Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound

Sepúlveda, Waldo; Corral, Edgardo; Ayala, Cecilio Rodríguez; Be, Cecilia; Gutiérrez, Juan Martín; Vasquez, Patricio

doi:10.1002/uog.964

Cited by 78 publications

(42 citation statements)

References 31 publications

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“…The most frequent chromosome abnormality was trisomy 18 (15/27, 56%). Our results showed a slightly higher frequency of chromosome abnormalities than the 5-10% rate in other studies [31,32,33]. Moreover, the distribution of chromosomally abnormal cases varied depending on the type of fetal defect.…”

Section: Discussioncontrasting

confidence: 54%

“…Moreover, the distribution of chromosomally abnormal cases varied depending on the type of fetal defect. In our study, 18% (18/100) of cases with spina bifida had chromosomal abnormality, which was clearly higher than the 8-10% reported in the above-cited papers [31,32,33] but in accordance with the 16-20% rates reported in two others [29,30]. Chromosomal abnormality was found in 10% of anencephaly: this contrasted with the study of Sepulveda et al [33] who reported only one chromosomal abnormality among 57 cases of anencephaly.…”

Section: Discussioncontrasting

confidence: 48%

“…In our study, 18% (18/100) of cases with spina bifida had chromosomal abnormality, which was clearly higher than the 8-10% reported in the above-cited papers [31,32,33] but in accordance with the 16-20% rates reported in two others [29,30]. Chromosomal abnormality was found in 10% of anencephaly: this contrasted with the study of Sepulveda et al [33] who reported only one chromosomal abnormality among 57 cases of anencephaly. Interestingly, no chromosomal abnormality was identified in our group of cephalocele, contrasting with a frequency about 15% in the literature [33,34,35,36].…”

Section: Discussioncontrasting

confidence: 48%

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Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

et al. 2014

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Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.

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Section: Discussioncontrasting

confidence: 54%

Section: Discussioncontrasting

confidence: 48%

Section: Discussioncontrasting

confidence: 48%

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Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

et al. 2014

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“…Abnormal migration, proliferation and differentiation of these cells results in congenital malformation in this region. 19 This type of fused truncus was noted in one case of craniorachischisis. Although, there was a slight groove externally, there was no ridge internally (7.69%).…”

Section: However Nakatsu Et Al (2000) Observed 3 Sites Ofmentioning

confidence: 95%

Neural Tube Defects and Associated Congenital Malformations in Intrauterine Dead and Stillborn Foetuses- A Cross-Sectional Study

Kuruppath¹,

Sheela²

2017

jemds

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BACKGROUNDNeural tube defects are one of the commonest cause of congenital malformations, which affects 4.5 per 1000 total births in India. 1 These defects occur due to abnormal neurulation during embryogenesis. Neural tube defects (NTD) are grouped into upper NTD and lower NTD. Upper NTDs are more severe than lower NTDs and these may cause spontaneous abortion, death in utero and perinatal deaths. The foetuses with NTDs show congenital malformations of other organs. Among these cardiovascular, genitourinary and musculoskeletal anomalies are most common.This study aims at examining severity of neural tube defects and associated congenital malformations in intrauterine dead and stillborn foetuses. MATERIALS AND METHODSThis cross-sectional study was done in 50 foetuses. Among fifty foetuses, 13 IUD babies with visible NTDs were selected for this study. Gross external and internal examination of the foetuses were done. RESULTSAmong fifty foetuses, thirteen were affected by NTD. Craniorachischisis was the commonest anomaly (9 foetuses, 69.23%) followed by cranioschisis (2 foetuses, 15.38%). One foetus had occipital encephalocele and another one had hydrocephalus with meningomyelocele. Some associated malformations like adrenal hypoplasia, Meckel's Diverticulum, persistent truncus and double ureters were noted. The associated anomalies were explained on embryological basis. CONCLUSIONFormation of neural tube is a complex process. Defects in its formation can lead to abnormality in development of the nervous system. It also can affect the development of other systems in our body.

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“…Típicamente, se describen como anomalías de origen multifactorial (poligénico-ambiental), aunque en algunos casos existe asociación con ciertos síndromes genéticos (Meckel-Gruber, Jarcho-Levine, Wardenburg) o con anomalías cromosómicas (trisomía 18). En nuestro medio se ha comunicado una prevalencia de anomalía cromosómica en DTN de 2% para anencefalia, 9% para espina bífida y de 14% para cefalocele 2 .…”

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Defectos congénitos cráneo-encefálicos: variedades y respuesta a la fortificación de la harina con ácido fólico

S¹,

S²,

G³

et al. 2006

Rev. méd. Chile

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Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound

Abstract: Objectives

Cited by 78 publications

References 31 publications

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

Neural Tube Defects and Associated Congenital Malformations in Intrauterine Dead and Stillborn Foetuses- A Cross-Sectional Study

Defectos congénitos cráneo-encefálicos: variedades y respuesta a la fortificación de la harina con ácido fólico

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