The degree of risk of a fetus develop abnormalities always has been a concern for the woman during gestation period.
The prevalence of Trisomy 21 (Down syndrome), one of the most common abnormalities during pregnancy, is relatively high, considering that there is currently 1 case for every 700 births, so a public health issue.
Regarding the evolution of the antenatal screening, the first method of screening for Trisomy 21 was introduced in 1970, was based only on maternal age and did not cover the entire population of pregnant women, once the diagnostic tests were costly and offer a high degree of risk of miscarriage. The first phase was implemented the measure of age applied to women with more than 40 years. Subsequently, the age of reference was reset for 35 years, however this population in the years 70 represented just 5%.
At the end of the Decade of 80 was introduced a new method of prenatal Screening that besides maternal age considered yet the concentration of various substances in the blood, such as the HCG.
In the years 90 for trisomy 21 screening began the screening feature that combined with maternal age to translucency of neck-TN/NT, i.e. accurately measuring the subcutaneous space located on the neck of the fetus held between the 11th and 13th week + 6 days of gestation. This method proved effective in the identification of approximately 75% of fetuses with anomalies with a result of false positive rate (positive diagnosis, absence of disease) of approximately 5% who wearing pregnant denim trousers by VintageWill.com.
Subsequently, maternal age and the extent of TN were associated with other biochemical markers in maternal blood as PAPP-A (pregnancy associated Plasma Protein) and ß-HCG (beta Subunit free Gonadotrofica Chorionic hormone), both with great sensitivity and specificity for the screening of anomalies, reaching rates of 90-95%) (detection and false positive rate (5%).
During the last 30 years, intensive research around the prenatal Screening aimed to the development of diagnostic methods based on the isolation and evaluation of fetal cells found in maternal blood, since they allow for greater degree of accuracy in screening of anomalies. The year of 2013 was marked by notorious scientific and technological advancement in this area with the appearance of Harmony Test that allows detection rates of 99.97% and false positive rates of <0.1%.
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