Genetic testing boosts detection of foetal abnormalities

February 4, 2019

The team included scientists from the Wellcome Sanger Institute, University of Cambridge, University of Birmingham, Great Ormond Street Hospital (GOSH) and their partners.

Findings showed that genome sequencing could improve the diagnoses of abnormalities identified by ultrasound by approximately 10%.

The researchers said that without genomic information, these abnormalities may not have been detected until after pregnancy.

They believe that providing the genome sequencing results in the pregnancy timeframe would aid the additional diagnosis that can support care, counselling and the family’s decision-making.