Human Reproduction, Vol. 14, No. 5, 1266-1273,
May 1999
© 1999 European Society of Human Reproduction and Embryology
Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection
1 Center for Pediatric Research, 2 Jones Institute for Reproductive Medicine, Eastern Virginia Medical School, Norfolk, VA, 3 Dept of Biology, College of William and Mary, Williamsburg, VA, 4 Biomedical Research Center, Korea Advanced Institute of Science and Technology, Taejon, Korea, 5 Centro de Estudios en Ginecologia y Reproduccion, Buenos Aires, Argentina 6 Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Recent evidence suggests that infertile males donating semen for intracytoplasmic sperm injection (ICSI) may be at an increased risk of transmitting numerical (predominantly sex chromosome) abnormalities to their offspring. The present study was designed to determine aneuploidy in spermatozoa from oligoasthenoteratozoospermic (OAT) patients undergoing ICSI. Aneuploidy frequencies of 12 autosomes and the sex chromosomes were determined by fluorescence in-situ hybridization (FISH) on spermatozoa from fresh ejaculate of nine severe OAT patients and four proven fertile donors. FISH, using directly labelled (fluorochrome-dUTP) satellite or contig DNA probes specific for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X, and Y, was performed on decondensed spermatozoa. Per chromosome disomy frequencies for autosomes and sex chomosomes in OAT males were 0–5.4%. In contrast, the disomy frequencies in controls were 0.05–0.2%. The frequency of diploid spermatozoa in OAT patients was 0.4–9.6%; controls showed a mean of 0.04%. Using recently developed formulae, the total aneuploidy in our OAT patient population was estimated to be 33–74%. In contrast, estimates of mean total aneuploidy in the spermatozoa of controls ranged from 4.1 to 7.7%, depending upon method of calculation. Six series of ICSI were performed on five of the OAT patients. Four resulted in no establishment of pregnancy; the others failed to establish ongoing pregnancies. Our cytogenetic data show significantly elevated frequencies of diploidy, autosomal disomy and nullisomy, sex chromosome aneuploidy, and total aneuploidy in OAT patients, which may contribute to the patients' infertility.
Key words: aneuploidy/FISH/ICSI/oligoasthenoteratozoospermia/spermatozoa
6 To whom correspondence should be addressed at: Center for Pediatric Research, 855 West Brambleton Avenue, Norfolk, VA 23510, USA
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