Antenatal manifestations of mitochondrial respiratory chain deficiency

Objective To review the antenatal manifestations of disorders of oxidative phosphorylation. Study design A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and birth weight, length, and head circumference. Particular attention was given to fetal movements, oligo/hydramnios, fetal cardiac rhythm, fetal heart ultrasound, and ultrasonography/echo Doppler signs of brain, facial, trunk, limb, and organ anomalies. Results Retrospective analyses detected low birth weight (