A simple maternal blood test could one day be able to say pregnant women to whether the children they have diseases. The test would be screen for disorders than current prenatal tests, the researchers would be much safer.
Scientists say they have found a way to isolate DNA inherited a growing fetus or part liquid of maternal blood plasma and build a genome map of the fetus.
Researchers report can decode 94% of the genome of a fetus from maternal blood sample searching problems currently not detected with two available prenatal screening tests. These tests – the amniocentesis and chorionic - are considered invasive and carry certain risks for the mother and fetus.
Amniocentesis, a doctor uses a long needle to extract a sample of fluid uterus approximately 20 weeks gestation to test chromosomal abnormalities, infections and metabolic abnormalities. But there is a risk of injury to the fetus and miscarriage, given that with chorionic.
Dennis Lo, Chinese University of Hong Kong, says women who undergo this procedure, in which a sample of placental tissue is taken to examine the chromosomal mutations, run a chance of one per cent of miscarriage - even if the baby is normal.
"For pregnant women, when they undergo these tests, will generally much psychological stress," lo said. "" "" So in essence, our technology will bring [i.e. do] prenatal testing safer for babies and less stressful for mothers. »
There are 46 chromosomes in the nucleus of a human cell, with each parent contributing 13 chromosomes. Chromosomes are segments of DNA instructions length.
The amniocentesis and chorionic looking for chromosomal abnormalities. This is a gross detection compared to what could be possible with letter Fetal DNA sequence analysis tool.
In what researchers call a "proof of concept experience", lo and a team of scientists assembled a genome of the fetus from fragments of DNA from the blood of a pregnant woman who, with her husband, gene of a deadly form of anemia, a shortage of red blood cells rich in oxygen.
Lo, the researchers were able to detect genetic abnormalities in the fetus.
"This is a breakthrough in this document." In the first half, we show that fetal whole genome is here, "said lo." "In the second half, we actually the genome of fetal samples and analysis of [a] the baby may have the disease."
Lo says prenatal test that monitors billions of letters comprising the genome of the fetus are prohibitive - around $ 200,000 dollars. But he says that the goal is to develop this target particular genetic anomalies in some populations of prenatal screening.
"For example, if you look at the South-East Asia, and then there is a whole bunch of genetic anaemia which are common here," said lo. "" "" In the white population, you can screen for the hundreds of mutations causing cystic fibrosis. African population, you can use this to detect sickle cell anemia. For applications of this are numerous. »
That scientific predicts Lo eventually develop a Fetal DNA test that can be used at the beginning of nine weeks in pregnancy. An article describing the Fetal DNA test is published this week in the journal science translational Medicine.
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