Early Prenatal Sonographic Diagnosis of Lethal Arthrogryposis Multiplex Congenita: A Case Presentation

Abstract

In this report, a 32 years old woman with increased nuchal translucency at 11th weeks of gestation and the diagnosis of Arthrogryposis Multiplex Congenita is demonstrated. After informing the family, chorion villus sampling (CVS) was performed. Fetal chromosomal analysis was reported as normal (XX). On control, lower and upper extremities had flexion contractures in 2D obstetrical ultrasonographic examination, besides bilateral club foot and absence of movement was detected. The family was informed and pregnancy was terminated. Lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at early weeks of gestation.

Keywords

• Arthrogryposis multiplex congenita, Prenatal diagnosis, Nuchal translucency