Screening for fetal anomalies by ultrasound at 14 and 21 weeks

G. D'Ottavio, Y. J. Meir, M. A. Rustico, V. Pecile, L. Fischer-Tamaro, G. Conoscenti, R. Natale, G. P. Mandruzzato

Research output: Contribution to journalArticlepeer-review


A prospective study of screening for fetal abnormalities and chromosomal defects was carried out by ultrasound examination at 13-15 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 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.

Original languageEnglish
Pages (from-to)375-380
Number of pages6
JournalUltrasound in Obstetrics and Gynecology
Issue number6
Publication statusPublished - 1997


  • Fetal aneuploidies
  • Fetal anomalies
  • Nuchal thickening
  • Prenatal diagnosis
  • Transvaginal sonography
  • Ultrasound screening

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Acoustics and Ultrasonics


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