Until the baby is born, healthy and perfect, parents spend nine months in agony, worrying about all that can possibly go wrong. Expecting mothers go through a range of tests, their doctor takes more blood than vampires, mom’s stomach is probed, poked and ultrasounded. And that is if they are lucky and such intensive care is available. Everything is much more complicated if there is a family history of developmental and intellectual abnormalities congenital defects, autism and similar problems. The tests used are invasive and put both mother and baby at risk. Until now. The scientists from Verinata Health found that all potential chromosomal abnormalities can be detected through a simple blood test.
Checking the health of a fetus
At the moment, besides regular blood tests, the most common tests to detect chromosomal abnormalities in babies were amniocentesis and chorionic villus sampling.
They are recommended if regular blood tests show some abnormalities that require further testing. They are also recommended if there is a family history of chromosomal abnormalities and a history of developmental problems in children.
Amniocentesis involves getting a sample of amniotic fluid through a needle inserted through mother’s abdomen.
Chorionic villus sampling requires a sample of the placental tissue through a vaginal passage and cervix.
Both procedures pose a small risk of miscarriage and infection.
The new, non-invasive procedure
The results of a new study published in The American Journal of Human Genetics show that the method that analyzes fetal DNA from his mother’s blood provides the same information as the more invasive procedures, but with much less risk and much less cost.
The new test is called massively parallel sequencing (MPS) of fetal DNA in the mother’s blood. The new study is the first to find that the new test offers as accurate information as chromosome microarrays or metaphase karyotypes. The mother’s blood carries all the chromosomal information of the fetus as chromosomal material obtained from the amniotic fluid or placenta, allowing the testing that is much less invasive.
The new test could provide future mothers with a cost-effective way of checking the developmental health of their unborn baby without risking a miscarriage. If the test becomes a part of routine testing of pregnant women, it would greatly reduce the stress of waiting for the actual birth to find out that a baby is perfectly fine.