Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río

Vargas, Paula; M, Sebastián Sepúlveda; Kusanovic, Juan Pedro; Parra, Zasha; Mellado, Cecília; Pardo, Rosa; Silva, Karla; Díaz, Francisco; Ferrer, Fernando; Córdova, Víctor; Valdés, Rafael; Martinovic, Carolina; Salas, Carolina; Cortes, P. Broto

doi:10.4067/s0717-75262016000200002

Cited by 2 publications

(1 citation statement)

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“…In this study, a conclusive finding of chromosomal disorders or polymorphisms was obtained in 20.9% of patients with diverse clinical indications. In Latin America, the prevalence of chromosomal abnormalities in invasive prenatal diagnosis varies from 2.8% (Cuba) (Méndez‐Rosado et al, ), 14.0% (Colombia) (Fandiño‐Losada, Lucumí‐Villegas, Ramírez‐Cheyne, Isaza‐De Lourido, & Saldarriaga, ), 30% (Mexico) (Gómez‐Puente, Esmer‐Sánchez, & Quezada‐Espinoza, Martínez‐de Villarreal, ) up to 31% (Chile) (Vargas et al, ), which includes pregnancies with advanced maternal age, atypical ultrasound findings, parental carriage of chromosome alterations, abnormal maternal serum markers by invasive diagnostic testing. An expected higher frequency of chromosomal abnormalities, 69.5%, that causes spontaneous abortion was informed in Peruvian study (Quiroga de Michelena et al, ).…”

Section: Discussionmentioning

confidence: 99%

Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Paz‐y‐Miño

Yumiceba

Moreta³

et al. 2019

Molec Gen & Gen Med

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Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. Methods: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms. Results: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).Complementary to conventional cytogenetics tests, molecular tools have allowed

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Section: Discussionmentioning

confidence: 99%