title: Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
abstract: In France gamete donation and notably sperm donation are anonymous. It has been claimed that anonymous artificial insemination by donor (AID) could highly contribute to an increase in the level of consanguinity and the incidence of autosomal recessive diseases, due to the unions between offspring of anonymous donors, unaware of their biological kinship, with the special case of unions between half-siblings. The actual incidence of consanguinity due to AID was compared with that resulting from the two other main sources of consanguinity and recessive diseases, i.e. voluntary unions between related individuals or inadvertent unions between the offspring of a common unknown male ancestor (false paternity). From these data, we estimated that expected unions in France between half sibs per year are 0.12 between offspring of sperm donors (1.2 every 10 years) and 0.5 between offspring of common male ancestors through false paternity (5 every 10 years). More generally, the inadvertent unions between false paternity offspring are roughly four times more frequent than those resulting from anonymous AID. We estimated that in the future, when AID has been in practice for several generations, out the 820 000 annual births in France, respectively, 6 and 25 births will be consanguineous through an unknown common ancestor related to anonymous AID and to a false paternity, both of which are negligible when compared with the 1256 children born from first-degree cousins. About 672 children per year are born with a recessive genetic disease due to the panmictic risk and additional affected cases due to consanguinity would be 34.54 for first-cousin offspring, 0.33 for offspring of individuals related due to false paternity and 0.079 for offspring of individuals related due to anonymous AID. Anonymous AID would therefore be responsible for 0.46% of consanguineous births and for 0.01% of recessive diseases. Therefore, the effect of anonymous AID on half-sibling unions, consanguinity and recessive disease incidence can be regarded as marginal.
authors.affiliation: EA 2493 'Pathologie Cellulaire and Génétique, de la Conception à la Naissance', Université de Versailles, Saint Quentin en Yvelines, France.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Serre
authors.forename: Anne-Louise
authors.initials: AL
authors.lastname: Leutenegger
authors.forename: Alain
authors.initials: A
authors.lastname: Bernheim
authors.forename: Marc
authors.initials: M
authors.lastname: Fellous
authors.forename: Alexandre
authors.initials: A
authors.lastname: Rouen
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Siffroi
mesh_terms: D003241:Consanguinity; D005190:Family; D005602:France / Q000453:epidemiology; D005808:Genes, Recessive; D006801:Humans; D015994:Incidence; D007316:Insemination, Artificial, Heterologous; D008297:Male; D010334:Paternity; D012306:Risk; D013094:Spermatozoa; D009927:Tissue and Organ Procurement
keywords: assisted reproduction; epidemiology; ethics; gamete donation; genetic disorders