Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: A single center experience

Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, Fathiya Al Murshedi, Abeer Al Sayegh, Adila Al Kindy, Douja Meftah, Khalsa Al Kharusi, Amel Al Foori, Naeema Al Yarubi, Patrick Scott, Khalid Al-Thihli

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH. All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical and molecular studies in addition to the standard investigations for hydrops fetalis. Clinical characteristics and results of the diagnostic work-up were retrospectively reviewed. A total of 3234 pregnancies were referred for prenatal care at SQUH during the study period, and 12 pregnancies were affected by NIHF. An underlying diagnosis was established in nine cases, and the majority of cases (7/9) were caused by inborn errors of metabolism (IEM). These included a novel homozygous variant in the AARS2 gene (5/7) and two cases of galactosialidosis (2/7). IEM was a major cause of NIHF in this cohort. The AARS2 variant accounts for a significant number of cases with NIHF in this cohort of Omani patients.

Original languageEnglish
JournalUnknown Journal
DOIs
Publication statusAccepted/In press - Aug 19 2017

Keywords

  • Arab
  • consanguinity
  • galactosialidosis
  • inborn errors of metabolism
  • mitochondrial asparaginyl-tRNA synthetase (AARS2)
  • non-immune hydrops fetalis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

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