Prenatal Diagnosis of a Fetus Harboring an Intermediate Load of the A3243G mtDNA Mutation in a Maternal Carrier Diagnosed with MELAS Syndrome

    May 2004 in “ Prenatal Diagnosis ”
    Yin‐Jou Chou, Chia‐Yu Ou, Te‐Yao Hsu, Chia‐Wei Liou, Cheng‐Feng Lee, Dan‐Ju Tso, Yau‐Huei Wei
    TLDR Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
    The study focused on the prenatal diagnosis of MELAS syndrome in a fetus with an intermediate load of the A3243G mtDNA mutation, inherited from a mother diagnosed with the syndrome. Despite the mother's and older brother's condition, the fetus's mutant mtDNA levels in amniotic fluid were consistent with postnatal samples, and the pregnancy was mostly uncomplicated. The infant was born macrosomic with shoulder dystocia, but MELAS symptoms did not appear until age four, unlike the severe symptoms in the first child. This highlighted the phenotypic variability in offspring with similar mtDNA mutation levels, suggesting that prenatal genetic diagnosis may not reliably predict fetal outcomes.
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