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 … Yau‐Huei Wei
    Studysummary This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
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