Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome

Yin Jou Chou, Chia Yu Ou, Te Yao Hsu, Chia Wei Liou*, Cheng Feng Lee, Dan Ju Tso, Yau Huei Wei

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

16 Scopus citations

Abstract

We prenatally diagnosed MELAS syndrome in a fetus whose mother and older brother had the MELAS-specific A3243G mutation. The mutant mtDNA level of the amniotic fluid cells was not significantly different from that of the postnatal peripheral blood and hair follicle samples. The obstetrical course was uncomplicated except for transient exacerbation of the mother's diabetes, which required insulin control. At term, the infant was macrosomic, and the delivery was complicated by shoulder dystocia. MELAS syndrome in itself does not influence either the prenatal course of the mother or the fetal outcome. In contrast to the fulminating clinical course of this mother's first child, MELAS symptoms did not develop in her second child until age four, despite similar high tissue levels of mutant mtDNA. The phenotypic diversity in two offspring with similar higher levels of mutant mtDNA suggests that prenatal genetic diagnosis of cultured amniotic cells may yield results that are poor prognosticators of fetal outcome.

Original languageEnglish
Pages (from-to)367-370
Number of pages4
JournalPrenatal Diagnosis
Volume24
Issue number5
DOIs
StatePublished - 05 2004
Externally publishedYes

Keywords

  • Amniotic cells
  • MELAS syndrome
  • Prenatal diagnosis
  • mtDNA mutation

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