RESUMO
OBJECTIVE: Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier status of selected genetic conditions utilizing an expanded, pan-ethnic genetic carrier screening panel (ECS) in a large population of Mexican patients. METHODS: Retrospective chart review of all patients tested with a single ECS panel at an international infertility center from 2012 to 2018 were included, and the prevalence of positive carrier status in a Mexican population was evaluated. RESULTS: Eight hundred five individuals were analyzed with ECS testing for 283 genetic conditions. Three hundred fifty-two carriers (43.7%) were identified with 503 pathogenic variants in 145 different genes. Seventeen of the 391 participating couples (4.34%) were identified as being at-risk couples. The most prevalent alleles found were associated with alpha thalassemia, cystic fibrosis, GJB2 nonsyndromic hearing loss, biotinidase deficiency, and familial Mediterranean fever. CONCLUSION: Based on the prevalence and severity of Mendelian disorders, we recommend that couples who wish to conceive regardless of their ethnicity background explore carrier screening and genetic counseling prior to reproductive medical treatment.
Assuntos
Triagem de Portadores Genéticos , Doenças Genéticas Inatas/epidemiologia , Cuidado Pré-Concepcional , Adulto , Biotinidase/genética , Deficiência de Biotinidase/epidemiologia , Deficiência de Biotinidase/genética , Conexina 26/genética , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/genética , Feminino , Aconselhamento Genético , Doenças Genéticas Inatas/genética , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/genética , Hemoglobina A/genética , Heterozigoto , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Prevalência , Pirina/genética , Estudos Retrospectivos , Medição de Risco , Talassemia alfa/epidemiologia , Talassemia alfa/genéticaRESUMO
BACKGROUND: To evaluate the prevalence of Müllerian anomalies (MAs) in a cohort of infertile Mexican women candidates for infertility treatments (intrauterine insemination or IVF (In vitro fertilization) cycles). METHODS: We performed a retrospective observational study on a cohort of consecutive women, who underwent hysteroscopy and laparoscopy as part of the basic infertility workup from 2002 to 2014, at our center. Our aim was to calculate the prevalence of MAs and each subtype. RESULTS: A total of 4005 women were included in the study. The MA prevalence was 4.4% (95% CI; 3.8-5.1; n = 177). Among women with MAs, the prevalence of different MA types was: septate uterus 54.2% (n = 96), arcuate uterus 15.8% (n = 28), bicornuate uterus 10.7% (n = 19), unicornuate uterus 8.5% (n = 15), didelphys uterus 6.2% (n = 11) and hypoplasia/agenesis 3.4% (n = 6), unclassifiable 1.1% (n = 2). Women with MAs who achieved pregnancy were: 33.3% (n = 59). The MA associated with the highest pregnancy rate was septate uterus after hysteroscopic correction, at 38.5% (37/96). CONCLUSIONS: The prevalence of MAs among infertile Mexican women can be considered as low, but not negligible. The septate uterus is the most common MA in women with infertility.
