Ultrasound Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare and Social Development of the Russian Federation, Moscow, Russia.

Case report:

This is a case of 24-year-old patient, G2P0, with her first pregnancy interrupted at 18 weeks due to multiple defects, including skeletal abnormalities and congenital heart disease.

Ultrasound scanning of this pregnancy revealed nuchal translucency at 12 weeks up to 6.2 mm and multiple joint contractures of upper and lower extremities. All major joints, elbow, wrist, knee and ankle were affected. The gestational age by her dates was 16-17weeks, while the ultrasound age was 14-15 weeks, with polyhydramnios. There were no other anomalies detected. The chorionic villi biopsy was performed. Fetus karyotype was 46, XX.

The parents opted to interrupt this pregnancy. Post morterm of the baby confirmed the diagnosis. 

Image 1-5:  Multiple joint contractures of upper and lower extremities