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Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model

  • Pippa Staps ORCID logo EMAIL logo , Marije Hogeveen , Joris Fuijkschot , Joris van Drongelen and Michèl A.A.P. Willemsen
Published/Copyright: September 15, 2017
Journal of Perinatal Medicine
From the journal Journal of Perinatal Medicine Volume 46 Issue 5

Abstract

Aim:

Preterm birth is the world’s leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm.

Methods:

Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease.

Results:

Exact gestational age was known in 33 Dutch patients; 24 (73%) of them were born preterm, with a median gestational age of 36 weeks. The literature search confirmed our findings: 13 (59%) of 22 cases was born preterm.

Conclusions:

Preterm birth is a hallmark of Sjögren-Larsson syndrome, presumably caused by the abnormal lipid metabolism of the fetus. At least five additional rare genetic disorders (namely Ehlers-Danlos syndrome, ichthyosis prematurity syndrome, congenital analbuminemia, osteogenesis imperfecta type II and restrictive dermopathy) were found in literature that lead to preterm birth of the affected fetus. These disorders are in fact “experiments of nature” and as such they shed new lights on the mechanisms causing preterm birth.

Keywords: Genetics; genetic diseases; inborn; physiopathology; preterm birth; Sjögren-Larsson syndrome
Corresponding author: Pippa Staps, MD, Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, PO Box 9101, 6500 HB Nijmegen, The Netherlands, Tel.: +31 24 3614430

  1. Author’s statement

  2. Conflict of interest: Authors state no conflict of interest.

  3. Material and methods: Informed consent: Informed consent has been obtained from all individuals included in this study.

  4. Ethical approval: The research related to human subject use has complied with all the relevant national regulations, and institutional policies, and is in accordance with the tenets of the Helsinki Declaration, and has been approved by the authors’ institutional review board or equivalent committee.

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Received: 2017-6-7
Accepted: 2017-7-25
Published Online: 2017-9-15
Published in Print: 2018-7-26

©2018 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. A transformative icon for modern perinatology
  4. Highlight: Preterm Labor
  5. Editorial
  6. What’s new in preterm birth prediction and prevention?
  7. Review articles
  8. Pulmo uterinus: a history of ideas on fetal respiration
  9. Mid-trimester preterm premature rupture of membranes (PPROM): etiology, diagnosis, classification, international recommendations of treatment options and outcome
  10. Highlight articles
  11. A soft cervix, categorized by shear-wave elastography, in women with short or with normal cervical length at 18–24 weeks is associated with a higher prevalence of spontaneous preterm delivery
  12. Association between genital mycoplasmas, acute chorioamnionitis and fetal pneumonia in spontaneous abortions
  13. Methylation differences reveal heterogeneity in preterm pathophysiology: results from bipartite network analyses
  14. Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model
  15. Safety and efficacy of the cervical pessary combined with vaginal progesterone for the prevention of spontaneous preterm birth
  16. Risk of preterm birth by maternal age at first and second pregnancy and race/ethnicity
  17. Infant mortality and causes of death by birth weight for gestational age in non-malformed singleton infants: a 2002–2012 population-based study
  18. Perinatal outcomes after previable preterm premature rupture of membranes before 24 weeks of gestation
  19. Letter to the Editor
  20. Fundal pressure: risk factors in uterine rupture. The issue of liability: complication or malpractice?
https://doi.org/10.1515/jpm-2017-0187
Keywords for this article
Genetics; genetic diseases; inborn; physiopathology; preterm birth; Sjögren-Larsson syndrome

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. A transformative icon for modern perinatology
  4. Highlight: Preterm Labor
  5. Editorial
  6. What’s new in preterm birth prediction and prevention?
  7. Review articles
  8. Pulmo uterinus: a history of ideas on fetal respiration
  9. Mid-trimester preterm premature rupture of membranes (PPROM): etiology, diagnosis, classification, international recommendations of treatment options and outcome
  10. Highlight articles
  11. A soft cervix, categorized by shear-wave elastography, in women with short or with normal cervical length at 18–24 weeks is associated with a higher prevalence of spontaneous preterm delivery
  12. Association between genital mycoplasmas, acute chorioamnionitis and fetal pneumonia in spontaneous abortions
  13. Methylation differences reveal heterogeneity in preterm pathophysiology: results from bipartite network analyses
  14. Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model
  15. Safety and efficacy of the cervical pessary combined with vaginal progesterone for the prevention of spontaneous preterm birth
  16. Risk of preterm birth by maternal age at first and second pregnancy and race/ethnicity
  17. Infant mortality and causes of death by birth weight for gestational age in non-malformed singleton infants: a 2002–2012 population-based study
  18. Perinatal outcomes after previable preterm premature rupture of membranes before 24 weeks of gestation
  19. Letter to the Editor
  20. Fundal pressure: risk factors in uterine rupture. The issue of liability: complication or malpractice?
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