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 u=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