N. Albreht
Osnovno zdravstvo Gorenjske, Kranj, Slovenija

P. Fister
Klinični oddelek za neonatologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

N. Prezelj
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Nuchal translucency (NT) is a collection of fluid under the skin at the back of the foetal neck. It is measured by ultrasound between the 10th and 14th week gestation. NT thickness is increased in foetuses with chromosomal abnormalities, cardiac or other organ defects and many genetic syndromes. Increased NT might even be associated with a lower IQ score in children without structural or genetic defects. Combining the NT scan with specific maternal blood tests ensures a more accurate risk assessment, which is however not as accurate as invasive diagnostic procedures. A nuchal translucency measurement above 3.5 mm is an indication for foetal echocardiography, as the prevalence of cardiac defects rises exponentially with increasing nuchal translucency. When, in chromosomally normal foetuses, the enlarged nuchal translucency thickness disappears by the 20th or 22nd week gestation and a detailed ultrasound examination and echocardiography fail to reveal any abnormalities, their outcome and postnatal development is not statistically different compared to the general population. More research is needed for better prediction of adverse outcomes of increased nuchal translucency for a newborn’s health and development.

Key words: foetus, nuchal translucency, newborn, congenital abnormalities, development.

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