Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family

Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed.
Source: Taiwanese Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Case Report Source Type: research