Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review

J Huazhong Univ Sci Technolog Med Sci. 2017 Feb;37(1):148-152. doi: 10.1007/s11596-017-1708-x. Epub 2017 Feb 22.

Abstract

Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with skeletal abnormalities among 12 000 cases, and 3 fetuses with thanatophoric dysplasia. Our report described and reviewed three common types of thanatophoric dysplasia, aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system.

Keywords: congenital skeletal deformity; fetal prenatal ultrasound; fetal skeletal system.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Humans
  • Pregnancy
  • Prenatal Diagnosis
  • Sensitivity and Specificity
  • Thanatophoric Dysplasia / diagnostic imaging*
  • Ultrasonography, Prenatal / methods*