Research carried out in the UK has found that genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans.
The research, published in The Lancet, was carried out by the University of Birmingham’s Institute of Metabolism and Systems Research, Wellcome Sanger Institute, University of Cambridge, Great Ormond Street Hospital (GOSH) and their collaborators.
The scientists used genome sequencing to improve the diagnoses of abnormalities detected by ultrasound by around 10%. Without genomic information, these abnormalities may not have been diagnosed until after pregnancy, if at all.
The findings suggest that if the results from genome sequencing can be delivered in the timeframe of a pregnancy, then the additional diagnosis can support the care, counselling and the family’s decision-making during pregnancy.
Approximately 3% of pregnancies will have an abnormality in the structure of the developing baby, which is detected by a routine prenatal ultrasound scan. These can include problems with the baby’s heart, brain, skeleton or, in some cases, multiple organs.
Having detected a problem with the baby’s development using prenatal ultrasound, parents will want to know the likely outcome for their child, however there can be many different possible causes of the abnormality.
In the largest study of its kind, researchers at the Wellcome Sanger Institute and their collaborators provided a genetic diagnosis for around 10% of pregnancies with detected abnormalities. Without genetic testing, the genetic changes causing the developmental problem would not have been detected by standard diagnostic testing.
The research supports the mainstream use of more detailed genetic testing alongside other tests in order to provide better information to parents about how their child is likely to be affected.
Professor Mark Kilby, of the University of Birmingham’s Institute of Metabolism and Systems Research and Clinical Lead in Fetal Medicine at Birmingham Women’s and Children’s NHS Foundation Trust, said:
“We hope that our research will aid NHS England’s ambition to roll out by next summer the use of invasive, and then later non-invasive technology, to perform exome sequencing in the generic or targeted screening of babies for congenital abnormalities during pregnancy.”
Dr Matthew Hurles, from the Wellcome Sanger Institute, added:
“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.”