RESUMEN
It is still unclear whether the procedures of assisted reproduction increase the risk of congenital malformations. Thus, it remains to be clarified whether an increased risk, if any, of congenital malformations in these children is caused by the procedure of assisted reproduction itself or by the underlying maternal and paternal background. From the genetic point of view, infertility patients seeking assisted reproduction have to be classified as a high-risk group. The prevalence of numerical chromosomal abnormalities is around 10% in these patients, compared with 0.85% in the general population. The prevalence of structural chromosomal abnormalities is around 0.1% in the general population and is increased up to 1% in patients seeking assisted reproduction. In addition, patients with microdeletions of the Y-chromosome or mutations in the cystic fibrosis transmembrane-conductance regulator gene are likely to be encountered at the fertility clinic. Therefore, genetic screening and counselling should be routinely offered to infertility patients. They also need to understand that parental factors can be transferred to offspring that would most likely not have been conceived by natural means.
Asunto(s)
Aberraciones Cromosómicas , Anomalías Congénitas/genética , Asesoramiento Genético , Pruebas Genéticas , Infertilidad Femenina/genética , Infertilidad Masculina/genética , Técnicas Reproductivas Asistidas , Adulto , Deleción Cromosómica , Cromosomas Humanos Y/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Femenino , Humanos , Recién Nacido , Infertilidad Femenina/diagnóstico , Infertilidad Femenina/etiología , Infertilidad Masculina/diagnóstico , Infertilidad Masculina/etiología , Masculino , Mutación , Oligospermia/genética , Embarazo , Prevalencia , Factores de RiesgoRESUMEN
PURPOSE: The azoospermia-factor region of the Y-chromosome is essential for spermatogenesis in humans. In the literature, a wide range is given for the frequency of microdeletions in this region. The purpose of this study was to evaluate our own population of patients. METHODS: During a two-year period at Vienna Medical School, all male patients (n = 383) seeking assisted reproduction were screened for microdeletions. Thirty-three men had azoospermia and 154 severe oligozoospermia. Genomic DNA was prepared from peripheral lymphocytes and polymerase chain reaction analysis of the azoospermia-factor region was performed using the Promega kit. RESULTS: No case tested positive for azoospermia-factor microdeletions. In all cases amplification of 18 non-polymorphic sequence tagged sites was obtained. CONCLUSIONS: Y-chromosome microdeletions do not seem to be an important factor for male infertility in our patients. This suggests that screening should be restricted to men with azoospermia or severe oligozoospermia only.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Y/genética , Infertilidad Masculina/genética , Oligospermia/genética , ADN/análisis , Asesoramiento Genético , Pruebas Genéticas , Humanos , Masculino , Oligospermia/diagnóstico , Reacción en Cadena de la Polimerasa , Técnicas Reproductivas Asistidas , Lugares Marcados de Secuencia , Recuento de EspermatozoidesRESUMEN
PURPOSE: The objective was to explore whether body mass and day 3 follicle-stimulating hormone have predictive value on odds of pregnancy after in vitro fertilisation. Few studies show that obesity produces a variety of alterations in the reproductive system, and that women with an elevation of day 3 FSH have declining ovarian function. METHODS: The data of one-hundred-seventy-one women who underwent a standard regime of controlled ovarian hyperstimulation was analyzed with particular reference to variations in body mass and hormone levels. RESULTS: By raising BMI and FSH (mIU/mL) by one unit, the odds for pregnancy were decreased by the respective factors 0.84 (95% confidence interval 0.73-0.97) and 0.77 (95% confidence interval 0.59-1.00). CONCLUSIONS: The results demonstrate that for the purpose of raising the odds of pregnancy BMI should be reduced. A low FSH value may cause the same effect. Nontheless, obesity and hormonal function may be independent risk factors for failure in assisted reproduction.