First trimester diagnosis of sirenomelia

Prenat Diagn. 2006 Aug;26(8):684-8. doi: 10.1002/pd.1479.

Abstract

We present a case of sirenomelia diagnosed on a first trimester ultrasound at 10 weeks' gestation and confirmed on 3D-ultrasound and MRI. The pregnancy was terminated at 15 gestational weeks and the post-mortem examination, including RX and microscopy, is presented. The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy. Our case illustrates that the diagnosis of sirenomelia can be reliably made in the first trimester.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Ectromelia / diagnosis*
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Magnetic Resonance Imaging*
  • Pregnancy
  • Pregnancy Trimester, First*
  • Ultrasonography, Prenatal*