• Arch. Dis. Child. Fetal Neonatal Ed. · Jul 2014

    Review

    Prenatal diagnosis of chromosomal imbalances.

    • Diana G Wellesley and Anneke Lucassen.
    • Arch. Dis. Child. Fetal Neonatal Ed. 2014 Jul 1;99(4):F338-41.

    AbstractPrenatal array comparative genome hybridisation (aCGH) testing has by and large replaced routine karyotyping in many healthcare settings. While this will lead to more diagnoses, uncertain, unexpected or unhelpful findings are also likely to increase. This is the case for aCGH in any setting, but we discuss the particular challenges the prenatal setting generates and suggest areas that need further debate and discussion as well as some pragmatic ways forward.

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