Research, published in The Lancet, carried out by the University of Cambridge, Wellcome Sanger Institute, University of Birmingham, Great Ormond Street Hospital (GOSH) and their collaborators found that genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans.
The scientists used exome sequencing to improve the diagnoses of abnormalities detected by ultrasound by around 10 per cent. The research fell was part of the Prenatal Assessment of Genomes and Exomes (PAGE) study, which strives to gain a better understanding of genetic alterations, or variants, that cause developmental problems during pregnancy.
Dr Matthew Hurles, from the Wellcome Sanger Institute, said: “Genetic testing gets to the root cause of some of the problems seen in ultrasound scans and can give families much clearer answers about a baby’s condition. “For example, a structural heart defect seen on an ultrasound scan could be caused by a disease that just affects the heart and may be relatively easily corrected, or it could be linked to something more complicated, such as neurological development, which could impact on the child’s schooling in the future.”
Professor Eamonn Maher, from the University of Cambridge, said: “More genetic diagnoses were made for developing babies with problems surrounding the heart, skeleton or multiple organs, indicating that in the future genetic testing to make diagnoses may be tailored to specific types of developmental problems.”
The results from this study were fed back to the families via their genetic counsellors to help them decide on treatment or management for the condition. Most of the diagnoses made were of conditions that have a low risk of recurrence in future pregnancies.
Jane Fisher, Director of the Antenatal Results and Choices charity, said: “When expectant parents are told from a scan that their baby is not developing as expected, it most often comes as a huge shock and they are anxious to know as much as possible about what is ahead. A genetic diagnosis can help provide them with important information about the outlook for their baby and whether they might face a similar situation in future pregnancies.”