Clinical significance of the prenatal double bubble sign - single institution experience

Kucińska‐Chahwan, Anna; Posiewka, Anna; Bijok, Julia; Jakiel, Grzegorz; Roszkowski, Tomasz

doi:10.1002/pd.4652

Cited by 14 publications

(9 citation statements)

References 13 publications

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“…Second, early noninvasive prenatal testing (NIPT) can detect aneuploidy with high sensitivity and specificity, and these pregnancies are likely terminated by parents before a detailed sonographic survey 19 . Furthermore, fetal DO is almost always detected in the late second or third trimester 20 ; indeed, the mean timing of invasive testing in our cohort was 27 + 5 weeks. This later assessment might also increase the exclusion of fetuses with associated anomalies and aneuploidy.…”

Section: Discussionmentioning

confidence: 86%

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: Discussionmentioning

confidence: 86%

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

Zhang

Lei

et al. 2021

Prenatal Diagnosis

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“…Earlier case reports or case series aided to establish the association of prenatal double bubble sign to duodenal atresia and its association to aneuploidy, mostly trisomy 21 [4][5][6][7][8]. More recent studies have presented additional anatomical and chromosomal defects, as well as outcome data, including postnatal findings, though none were within the United States [9,10].…”

Section: Discussionmentioning

confidence: 99%

“…Studies suggest that about one-third of those diagnosed prenatally with duodenal atresia have Down syndrome, and that overall 3-5% of those with trisomy 21 have duodenal atresia [6,7]. Few studies to date have explored other potential genetic etiologies of duodenal atresia, with most genetic investigations being limited to aneuploidy testing [8][9][10]. Identification of other genetic etiologies of duodenal atresia would be beneficial for purposes of disease characterization, screening and detection, and prenatal diagnosis counseling.…”

Section: Introductionmentioning

confidence: 99%

The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies

et al. 2019

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Background: The "double bubble" sign is an ultrasonographic finding that commonly represents duodenal atresia and is associated with trisomy 21. Objectives: We sought to evaluate the positive predictive value of a prenatally identified double bubble sign for duodenal atresia and the genetic etiologies associated with it. Methods: We examined a retrospective cohort with prenatal double bubble sign between January 1, 2008, and June 30, 2017. Postnatal diagnoses were determined by review of operative reports and additional postnatal evaluation including cytogenetic analysis, molecular analysis, and/or clinical genetic evaluation. Results: All live births at our institution with a prenatal double bubble sign had confirmed duodenal atresia. Additional anatomic anomalies and/or genetic abnormalities were identified in 62% of cases. Out of 21 cases, 6 had trisomy 21. Of the remaining 15 cases, 8 were nonisolated duodenal atresia, 3 of which had a heterotaxy syndrome. In the 7 isolated cases, 1 likely pathogenic chromosomal microdeletion was identified. Conclusions: Prenatal double bubble sign is a reliable predictor of duodenal atresia. In addition to trisomy 21, heterotaxy may be encountered. ZIC3 mutations as well as microdeletion of 4q22.3 may be underlying genetic etiologies to be considered in the diagnostic evaluation of a prenatal double bubble sign.

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“…In most cases, the diagnosis of CDO is made during the late 2 nd trimester, with the mean gestational age of diagnosis ranging between 29 and 32 weeks, as revealed using conventional 2D ultrasound. [56] Fetal MRI presents an important feature in intestinal abnormalities because in cases of obstruction, the meconium constitutes a natural contrast in T1 sequences, allowing fetal MRI to identify the distal bowel position and to evaluate malrotation pathologies, such as midgut volvulus and Ladd's band. [7] In the present case, MRI allowed to study the distal intestine, demonstrating duodenal permeability through the presence of meconium.…”

Section: Discussionmentioning

confidence: 99%

Congenital duodenal stenosis: Prenatal evaluation by three-dimensional ultrasound HDlive silhouette mode, magnetic resonance imaging, and postnatal outcomes

et al. 2019

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The “double bubble” sign is a common sign of congenital duodenal obstruction (CDO), which has been detected during prenatal diagnosis for over 40 years. CDO is strongly associated with chromosomal and structural abnormalities and encompasses a wide spectrum of diagnoses. Here, we describe a case of duodenal stenosis, a rare cause of duodenal obstruction, which was suspected using conventional two-dimensional ultrasound and three-dimensional reconstruction with the HDlive silhouette mode at the 28th prenatal week. The suspicion was further supported by magnetic resonance imaging performed at the 32nd prenatal week and confirmed by postnatal surgery.

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Clinical significance of the prenatal double bubble sign - single institution experience

Abstract: Sonographic double bubble sign is associated with a significant rate of major anatomic defects, abnormal karyotype, and unfavorable pregnancy outcome. It is strongly indicative of duodenal obstruction.

Cited by 14 publications

References 13 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

The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies

Congenital duodenal stenosis: Prenatal evaluation by three-dimensional ultrasound HDlive silhouette mode, magnetic resonance imaging, and postnatal outcomes

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