Diagnosis of abnormalities in developing babies that are picked during ultrasound scans can be improved by 10 percent by genetic testing, reveals research published in The Lancet. Genomic sequencing plays a vital role in the identification of these abnormalities during pregnancy itself.
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.
‘Without genetic testing, abnormalities in the developing babies will go undiagnosed or unnoticed until after pregnancy.’
Approximately 3 per cent 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