Vol 91, No 5 (2020)
Review paper
Published online: 2020-05-29
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification
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Abstract
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: prenatal diagnosisGC-MSprenatal ultrasoundSmith-Lemli-Opitzcholesterol biosynthesis
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