Identifying inherited disease in fetuses has been thus far a procedure that involved significant risk of miscarriage, due to the fact that the medical procedures required were invasive and implied driving a needle in the amniotic sack that surrounds the babies when they are still in the womb. Now, a team of researchers from China and Taiwan came up with a very "friendly" way of collecting important data about the fetus' health, by simply analyzing a sample of the mother's blood.

 

Dennis Lo, from the Chinese University of Hong Kong, leads the same team that, a few years back, determined that fetal DNA courses through the mother's blood stream after the pregnancy sets in. At the time, the team decided to use this data to create viable forms of detecting diseases such as sickle cell anemia, cystic fibrosis, and thalassaemia. Their first approach to finding a new method of detecting the condition of a fetus was to try to separate the two types of DNA and take it from there.

 

However, this attempt failed, and they had to turn to alternative approaches, including genetics. "Such diseases can be diagnosed by a simple blood test (taken from the mother), and by counting the relative ratio of the mutant genes against the normal genes," said Lo. This process involves measuring proportions of potentially dangerous genes and normally-developed ones. If the ratio is too high, then it would imply that the infant is suffering from an inherited medical condition.

 

Using hi-end digital blood testing techniques, the team was able to, as Lo put it, "bring non-invasive prenatal diagnosis of monogenic diseases closer to reality." The newly-devised process allows scientists to stop putting the life of the fetus in danger, as they no longer have to perform amniocentesis, which can cause spontaneous abortions.

 

The team published its finds in the Proceedings of the National Academy of Sciences, and announced that further studies would continue, until a viable, easy-to-produce and inexpensive blood test was devised. These tests are to be found in every hospital in the world, allowing doctors to detect diseases even before they appear, and to start treatment as soon as possible. For many diseases, including HIV, this course of action could save the life of the infant.