While it is still hasty to announce the end of amniocentesis, prenatal diagnosis has undergone a breakthrough in recent years, and already The test to detect chromosomal abnormalities in the fetus has arrived in Spain with a simple blood test of the mother.
We had recently announced that it was already on sale in some European countries and has now arrived in Spain. In the long run, amniocentesis will be replaced by this blood test that can detect with 99 percent reliability the most frequent chromosomal abnormalities, including Down syndrome.
The test is performed by the Labco Quality Diagnostics laboratory, It costs 700 euros, and in principle it will be available only for private hospitals.
Unlike other prenatal diagnostic tests such as amniocentesis and corial villus biopsy that involve an abortion risk of between 0.5 and 1%, this technique does not pose a risk for pregnancy, since it involves removing a blood sample of the mother from which isolates fetal DNA.
The tests will be more reliable and false positives will be avoided, says Vincenzo Cirigliano, a specialist in molecular genetics at Labco:
With these results, a risk index is developed that gives around 5% of false positives, so that only in one of every 50 amniocentesis that are performed are abnormalities detected. With the new technique, when accessing the DNA of the fetus itself, false positives are reduced to 0.1% and all these unnecessary amniocentesis can be avoided ”,“ Only if the result is positive would the invasive tests be prescribed, to confirm that there really is anomalies
The new technique is able to detect the presence of three copies of a chromosome, instead of two, in pair number 21, cause of Down syndrome, as well as anomalies in pairs 13 and 18, which cause other genetic disorders.
Although you still can't talk about a massive test, it's good news that The test to detect chromosomal abnormalities with a simple blood test has arrived in Spain. The price is still quite high, but we hope that it will reduce over time.
Following the news, a question that arises is whether the number of children born with Down syndrome will continue to decline, since the initial objective of prenatal diagnosis has been diverted, linking it almost exclusively to the voluntary termination of pregnancy in cases where Those that detect a chromosomal abnormality.
