Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome.

Objective: To characterize rates of chromosome aneuploidy in sperm from three siblings, one of whom had an IVF/ICSI conceptus with trisomy 15.

Design: Blind evaluation of the sperm chromosome aneuploidy rates, semen quality, and sperm ultrastructure.

Setting: IVF clinic and university-based andrology research laboratory.

Patient(s): Three brothers, two of whom underwent infertility evaluation and therapy.

Main Outcome Measure(s): Semen from three siblings was coded and blindly evaluated for standard World Health Organization semen quality variables and sperm ultrastructure. Sperm were decondensed and hybridized with fluorescent probes specific for chromosomes X, Y, 13, 15, 18, and 21, then evaluated microscopically to determine the aneuploidy rate for those chromosomes.

Result(s): Two siblings had increased round-headed morphology on standard morphology evaluation, which was confirmed using electron microscopy. The sperm aneuploidy rate was significantly increased for chromosome 15 in sibling 1, the father of a conceptus with trisomy 15. Aneuploidy rates were also slightly increased for chromosomes X, Y, and 18 in sibling 1.

Conclusion(s): This is the second report of increased sperm chromosome aneuploidy in infertile patients with round-headed sperm. Although ICSI is successful in treating this syndrome, the risk for aneuploidy of the conceptus may be increased. Other studies have reported an increased incidence of sperm chromosome aneuploidy in some infertile patients, but this is the first report of aneuploidy in both the sperm and conceptus of a patient undergoing IVF/ICSI.