Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature

Miscia, Maria Enrica; Lauriti, Giuseppe; Chiesa, Pierluigi Lelli; Zani, Augusto

doi:10.1007/s00383-018-4387-1

Cited by 30 publications

(32 citation statements)

References 37 publications

(71 reference statements)

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“…Typically, over half of these cases are detected prenatally on fetal ultrasonography in the second or third trimester, with the characteristic presence of a “double bubble” sign in the upper abdomen representing a dilated fluid‐filled stomach and proximal duodenum. It is either an isolated finding or in association with other congenital anomalies, including cardiac defects, intestinal atresia, renal anomalies, and chromosomal aberrations 3,4 . Thus, prenatal genetic testing and pediatric consultation are important.…”

Section: Introductionmentioning

confidence: 99%

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Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Zhang

Lei

et al. 2021

Prenatal Diagnosis

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Objective To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. Materials and methods This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first‐tier test in our institution between January 2014 and May 2019. Results The frequency of pathogenic aberrations in fetuses with DO was 15.7% (8/51), including 9.8% (5/51) pathogenic CNVs. Three fetuses with isolated DO each had a deletion on chromosome 13q, one fetus had duplication at 1q43q44, and one had microduplication at 17q12. No significant differences in pathogenic CNVs were observed between isolated DO and DO plus additional anomalies (4/42, 9.5% vs 1/9, 11.1%, P = .89). Of the 51 fetuses with DO, 11 pregnancies were terminated, and eight fetuses had chromosomal abnormalities; one pregnancy ended with intrauterine death, and there were 39 live births. Neonatal outcomes were available for 31 fetuses, and no neonatal deaths occurred after surgery. Conclusions Our cohort study demonstrated the value of CMA in fetuses with DO, suggesting that CNVs may underly genetic etiologies that should be considered in the diagnostic evaluation of DO. We think CMA should be recommended in case of DO.

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Section: Introductionmentioning

confidence: 99%

“…It is either an isolated finding or in association with other congenital anomalies, including cardiac defects, intestinal atresia, renal anomalies, and chromosomal aberrations. 3,4 Thus, prenatal genetic testing and pediatric consultation are important.…”

Section: Introductionmentioning

confidence: 99%

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Zhang

Lei

et al. 2021

Prenatal Diagnosis

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“…Duodenal atresia is often associated with other gastrointestinal anomalies alone or as part of a VACTERL syndrome. 2 In particular, DA can be found in 3 to 6% of babies with EA. 1,[3][4][5] It is postulated that an early damage during organogenesis could explain this association.…”

Section: Discussionmentioning

confidence: 99%

Esophageal Atresia and Associated Duodenal Atresia: A Cohort Study and Review of the Literature

et al. 2020

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Introduction Esophageal atresia (EA) is associated with duodenal atresia (DA) in 3 to 6% of cases. The management of this association is controversial and literature is scarce on the topic. Materials and Methods We aimed to (1) review the patients with EA + DA treated at our institution and (2) systematically review the English literature, including case series of three or more patients. Results Cohort study: Five of seventy-four patients with EA had an associated DA (6.8%). Four of five cases (80%) underwent primary repair of both atresia, one of them with gastrostomy placement (25%). One of five cases (20%) had a delayed diagnosis of DA. No mortality has occurred. Systematic Review: Six of six-hundred forty-five abstract screened were included (78 patients). Twenty-four of sixty-eight (35.3%) underwent primary correction of EA + DA, and 36/68 (52.9%) underwent staged correction. Nine of thirty-six (25%) had a missed diagnosis of DA. Thirty-six of sixty-eight underwent gastrostomy placement. Complications were observed in 14/36 patients (38.9 ± 8.2%). Overall mortality reported was 41.0 ± 30.1% (32/78 patients), in particular its incidence was 41.7 ± 27.0% after a primary treatment and 37.0 ± 44.1% following a staged approach. Conclusion The management of associated EA and DA remains controversial. It seems that the staged or primary correction does not affect the mortality. Surgeons should not overlook DA when correcting an EA.

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“…За власними даними, при атрезії голодної кишки спостерігалося надмір не виділення стазу зі шлунка, як і при дуоде нальній обструкції, проте при атрезії здухвин ної кишки кількість стазу достовірно менша (Р<0,05). Це пояснюється тим, що при ілеаль ній атрезії кишковий вміст депонується в дистальних відділах тонкої кишки, тому його накопичення в шлунку відсутнє [5,15]. Здуття живота в пацієнтів із ПНТК відбу вається через надмірне внутрішньоутробне накопичення кишкового вмісту в дилатованих петлях атрезованої тонкої кишки та поступово зростає постнатально з моменту заковтування повітря новонародженою дитиною [4,9,15].…”

Section: дискусіяunclassified

“…За літературними джерелами, у дітей з част ковою обструкцією ДПК відходження меконію може бути нормальним або незначно поруше ним [4,5,11]. Аналогічні дані виявлені в пацієн тів із повною високою і низькою ПНТК [2,5,7]. Меконій може мати нормальний вигляд, але, частіше, через пряму кишку відходять лише ахо лічні слизові пробки [2,4,5].…”

Section: дискусіяunclassified

Features of the small intestinal atresia clinical manifestation in newborns in the first minutes of their life

Sliepov¹,

Migur²,

Ponomarenko³

et al. 2021

UJPP

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Clinical signs of small bowel atresia, which are widely described in the literature, usually develop after the first day of life. Studies on the clinical manifestations of intestinal atresia in newborns in the first minutes of their lives are still lacking. Purpose — to identify clinical signs of different types of intestinal atresia which can be detected by physical examination of the newborn, immediately after birth. Materials and methods. A retrospective study of 77 newborns with congenital small intestinal obstruction (SIO) who underwent surgical management at the Neonatal Surgery Center for Congenital Malformations and their Rehabilitation SI «Institute of Pediatrics, Obstetrics and Gynecology named after acad. E.M. Lukyanova of the NAMS of Ukraine» was conducted. The clinical manifestations of SIO in patients with duodenal (n=44), jejunal (n=14) and ileal (n=19) atresia were studied and a statistical analysis was performed. Results. There was no significant difference in the volume of gastric stasis, abdominal bloating and meconium discharge in patients with different types of duodenal obstruction (P>0.05). It was found that patients with duodenal and jejunal obstruction, immediately after birth, have a significantly higher volume of gastric stasis (38.0±23.9 ml and 42.3±20.0 ml, respectively) compared with patients who had ileal atresia (14.7±12.8 ml), (P<0.05). There were no significant differences in the incidence of abdominal bloating and meconium discharge (P>0.05). Conclusions. Duodenal and jejunal atresia are associated with excessive gastrostasis, but meconium discharge may be normal. Abdominal bloating always occurs in duodenal atresia and may be absent in jejunal and ileal atresia. In patients with ileal atresia, there may be no signs of intestinal obstruction immediately after birth. Level of evidence. Level III. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of an participating institution. The informed consent of the child's parents was obtained from the studies. No conflict of interest was declared by the authors. Key words: atresia, small intestine, clinical manifestations, newborns.

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Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature

Cited by 30 publications

References 37 publications

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Esophageal Atresia and Associated Duodenal Atresia: A Cohort Study and Review of the Literature

Features of the small intestinal atresia clinical manifestation in newborns in the first minutes of their life

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