Abstract
We report a case of Congenital Central Hypoventilation syndrome (CCHS), diagnosed in utero at 18 weeks' gestation analysis of repeats in the PHOX2b gene in fetal amniocytes and confirmed at delivery. Prenatal diagnosis allowed for serial detailed assessment of fetal breathing characteristics. Fetal breathing in this affected fetus was indistinguishable from breathing characteristics in the non-affected fetus.
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