures in >1 body area and is present in 1 in 3000 live births.
It is usually a marker for abnormal neurologic development or primary muscular disorders of the fetus. When suspected, a detailed ultrasound examination should be performed to detect other abnormalities that may give insight into the underlying cause and guide patient counseling. Because more than 400 conditions are associated with this finding,
genetic counseling should be offered. Mode of delivery should be based on usual obstetric indications. The prognosis will depend on the underlying cause; however, with the appropriate physiotherapy and orthopedic intervention, many infants with isolated arthrogryposis have a good outcome.
in: Cassidy S. Allanson J. Management of genetic syndromes. 2nd ed. Wiley & Sons,
Hoboken (NJ)2005: 63-75
International Society for Prenatal Diagnosis, Society for Maternal Fetal Medicine, Perinatal Quality Foundation
Joint position statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis.