Centro Médico Imbanaco. Unidad de Diagnóstico Prenatal, Calli Colombia

This is a 23-year-old primigravida with an unremarkable history, scanned for a routine exam at 26 weeks.The findings included: facial dysmorphism, with absent nasal bone.

Clinodactyly

Rockerbottom feet,

Diaphragmatic hernia with extreme dextroposition.

And a severe growth restriction with two-vessel cord.

We performed a cordocentesis and the final diagnosis was a Mosaic 46xx/ Partial monosomy 15q26.

She delivered a stillbirth fetus at 32 weeks.