domingo, 3 de noviembre de 2013

The economic burden of genetic tests for the infertil... [J Urol. 2013] - PubMed - NCBI

The economic burden of genetic tests for the infertil... [J Urol. 2013] - PubMed - NCBI

2013 Oct 22. pii: S0022-5347(13)05686-3. doi: 10.1016/j.juro.2013.10.069. [Epub ahead of print]

The economic burden of genetic tests for the infertile male: a pilot algorithm to improve test predictive value.


Department of Urology, Center for Male Fertility, Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, OH 44195. Electronic address: .



To develop a model to optimize the use of genetic testing in infertile men with non-obstructive azoospermia (NOA) and severe oligospermia, assess optimal 'cutoff' value for predicted probability for advising genetic testing, and to evaluate direct cost saving of using the model.


We performed a retrospective review of infertile men who underwent Y microdeletion and karyotype testing in our fertility center from 2006 to 2012. Semen parameters, testicular volume, testosterone, luteinizing hormone (LH), follicular stimulating hormone (FSH), and varicocele were assessed as potential predictors of genetic disorders. We fitted logistic regression to all predictors, and selected a nomogram based on concordance index (C-index) and calibration. We calculated cost saving of using the model.


Of 325 patients, 278 fulfilled our inclusion criteria. 27 men had abnormal karyotype, 11 had a Y microdeletion, and 1 had both. A nomogram was developed using sperm concentration, sperm motility, testes volume, and serum testosterone level. C-index of the nomogram was 0.738. The optimal 'cutoff' value was 13.8%, with sensitivity of 0.788, specificity of 0.590, positive predictive value (PPV) of 0.245 and negative predictive value (NPV) of 0.943. Testing men above 'cutoff' value of 13.8% resulted in direct cost saving of 45%. However, 15.4% of genetic anomalies were missed including two Y microdeletions.


Using common clinical and laboratory parameters, our nomogram detects 84.6% of genetic anomalies. Use of the nomogram results in 45% direct cost saving, but has a real risk of missing pertinent genetic abnormalities.
Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.


Y microdeletion, azoospermia, karyotype, oligospermia, predictive model


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