Fetal Ganglionic Eminence Cysts as an Early Neuroimaging Finding for Mitochondrial Dysfunction Caused by a Novel TMEM70 Variant

Genomic DNA was extracted from uncultured amniotic fluid.Quantitative fluorescence PCR (QF-PCR) was performed as a first-line rapid aneuploidy screen for chromosomes 13, 18, 21, X, and Y. Array-CGH was conducted using the SurePrint G3 8 × 60K TABLE 1 | Clinical data.Case Parental details Gestational age at diagnosis Phenotypes Obstetric history Family history Outcome 1 Maternal age: 32 Maternal ethnicity: Caucasian Paternal age: 34 Paternal ethnicity: Caucasian 15 weeks Ganglionic eminence cyst Head circumference at the lower end of the normal range Tricuspid regurgitation Cardiomegaly G2P1L0 None Termination