First-trimester nuchal translucency: a risk analysis on fetal chromosome abnormality
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Updated: Oct 1, 2026

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Published on: August 25, 2019
J M van Vugt1, R M van Zalen-Sprock, P J Kostense
1Department of Obstetrics and Gynecology, University Hospital Vrije Universiteit, Amsterdam, The Netherlands.
Purpose:
To investigate the importance of nuchal translucencies in the first trimester of pregnancy as an ultrasonographic marker for fetal chromosome abnormalities.
Materials And Methods:
One hundred two first-trimester fetuses with a nuchal translucency of 3 mm or more were karyotyped. Multiple logistic regression analysis was performed to estimate the risk of fetal chromosomal abnormalities related to nuchal translucencies.
Results:
Fifty-five (54%) of the fetuses had a normal karyotype. Forty-seven (46%) had an abnormal karyotype. The risk of chromosome abnormality was strongly increased in fetuses with a septated nuchal translucency compared with fetuses with a nonseptated nuchal translucency.
Conclusion:
First-trimester nuchal translucency is an important ultrasonographic marker for chromosomal abnormalities in the fetus. The presence of a normal karyotype in a fetus is a strong indication that detailed ultrasonographic examination for associated anomalies should be undertaken.
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