Prenatal ultrasonographic prediction of homozygous type 1 alpha-thalassemia at 12 to 13 weeks of gestation

Am J Obstet Gynecol. 1999 Jan;180(1 Pt 1):148-50. doi: 10.1016/s0002-9378(99)70165-1.

Abstract

We determined the feasibility of prenatal prediction of type 1 homozygous alpha-thalassemia at 12 to 13 weeks of gestation by either abdominal or vaginal (or both) ultrasonographic examination to measure the fetal cardiothoracic ratio in 135 at-risk pregnancies. Forty-three fetuses were affected by homozygous type 1 alpha-thalassemia. The mean cardiothoracic ratio was significantly larger than that of the unaffected fetuses (0.54 vs 0.45, P <.0005), with no overlap between the 2 groups. A cardiothoracic ratio cutoff point of >/=0.5 was 100% sensitive and specific for disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Feasibility Studies
  • Female
  • Fetal Heart / diagnostic imaging
  • Forecasting
  • Gestational Age*
  • Homozygote*
  • Humans
  • Pregnancy
  • Thorax / diagnostic imaging
  • Thorax / embryology
  • Ultrasonography, Prenatal*
  • alpha-Thalassemia / diagnostic imaging*
  • alpha-Thalassemia / genetics*