Sonographical integrated test for detection of chromosomal aberrations

Different sonographical and biochemical methods for the detection of an elevated risk of chromosomal abnormality are used. The aim of our study was to establish a diagnostic scheme with the highest sensitivity by means of an algorithm incorporating all parameters.

In a group of 1490 pregnant women, ultrasound examination including nuchal translucency and nasal bone measurement was performed in the first trimester. Then, in the early second trimester, a second ultrasound examination combined with measuring nuchal thickness and nasal bone was carried out.

The combination of the NT and NB measurement showed the highest sensitivity (94.7%), specificity (99.21%), PPV (85.7%) and NPV (99.73%).

The proposed integrated test is characterised by a high predictive value for the detection of chromosomal abnormalities, low cost of performance and absolute safety for the foetus and could be offered to all pregnant women. The combination of two ultrasound examinations and biochemistry greatly increased the value of the test.