First-trimester nuchal translucency: a risk analysis on fetal chromosome abnormality.
OBJECTIVE
To investigate the importance of nuchal translucencies in the first trimester of pregnancy as an ultrasonographic marker for fetal chromosome abnormalities.


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.


CONCLUSIONS
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.
van Vugt
J M
JM
Department of Obstetrics and Gynecology, University Hospital Vrije Universiteit, Amsterdam, The Netherlands.
van Zalen-Sprock
R M
RM
Kostense
P J
PJ
D000328:Adult; D016022:Case-Control Studies; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging* / Q000453:epidemiology; D025063:Chromosome Disorders; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D016015:Logistic Models; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D008423:Maternal Age; D016017:Odds Ratio; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D012307:Risk Factors; D016216:Ultrasonography, Prenatal