Publication:

Fetal akinesia deformation sequence: a case report and review of literature

Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and the primary diagnosis is made when lack of mobility is noted in routine ultrasound scanning. The increasing use of ultrasound has enabled earlier detection of these cases. A 20 year old primi in her routine ultrasound at 14weeks of gestation showed features fetal akinesia deformation sequence with increased nuchal translucency and hydrops. Early diagnosis, prenatal evaluation and better understanding of the ultrasound findings will be helpful for genetic counselling and clinical management.