Prenatal identification of esophageal atresia: the role of ultrasonography for evaluation of functional anatomy

Shulman, Adrian; Mazkereth, Rami; Zalel, Yaron; Kuint, Jacob; Lipitz, Shlomo; Avigad, Itamar; Achiron, R.

doi:10.1002/pd.375

Cited by 92 publications

(55 citation statements)

References 12 publications

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“…The branchial arches contribute extensively to the growth of the face, oronasal cavities, palate, larynx, pharynx, and neck. 6 Congenital abnormalities of the fetal neck include those associated with fetal aneuploidies (cystic hygroma 7,8 ), the presence of embryologic remnants (thyroglossal duct and branchial cleft cysts [9][10][11][12] ), primary structural abnormalities (laryngeal cysts/ stenosis/atresia, [13][14][15][16][17] proximal esophageal atresia, 18 and bronchogenic cysts 19 ), functional abnormalities (goiters 20,21 ), benign tumors (lymphangioma, 22,23 hemangioma, 24 hemangiopericytoma, 25 and teratoma [26][27][28] ), malignant tumors (neuroblastoma 29 and rhabdomyoma 30,31 ), and an extensive array of syndromes (including Schinzel-Giedion, Yunis-Varon, and Escobar syndromes 32 ). In addition, subtle soft tissue changes of the upper posterior aspect of the fetal neck have been used in the second-trimester detection of trisomy 21 (nuchal thickness 33 Currently, a relative paucity of literature exists pertaining to precise sonographic measurements of the fetal neck.…”

Section: Discussionmentioning

confidence: 99%

Nomograms of the Fetal Neck Circumference and Area Throughout Gestation

Sherer

Sokolovski

Dalloul

et al. 2007

Journal of Ultrasound in Medicine

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Section: Discussionmentioning

confidence: 99%

Nomograms of the Fetal Neck Circumference and Area Throughout Gestation

Sherer

Sokolovski

Dalloul

et al. 2007

Journal of Ultrasound in Medicine

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“…Polyhydraminos alone is a poor indication of oesophageal atresia (1% incidence). Available methods of improving the prenatal diagnostic rate include ultrasound examination of the fetal neck to view the blind-ending upper pouch [16] and to observe fetal swallowing and magnetic resonance imaging [17]. …”

Section: Clinical Description and Diagnosismentioning

confidence: 99%

Oesophageal atresia

Spitz

2007

Orphanet J Rare Dis

409

352

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Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is a tracheooesophageal fistula without atresia. OA occurs in 1 in 2500 live births. Infants with OA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects). The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh). The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. The diagnosis may be suspected prenatally by a small or absent stomach bubble on antenatal ultrasound scan at around 18 weeks gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. A nasogastric tube should be passed at birth in all infants born to a mother with polyhydramnios as well as to infants who are excessively mucusy soon after delivery to establish or refute the diagnosis. In OA the tube will not progress beyond 10 cm from the mouth (confirmation is by plain X-ray of the chest and abdomen). Definitive management comprises disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the oesophagus. Where there is a "long gap" between the ends of the oesophagus, delayed primary repair should be attempted. Only very rarely will an oesophageal replacement be required. Survival is directly related to birth weight and to the presence of a major cardiac defect. Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30-50% in the presence of both risk factors.

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“…In recent decades, prenatal visualization of the proximal esophageal pouch has received increasing interest18–22 because of its high specificity in the diagnosis of esophageal atresia19, 20. It has also been suggested that the level of the pouch may be of prognostic value23, 24. The accuracy of the prenatal diagnosis of esophageal atresia might be further improved by three‐dimensional (3D) ultrasound25 and by MRI26.…”

Section: Introductionmentioning

confidence: 99%