ANDROGENESIS AND GYNOGENESIS ARE NOT CAUSATIVE IN EARLY-PREGNANCY LOSS IN HUMANS

OBJECTIVE: Androgenetic and gynogenetic embryos in the mouse have been shown to fail early in development, exhibiting many features that are similar to those seen in early pregnancy loss in humans. Because andr ogenetic or gynogenetic abortuses contain the genetic complement from a single paternal or maternal genome, we used locus-specific minisatel lite probes to determine individual genetic relationships and parentag e from samples of parental blood and abortus tissue, to investigate wh ether androgenesis and gynogenesis contribute to the cause of early pr egnancy loss. STUDY DESIGN: We carried out prospective recruitment ove r 2 years of 145 patients admitted to a teaching hospital in Cambridge with ultrasonographic confirmation of early pregnancy failure RESULTS : Blood and products of conception suitable for complete analysis were obtained from 75 cases. Twenty-seven (56%) of the 48 samples that cou ld be karyotyped had normal chromosome complements, with trisomy 16 th e most frequent aberration (5/21). Both paternal and maternal genomic contributions to the abortuses were found in all cases investigated, i rrespective of the karyotypes of the tissue. Germline mutations were d etected in six of 42 (7.1% per gamete) hybridizations with lambda MS1 and in one of 15 (3.3% per gamete) with p lambda g3, which is higher t han the rate estimate for the general population. No inappropriate pat ernity was detected. CONCLUSION: Androgenesis and gynogenesis are unli kely to be causative in the cause of human early pregnancy loss, but g ermline mutations even in the presence of a normal karyotype could be influential.