A new technique developed by scientists from the Chinese University of Hong Kong marks a before and after in prenatal diagnosis, as it allows reconstructing the complete genome of the fetus from a blood sample from the mother.
Just by analyzing the maternal blood, any disease caused by genetic alterations can be detected, many more than those currently detected. In addition, and not least, to do so you will not need to use invasive means, such as amniocentesis, which carry risks for the mother and the baby.
From the variations of the DNA code in the genome of a fetus it will be possible to find out, several months before delivery, if the baby can inherit congenital diseases such as cystic fibrosis or other ailments.
It had been found in previous studies that the floating DNA of the fetus present in the mother's blood can be used to detect specific inherited diseases, such as Down syndrome. But this new finding broadens the range of possibilities to detect more diseases.
"Before the present work, it was not clear if the complete fetal genome is represented in the maternal plasma, nor if the relative proportions of the fetal and maternal DNA are constant."
That can be deciphered the genome of the fetus from a blood sample from the mother It is a great advance in the field of prenatal medicine, however they warn that the technique is still in the experimental phase. It needs to be implemented on a large scale to really verify its effectiveness and enough time until it becomes a reality within the reach of pregnant women.
"Although still in the proof-of-concept phase, this study shows that sequencing maternal plasma DNA facilitates a non-invasive way of scanning the entire genome for genetic problems."
Everything seems to indicate that invasive tests in pregnancy, such as amniocentesis and chorionic villus analysis, are numbered days. And that in the future it will be more accessible for all pregnant women, not only those of risk groups, to detect possible congenital diseases in the fetus.
