8 years of turmoil ended in just 20 days

The routine ultrasound examination of a couple’s first pregnancy identified that the male fetus was affected with a very severe abnormality of the skeleton.  The abnormalities were so severe they were incompatible with survival.

When two subsequent pregnancies identified male fetuses with identical skeletal abnormalities, a DNA sample from the second affected fetus was also sent to a specialist international laboratory, but again no cause was identified.

After 8 years of waiting, a DNA sample from the third affected pregnancy (a singleton) was sent to Congenica for whole exome sequencing (WES) analysis and the likely cause of the skeletal abnormalities was identified within just 20 days. 

"Congenica’s combination of flexible workflows and data visualization tools have helped provide a diagnosis where other approaches have failed - all within a 20-day diagnostic window. This is a powerful tool that has helped this family bring 8 years of turmoil to a close.” Professor Sahar Mansour, Consultant Clinical Geneticist and Physician, St George’s University Hospitals NHS Foundation Trust