Healthy Discoveries: Baby diseases can be scanned in mother's blood: study

Healthy discoveries

Researchers said that parents may soon be able to find out if their unborn child is prone to any inherited diseases, after developing a non-invasive technique to draw the entire gene map of the human foetus.

Scientists in Hong Kong and the United States were able to identify all the DNA strands that belong to the child and piece them together by analysing a sample of the mother's blood, which contains DNA from the foetus.

"Before this work, people only could look for one illness at one time but now you can build a screen for a number of illnesses which are prevalent in any specific population," said Lead author Dennis Lo, professor of medicine from the Chinese University in Hong Kong.

Earlier, only part of the baby's DNA was thought to be in the mother's blood but now the research team's breakthrough was discovering that the mother's plasma holds the entire foetal genome.

"Now  we know that (the) entire foetal genome is in there, you can look for any illness that is genetically inherited."

The study, published in the journal Science Translational Medicine, recruited a couple undergoing prenatal  diagnosis for a hereditary blood disorder, beta-thalassemia.

Lo said that in the mother's blood, 90% of the DNA is her own ... and 10% is the baby's and half of the foetal genome is from father and half from mother.

The team found the foetus inherited a beta-thalassemia mutant gene from the father and that mean the baby was a carrier of the illness.

Lo described the process as akin to putting  a jigsaw puzzle with millions of pieces together -- only in this case, 10 times as many pieces from a much bigger jigsaw were mixed in with it too.

Lo said "the whole genome is fragmented into millions of pieces and by this exercise, we collect it back,"

"It's like collecting a jigsaw puzzle with millions of pieces. But to make it more challenging, you mix in 10 times (the number of pieces) from another jigsaw puzzle, that's the mother's own DNA. And you are trying to collect the child's."

Experts who were not involved in the study called for caution.

"It is too early to use the technology broadly as we aren't yet able to explain many of the findings that can be generated precisely," said Christine Patch, chair of the British Society for Human Genetics.

"We don't randomly test pregnancies for a long list of ... conditions that may only clear in adult life on the basis that individuals may not want to know that information when they are older."

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