Prenatal Diagnostics

The bi-genomic (mtDNA as well as nDNA) nature of the oxidative phosphorylation system makes genetic counseling and prenatal diagnosis a difficult enterprise. Enzyme complex OXPHOS-system deficiencies may be caused by mtDNA or nDNA mutations. Consequently the inheritance of this group of mitochondrial energy production disturbances is either maternal or Mendelian.

We can offer prenatal diagnosis if:

A. The causative nuclear mutation in a family is known, or

B. The enzyme complex deficiency has been established in two different tissues, among obligatory cultured skin fibroblasts.

The most experience with prenatal diagnosis we have for isolated complex I and IV deficiencies. This has among others to do with the relatively high frequency of both enzyme complex deficiencies.

For further information regarding precautions and procedures please feel free to contact us.