open access

Vol 91, No 5 (2020)
Review paper
Published online: 2020-05-29
Get Citation

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

Aleksandra Jezela-Stanek1, Anna Siejka2, Ewa M. Kowalska2, Violetta Hosiawa3, Malgorzata Krajewska-Walasek14
DOI: 10.5603/GP.2020.0049
·
Pubmed: 32495936
·
Ginekol Pol 2020;91(5):287-293.
Affiliations
  1. Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland, Poland
  2. Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland
  3. Department of Gynecologic Oncology, Jagiellonian University Medical College, Cracow, Poland
  4. Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland

open access

Vol 91, No 5 (2020)
REVIEW PAPERS Obstetrics
Published online: 2020-05-29

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.

Get Citation

Keywords

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

About this article
Title

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

Journal

Ginekologia Polska

Issue

Vol 91, No 5 (2020)

Article type

Review paper

Pages

287-293

Published online

2020-05-29

DOI

10.5603/GP.2020.0049

Pubmed

32495936

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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