Exciting news for expectant mothers: Reuters reports that a groundbreaking non-invasive test is now available to detect genetic abnormalities like Down syndrome, without the need for an amniocentesis procedure.
Developed by US company Ravgen, this innovative diagnostic tool uses fetal DNA extracted from blood samples taken from the mother to screen for chromosomal abnormalities. Unlike traditional tests that carry a risk of miscarriage, this new test poses no threat to the mother or the fetus.
In a recent study published in The Lancet medical journal, the test produced promising results. Out of 60 pregnant women, it correctly diagnosed Down’s syndrome – one of the most common genetic abnormalities – in two cases. However, it did produce one false positive and one false negative.
Lead author of the study and head of Ravgen, Ravinder Dhallan, explained the significance of this new test, stating, “Right now in the market there is no test available that can reliably do what we do in this study, which is, without needing any invasive procedure, to determine whether a baby has an abnormality or not.”
Previously, genetic testing for Down’s syndrome was recommended primarily for women aged 35 and older. However, the American College of Obstetricians and Gynaecologists has recently advised that all women be given the option of having genetic testing.
Standard tests for Down’s syndrome, such as chorionic villus sampling (CVS) and amniocentesis, are more invasive. CVS is performed in the first 13 weeks of pregnancy and analyzes placenta cells for genetic abnormalities, while amniocentesis involves withdrawing a small amount of amniotic fluid and is usually done at around 16 weeks.
The new test uses single nucleotide polymorphisms (SNPs) to detect genetic abnormalities in the fetus. Down’s syndrome, for example, occurs when a baby inherits three copies of chromosome 21 instead of the usual two. The risk of having a baby with Down’s syndrome increases with maternal age.
According to Dhallan, this test can be adapted to look for abnormalities in any chromosome or single gene disorders.
With this new non-invasive test, moms-to-be can have peace of mind knowing their baby’s health can be accurately assessed without the potential risks associated with traditional screening methods.
