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The high relative frequency of chromosomal abnormalities in the neonatal population and the continuing difficulty

to reduce morbidity, they stimulated the search for new non-invasive procedures for prenatal screening in pregnancy.

For about a decade, a screening test has been available that integrates ultrasound evaluation of nuchal translucency with the assay of two biochemical analytes from maternal blood (PAPP-A and BHCG) to identify pregnancies with increased genetic risk, to be addressed to invasive prenatal diagnosis. (Villocentesis, Amniocentesis) for the analysis of the fetal chromosomal structure.
The clinical robustness of the test (sensitivity of 90% and high negative predictive power) has been confirmed by prospective clinical triases carried out all over the world.

Among the first in Italy The IRG has launched this screening policy in accordance with the guidelines of important national and international scientific societies.

The epidemiological results of the application of the test in the Neapolitan reality were presented by the IRG at the World Congress of Fetal Medicine in Sorrento in 2008.

Biological sample for the screening of fetal chromosomopathies: Maternal serum

Suitable gestational period: 11 weeks + 0 days up to 13 weeks + 6 days

First trimester combined screening of fetal chromosomal abnormalities in a low risk population (Valerio D.)

Click on the PDF attachment icon to view the slides

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