Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy

• Published in: BMJ Vol. 304; no. 6831; pp. 867 - 869
• Main Authors: Nicolaides, K. H., Azar, G., Byrne, D., Mansur, C., Marks, K.
• Format: Journal Article
• Language: English
• Published: London British Medical Journal Publishing Group 04.04.1992; British Medical Association; BMJ Publishing Group Ltd; BMJ Publishing Group LTD
• Subjects: Abnormalities; Adult; Biological and medical sciences; Chorionic villi sampling; Chromosome Aberrations - diagnostic imaging; Chromosome abnormalities; Chromosome Disorders; Cystic lymphangioma; Diagnosis; Edema; Female; Fetal Diseases - diagnostic imaging; Fetus; First trimester of pregnancy; Genetic screening; Humans; Karyotyping; Lesions; Maternal Age; Medical genetics; Medical sciences; Middle Aged; Neck - diagnostic imaging; Pregnancy; Pregnancy Trimester, First; Prospective Studies; Trisomy; Ultrasonography; Ultrasonography, Prenatal; Ultrasound imaging; Chromosomal aberration; Sonography; Pregnancy; Human; Translucence; Malformation; Fetus
• ISSN: 0959-8138; 0959-8146; 1468-5833; 1756-1833
• DOI: 10.1136/bmj.304.6831.867

OBJECTIVE--To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype. DESIGN--Prospective screening study. SETTING--The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London. SUBJECTS--827 fetuses undergoing first trimester karyotyping by amniocentesis or chorionic villus sampling. MAIN OUTCOME MEASURE--Incidence of chromosomal defects. RESULTS--The incidence of chromosomal defects was 3% (28 of 827 cases). In the 51 (6%) fetuses with nuchal translucency 3-8 mm thick the incidence of chromosomal defects was 35% (18 cases). In contrast, only 10 of the remaining 776 (1%) fetuses were chromosomally abnormal. CONCLUSION--Fetal nuchal translucency > or = 3 mm is a useful first trimester marker for fetal chromosomal abnormalities.