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Genetic code of unborn baby mapped

Scientists have mapped the entire genetic code of an unborn baby using a blood sample from the mother and a saliva sample from the father, potentially allowing doctors to scan for genetic disorders before birth without physically disturbing the foetus or mother.

17 Jun 2012

Scientists have mapped the entire genetic code of an unborn baby using a blood sample from the mother and a saliva sample from the father, potentially allowing doctors to scan for genetic disorders before birth without physically disturbing the foetus or mother.

Scientists from the University of Washington were able to sequence the baby’s genome as early as eight weeks after fertilisation, though they found the non-invasive technique worked best 18 weeks into the pregnancy.

Foetal DNA appears in the mother’s plasma a few weeks after conception and makes up about 10 per cent of her plasma during pregnancy. The scientists isolated the cells from the foetus found in the maternal plasma and extracted its DNA. They used this material as well as DNA extracted from the father’s saliva to sequence the entire genetic make-up of the unborn child.

The test is considered a safer alternative to current pre-natal genetic screening that involves tapping fluid from the foetal sac, or taking placental samples. These invasive methods can only identify a small number of birth defects, including Down’s syndrome, spina bifida, cystic fibrosis and muscular dystrophy, and pose risks for both mother and child.

In the study, the scientists examined the DNA of babies following birth to test the accuracy of the new technique. The assessment showed that the new test accurately identified 39 of 44 de novo genetic mutations before the baby was born.

De novo mutations are not inherited and are responsible for a large number of genetic disorders. They are also thought to play a role in autism and schizophrenia.

The research was published in Science Translational Medicine.

KW


Published: 17 Jun 2012