Screening for aneuploidy in the first trimester by assessment of blood flow in the ductus venosus

BJOG. 2002 Sep;109(9):1015-9. doi: 10.1111/j.1471-0528.2002.01482.x.

Abstract

Objective: To assess the role of ductus venosus Doppler assessment in screening for fetal aneuploidy in pregnancies at 11-14 weeks of gestation.

Design: Prospective observational study.

Setting: A tertiary referral fetal medicine unit.

Population: Two hundred fifty-six consecutive pregnancies between 11 and 14 weeks of gestation referred to our unit.

Methods: Nuchal translucency was measured and colour Doppler imaging was used to assess normal (forward) or abnormal (absence/reversed) ductus venosus flow during atrial contraction.

Main outcome measures: Fetal karyotype, structural abnormalities and pregnancy outcomes.

Results: The nuchal translucency measurement was > or = 95th centile in 90 (35.2%) pregnancies, and 123 (48.0%) had a nuchal translucency-related risk of > or = 1:300. There were 46 chromosomally abnormal pregnancies and six euploid pregnancies with adverse outcome. The prevalence of abnormal ductus venosus Doppler waveforms in normal pregnancies was 4.49% (95% CI 1.76-8.76%). The sensitivities of abnormal nuchal translucency measurement alone, ductus venosus velocimetry alone or nuchal translucency and ductus venosus combined for Down's Syndrome were 80.4%, 58.7% and 93.5%, respectively. The likelihood ratios for aneuploidy with abnormal nuchal translucency measurement alone, ductus venosus velocimetry alone or nuchal translucency and ductus venosus combined were 3.33, 9.83 and 3.48, respectively.

Conclusion: There is clear association between abnormal flow in the ductus venosus and fetal aneuploidy. The use of ductus venosus velocimetry in combination with nuchal translucency is better than either test alone, since it increases the sensitivity in the detection of Down's Syndrome to 94% and decreases the likelihood ratio of a negative test to 0.08.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aneuploidy*
  • Blood Flow Velocity
  • Female
  • Fetus / blood supply
  • Humans
  • Karyotyping
  • Liver / blood supply*
  • Liver / embryology
  • Maternal Age
  • Middle Aged
  • Neck / embryology
  • Pregnancy
  • Pregnancy Trimester, First
  • Prospective Studies
  • Ultrasonography, Prenatal / methods
  • Umbilical Veins / embryology*
  • Vena Cava, Inferior / embryology*