Therefore, after the gene ABCA12 was identified as the causative gene for HI, ABCA12 mutational analysis by testing amniotic fluid and umbilical cord blood became an effective method for prenatal diagnosis of HI.7, 8 However, pregnant women with no family history or previous history of HI pregnancy, often do not choose to undergo HI-specific prenatal screening using the methods mentioned above. The gene discussed is ABCA12; the disease is Harlequin ichthyosis.