Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians

Clin Perinatol. 2018 Mar;45(1):119-128. doi: 10.1016/j.clp.2017.11.003.

Abstract

The perinatal clinician needs to understand certain essential concepts when encountering an infant with a suspected or confirmed diagnosis of Turner syndrome. This article describes the key clinical features that should prompt testing, the appropriate diagnostic workup, the necessary screening required after diagnosis, and how to best approach family counseling.

Keywords: Counseling; Karyotype; Monosomy X; Perinatology; Turner syndrome.

Publication types

  • Review

MeSH terms

  • Amniocentesis
  • Bone Diseases, Metabolic / etiology
  • Bone Diseases, Metabolic / therapy
  • Chorionic Villi Sampling
  • Comorbidity
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / epidemiology
  • Female
  • Genetic Counseling
  • Growth Disorders / etiology
  • Growth Disorders / therapy
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Kidney / abnormalities
  • Mass Screening
  • Mosaicism
  • Perinatal Care
  • Pregnancy
  • Prenatal Diagnosis
  • Primary Ovarian Insufficiency / etiology
  • Primary Ovarian Insufficiency / therapy
  • Thyroiditis, Autoimmune / diagnosis
  • Thyroiditis, Autoimmune / epidemiology
  • Turner Syndrome / complications
  • Turner Syndrome / diagnosis*
  • Turner Syndrome / epidemiology
  • Turner Syndrome / therapy
  • Ultrasonography, Prenatal