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GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification
, 2, 2, 3, 14
Affiliations- Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland, Poland
- Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland
- Department of Gynecologic Oncology, Jagiellonian University Medical College, Cracow, Poland
- Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
open access
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.
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 diagnosis; GC-MS; prenatal ultrasound; Smith-Lemli-Opitz; cholesterol biosynthesis
About this articleTitle
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification
Journal
Issue
Article type
Review paper
Pages
287-293
Published online
2020-05-29
Page views
1749
Article views/downloads
1215
DOI
Pubmed
Bibliographic record
Ginekol Pol 2020;91(5):287-293.
Keywords
prenatal diagnosis
GC-MS
prenatal ultrasound
Smith-Lemli-Opitz
cholesterol biosynthesis
Authors
Aleksandra Jezela-Stanek
Anna Siejka
Ewa M. Kowalska
Violetta Hosiawa
Malgorzata Krajewska-Walasek
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