RESUMO
OBJECTIVE: Although chromosomal heteromorphisms are commonly found in the general population, some researchers have suggested a correlation with higher rates of embryo aneuploidy. This study aimed to assess the rates of embryo aneuploidy in couples who carry a chromosome heteromorphism. METHODS: The study included couples who had G-banding karyotype testing and underwent an IVF/PGT-A cycle between January 2012 and March 2018. The participants were classified by couple karyotype: Group A: ≥1 patient reported to be a heterochromatic variant carrier; Group B: both partners reported to be "normal". We assessed the rates of aneuploidy among the groups. We ran a multivariate regression analysis to assess the relationship between heterochromatic variants and the rates of embryo aneuploidy. RESULTS: Of the 946 couples analyzed, 48 (5.0%) reported being a carrier of ≥1 heterochromatic variant. We had 869 IVF/PGT-A cycles included in the analysis (Group A: n=48; Group B: n=82). There were no significant differences in embryo ploidy rates among the groups. The heterochromatic chromosome variant was not associated with increased likelihoods of aneuploidy (OR=1.04, CI:95% 0.85- 1.07; p=0.46). Finally, the gender of the heterochromatic variant carrier had no association with increased likelihood of aneuploidy (OR 1.02, CI 95% 0.81-1.28, p=0.82). CONCLUSIONS: Our study showed no association between parental heterochromatic chromosome variants and subsequent embryo aneuploidy rates. Ploidy rates do not appear to be negatively associated with couples when at least one patient is reported to be a carrier of a heterochromatic variant on the karyotype.
Assuntos
Diagnóstico Pré-Implantação , Aneuploidia , Blastocisto , Cromossomos , Feminino , Fertilização in vitro , Testes Genéticos , Humanos , Pais , Gravidez , Taxa de Gravidez , Estudos RetrospectivosRESUMO
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
Resumen OBJETIVO: Revisar la bibliografía de la prevalencia, factores de riesgo, síntomas, diagnósticos y tratamiento de las pacientes con istmocele. MÉTODO: Búsqueda electrónica en las bases de datos: PubMed, EMBASE y Google Scholar. Se utilizaron los siguientes términos, palabras y sus combinaciones: "Cesarean section defect, uterine niche, isthmocele, uterine sacculation, uterine diverticulum, uterine pouch, isthmocele diagnosis, segmentocele y isthmocele treatment". La variable primaria estudiada fueron los síntomas asociados con el istmocele. Las variables secundarias: prevalencia, factores de riesgo, diagnóstico y tratamiento. RESULTADOS: Se reunieron 549 artículos de los que se eliminaron 288 por duplicidad y 228 no cumplieron los criterios de inclusión; al final solo se analizaron 33 artículos. El istmocele tiene una prevalencia de 15 a 84% en mujeres con antecedente de cesárea. Su incidencia se correlaciona directamente con la cantidad de cesáreas previas. Su aparición puede ser sintomática o asintomática. La manifestación clínica más común es el sangrado uterino anormal, que sucede en 28.9 a 82% de los casos. Incluso 88% se diagnostican en el ultrasonido transvaginal. La histeroscopia quirúrgica se asoció con disminución de los síntomas en 56.9 a 100%. CONCLUSIONES: El istmocele suele identificarse de manera fortuita en el ultrasonido transvaginal y casi siempre es asintomático. Puede ocasionar sangrado uterino anormal e infertilidad secundaria. Su prevalencia depende del método diagnóstico utilizado. La histeroscopia es el método de tratamiento más efectivo.
Abstract OBJECTIVE: Review the literature on the prevalence, risk factors, symptoms, diagnoses and treatment of patients with isthmocele. METHOD: An electronic search was performed using the following databases: PubMed, EMBASE and Google Scholar. The following terms, words and their combinations were used: "Cesarean section defect, uterine niche, isthmocele, uterine sacculation, uterine diverticulum, uterine pouch, isthmocele diagnosis, segmentocele y isthmocele treatment". The primary outcome was the symptoms associated with a cesarean scar defect. The secondary outcomes were prevalence, risk factors, diagnosis and treatment of istomocele. RESULTS: 549 articles were collected, of which 288 were eliminated due to duplication and 228 did not meet the inclusion criteria; In the end, only 33 articles were analyzed. A prevalence of 15 to 84% was found in women with a previous caesarean section. The prevalence of this alteration is correlated with the number of cesarean sections; the greater the number of caesarean sections, the greater the risk of developing an isthmocele. Its presence can be symptomatic or asymptomatic. The most common symptom is abnormal uterine bleeding, occurring in a 28.9% to 82% of the patients. Up to 88% of cases are diagnosed by a transvaginal ultrasound. A surgical hysteroscopy was associated with a 56.9% to a 100% improvement of symptoms. CONCLUSIONS: Isthmocele is commonly identified incidentally through a transvaginal ultrasound and is usually asymptomatic. It can cause abnormal uterine bleeding and secondary infertility. Its prevalence depends on the diagnostic method used. A surgical hysteroscopy is the most effective treatment method.