Screening for fetal anomalies by ultrasound at 14 and 21 weeks

• Published in: Ultrasound in obstetrics & gynecology 1997-12, Vol.10 (6), p.375-380
• Main Authors: D'Ottauio, G., Meir, Y. J., Rustico, M. A., Pecile, V., Fischer‐Tamaro, L., Conoscenti, G., Natale, R., Mandruzzato, G. P.
• Format: Article
• Language: English
• Subjects: Adult; Chromosome Aberrations - classification; Chromosome Aberrations - diagnostic imaging; Chromosome Disorders; Chromosomes, Human - genetics; Endosonography; Female; Fetal Aneuploidies; Fetal Anomalies; Fetal Diseases - diagnostic imaging; Fetal Diseases - genetics; Fetus - abnormalities; Gestational Age; Humans; Karyotyping; Nuchal Thickening; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Prenatal Diagnosis; Reproducibility of Results; Retrospective Studies; Sensitivity and Specificity; Transvaginal Sonography; Ultrasonography, Prenatal; Ultrasound Screening
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1046/j.1469-0705.1997.10060375.x

A prospective study of screening for fetal abnormalities and chromosomal defects was carried out by ultrasound examination at 13–l5 weeks of gestation and 20–22 weeks; the first scan was performed transvaginally and the second transabdominally. During a 4‐year period (1991–95), 3490 unselected consecutive pregnancies with a total of 3514 fetuses were examined. There were 21 chromosomally abnormal fetuses, including ten with trisomy 21, and, in 19 (90.5%), fetal defects were detected at the first and/or second ultrasound examination. The most effective marker for chromosomal defects was increased nuchal translucency thickness (≥ 4 mm) at the 13–15‐week scan, which was present in seven of the ten fetuses with trisomy 21 and in six of the 11 with other chromosomal abnormalities. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology