Early ultrasound prediction of pregnancies affected by homozygous alpha-thalassaemia-1

Prenat Diagn. 1997 Apr;17(4):327-32.

Abstract

Homozygous alpha-thalassaemia-1 is conventionally diagnosed by invasive testing on all at-risk pregnancies. We evaluated the diagnostic efficacy of non-invasive abdominal ultrasonographic cardiothoracic ratio measurement in 62 pregnancies at 13-14 weeks and 75 pregnancies at 17-18 weeks. This performed better than placental thickness measurement. Using a cardiothoracic ratio cut-off level of > or = 0.5, 75 per cent of affected pregnancies were detected at 13-14 weeks and all cases were detected at 17-18 weeks. False-positive rates were 7 and 8 per cent, respectively. There was no false-positive diagnosis if the cardiothoracic ratio was > or = 0.53. With this approach, invasive procedures can be selectively performed and fewer pregnancies will be lost unnecessarily. The reduction in medical expenses is likely to be substantial.

MeSH terms

  • False Positive Reactions
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Heart / diagnostic imaging
  • Gestational Age
  • Homozygote*
  • Humans
  • Placenta / diagnostic imaging
  • Predictive Value of Tests
  • Pregnancy
  • ROC Curve
  • Sensitivity and Specificity
  • Thorax / diagnostic imaging
  • Thorax / embryology
  • Ultrasonography, Prenatal*
  • alpha-Thalassemia / diagnostic imaging*
  • alpha-Thalassemia / genetics