Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana

Gimeno-Martos, Silvia; Cavero‐Carbonell, Clara; López-Maside, Aurora; Bosch-Sánchez, S.; Martos-Jiménez, Carmen; Zurriaga, Óscar

doi:10.1016/j.anpedi.2015.09.010

Cited by 2 publications

(1 citation statement)

References 16 publications

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“…The high prevalence of Down syndrome in developed country is attributable to the advanced maternal age at procreation and early screening policies [30].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

et al. 2020

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Background: Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national level. The aim of our study is to conduct a descriptive exploratory analysis of congenital malformations cases diagnosed at the "Les Orangers" Maternity and Reproductive Health Hospital in Rabat. Methods: We collected all the cases of congenital malformations diagnosed at the "Les Orangers" Maternity and Reproductive Health Hospital in Rabat, from January 1st, 2011 to June 31st, 2016. Data were reported on pre-established sheets and on a registry of malformations. Total and specific prevalences were calculated for each malformation. A principal component analysis (PCA) was then conducted followed by a Varimax rotation in order to identify the different associations of malformations in our series. Results: We registred 245 cases of congenital malformations out of a total of 43,923 recorded births; a prevalence of 5.58 per thousand births of which 19.2% were FDIU (fetal deaths in utero). A polymalformative syndrome was found in 26.5% of cases which makes a total number of 470 anomalies. The musculoskeletal anomalies predominate with a rate of 33%, followed by neurological abnormalities 18%, of whom 31% were hydrocephalus, 26.2% anencephaly, and 20.24% spina bifida. Malformations of the eye, ear, face and neck were described in 12% of the cases, while genetic abnormalities were observed in 8,5% of which 87.5% represented Down syndrome. The antenatal diagnosis of congenital malformations was performed in 28.6% of cases. Conclusions: Our study provides a general overview of the epidemiological situation related to different types of congenital anomalies for a specific area in Morocco. It represents a database that should be complemented by other multicenter studies and the implementation of a

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“…The high prevalence of Down syndrome in developed country is attributable to the advanced maternal age at procreation and early screening policies [30].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

et al. 2020

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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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Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana

Cited by 2 publications

References 16 publications

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

Prevalence of congenital malformations at the “les Orangers” maternity and reproductive health Hospital of Rabat: descriptive study of 470 anomalies

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

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