Wednesday, 17 July 2013

Fetal DNA tests

It is a new examination of prenatal diagnosis and consists of a simple blood to the mother. Need to know if the fetus is affected by chromosomal disorders, including Down syndrome. The examination provides an accuracy greater than 99%, but for now you can only run privately and cost approaches to € 1,000.

The test of fetal DNA in maternal blood is performed at 12-14 weeks and need to know if the fetus is affected by the most frequent chromosomal disorders, including Down syndrome. Its main advantage is that it is a non-invasive, so it risky for mother and baby, but for the moment can not replace chorionic villus sampling and amniocentesis , which allow more extensive research. Also you can only perform at private gynecologists and the cost, which often comes close to 1,000 euro, is the sole responsibility of the patient.

How does the test of fetal DNA

The test is to analyze the amount of fetal DNA present in maternal blood. "We know from a decade that maternal cells are present in the blood of the fetus, or rather of the placenta, which contains the same genetic makeup of the fetus - Faustina said Lalatta, Head of Medical Genetics at the Mangiagalli Clinic of Milan. - About a year and a half, thanks to sophisticated equipment, the company is able to isolate this DNA (so as not to confuse it with the maternal) and replicate in the laboratory, to obtain a sufficient quantity to analyze it."

What allows you to discover the DNA tests

"Just because of the technology needed to isolate and study the fetal DNA in the mother's blood" Lalatta continues, "for the moment it was decided to use it only to analyze the three most common chromosomal disorders, namely Down syndrome ( or trisomy 21), Edwards syndrome (trisomy 18) and Palau (trisomy 13) ", respectively, going to study DNA segments corresponding to chromosome 21, 18 and 13 of the genetic heritage of the child."

When and how to conduct the examination of the fetal DNA

The expectant mother undergoes a simple drawing of a blood sample, which is sent to the laboratory for analysis. The outcome occurs after two weeks. The ideal time is between 12 and 14 weeks of pregnancy. Not before, because the amount of DNA present in the blood may not be enough for the investigation, not after, otherwise you will lose the advantage of the precocity of the survey.

Reliability that offers DNA testing

The examination provides a reliability than 99%. False positives are very rare, less than 1%. "However, because it is a very recent examination, scientific societies recommend that you confirm any positive outcome (pathological) by undergoing a traditional examination, amniocentesis or chorionic villus sampling, before evaluating a possible interruption of pregnancy" says Faustina Lalatta. "False negatives are possible, although rare, as with all laboratory techniques."


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