GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification

Ginekol Pol. 2020;91(5):287-293. doi: 10.5603/GP.2020.0049.


Rare multiple congenital malformations/developmental disorders are challenging in clinical diagnosis. The introduction of next-generation sequencing (NGS) has revolutionized this diagnostic by offering multigene panels or whole-exome sequencing. However, if there is no possibility to perform NGS or if we are facing prenatal ultrasound results, clinical diagnostics is even more difficult. For a selected group of congenital metabolic disorders, resulting from defects in cholesterol biosynthesis (called cholesterolopathies), application of gas chromatography-mass spectrometry (GS-MS) may provide or orientate diagnostics. The most common of these is Smith-Lemli-Opitz syndrome (SLOS), but in this publication, we also want to introduce other cholesterolopathies and draw attention to the possibility of non-invasive prenatal diagnosis of SLOS.

Keywords: GC-MS; Smith-Lemli-Opitz; cholesterol biosynthesis; prenatal diagnosis; prenatal ultrasound.

Publication types

  • Review

MeSH terms

  • Cholesterol / biosynthesis*
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Noninvasive Prenatal Testing
  • Pregnancy
  • Pregnancy Complications / diagnosis*
  • Prenatal Diagnosis*
  • Smith-Lemli-Opitz Syndrome / diagnosis*
  • Urinalysis


  • Cholesterol