Ana Rita Jesus1, Sandra Silva-Soares2, Joaquina Silva3, Milton Severo4,5, Alberto Barros1,3,6, Sofia Dória7,8. 1. Genetics Department, Faculty of Medicine (FMUP), University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal. 2. Unidade de Medicina da Reprodução, Centro Hospitalar Universitário São João (CHUSJ), Professor Hernâni Monteiro, 4200-319, Porto, Portugal. 3. Centro de Genética e Reprodução Professor Alberto Barros, Avenida do Bessa, 4100-012, Porto, Portugal. 4. EPIUnit - Institute of Public Health, University of Porto, Professor Hernâni Monteiro, 4200-319, Porto, Portugal. 5. Department of Public Health and Forensic Sciences and Medical Education, Faculty of Medicine (FMUP), University of Porto, Professor Hernâni Monteiro, 4200-319, Porto, Portugal. 6. I3S - Instituto de Investigação e Inovação em Saúde, University of Porto, Avenida do Bessa, 4100-012, Porto, Portugal. 7. Genetics Department, Faculty of Medicine (FMUP), University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal. sdoria@med.up.pt. 8. I3S - Instituto de Investigação e Inovação em Saúde, University of Porto, Avenida do Bessa, 4100-012, Porto, Portugal. sdoria@med.up.pt.
Abstract
PURPOSE: Infertility is estimated to affect 15% of couples, having chromosome abnormalities an important role in its etiology. The main objective of this work was to access the reproductive success of ART in infertile couples with chromosomal abnormalities comparing to a control group with normal karyotype. METHODS: A 7-year retrospective karyotype analysis of infertile couples was done. Data regarding type of infertility, couples' ages, ART performed, and their reproductive success were obtained. Adjusted odds ratio (OR) were used to estimate magnitude of association between the reproductive success and the different groups. RESULTS: We found a prevalence of 7.83% of chromosome abnormalities in our population (233 couples out of 2989). Chromosomal anomalies were found in 82 men (34.75%) and 154 women (65.25%), with low-grade mosaicism being the most prevalent (50.85%), followed by autosomal translocations (17.37%) and sex chromosomes abnormalities (13.56%). Only 2359 couples were treated with ART. There was a non-significant lower reproductive success rate in the cases (OR = 0.899, p = 0.530) with IVF providing the higher success rate. In general, female carriers of chromosome anomalies had a higher success rate, although not significant. CONCLUSION: Although the differences regarding success rate between groups were not found statistically significant, we still advocate that cytogenetic analysis should be performed routinely in all infertile couples namely before ART. This might help deciding the best treatment options including Preimplantation Genetic Testing for aneuploidies or structural rearrangements and minimize the risk of transmission of anomalies to the offspring.
PURPOSE:Infertility is estimated to affect 15% of couples, having chromosome abnormalities an important role in its etiology. The main objective of this work was to access the reproductive success of ART in infertile couples with chromosomal abnormalities comparing to a control group with normal karyotype. METHODS: A 7-year retrospective karyotype analysis of infertile couples was done. Data regarding type of infertility, couples' ages, ART performed, and their reproductive success were obtained. Adjusted odds ratio (OR) were used to estimate magnitude of association between the reproductive success and the different groups. RESULTS: We found a prevalence of 7.83% of chromosome abnormalities in our population (233 couples out of 2989). Chromosomal anomalies were found in 82 men (34.75%) and 154 women (65.25%), with low-grade mosaicism being the most prevalent (50.85%), followed by autosomal translocations (17.37%) and sex chromosomes abnormalities (13.56%). Only 2359 couples were treated with ART. There was a non-significant lower reproductive success rate in the cases (OR = 0.899, p = 0.530) with IVF providing the higher success rate. In general, female carriers of chromosome anomalies had a higher success rate, although not significant. CONCLUSION: Although the differences regarding success rate between groups were not found statistically significant, we still advocate that cytogenetic analysis should be performed routinely in all infertile couples namely before ART. This might help deciding the best treatment options including Preimplantation Genetic Testing for aneuploidies or structural rearrangements and minimize the risk of transmission of anomalies to the offspring.
Authors: F Zegers-Hochschild; G D Adamson; J de Mouzon; O Ishihara; R Mansour; K Nygren; E Sullivan; S Vanderpoel Journal: Fertil Steril Date: 2009-10-14 Impact factor: 7.329
Authors: M Oliver-Bonet; J Benet; F Sun; J Navarro; C Abad; T Liehr; H Starke; C Greene; E Ko; R H Martin Journal: Hum Reprod Date: 2005-02-02 Impact factor: 6.918