No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI

D.R. Marchington, M.S. Scott Brown, V.K. Lamb, R.J.T. van Golde, J.A.M. Kremer, J.H.A.M. Tuerlings, E.C.M. Mariman, A.H. Balen, J. Poulton

Research output: Contribution to journalArticleAcademicpeer-review


University Department of Paediatics, Level 4, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK.

There is a risk that ICSI may increase the transmission of mtDNA diseases to children born after this technique. Knowledge of the fate and transmission of paternal mitochondrial DNA is important since mutations in mitochondrial DNA have been described in oligozoospermic males. We have used an adaptation of solid phase mini-sequencing to exclude the presence of levels of paternal mtDNA >0.001% in ICSI families. This method is more sensitive than those used in previous studies and is sufficient to detect the likely paternal contribution (approximately 0.1-0.5% from simple calculations of expected dilution during fertilization). Using this method, we were able to detect concentrations as low as 0.001% paternal mtDNA in a maternal mtDNA background. No paternal mtDNA was detected in the embryonic (blood or buccal swabs) tissue of children born after ICSI nor in extra-embryonic tissue (placenta or umbilical cord). In conclusion, we did not detect paternal mtDNA in blood, buccal swabs, placenta or umbilical cord of children born after ICSI. We have found no evidence that ICSI increases the risk of paternal transmission of mtDNA and hence of mtDNA disorders.
Original languageEnglish
Pages (from-to)1046-1049
Number of pages4
JournalMolecular Human Reproduction
Issue number11
Publication statusPublished - 1 Jan 2002

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