case report esophageal atresia

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Ultrasound Obstet Gynecol 2003; 21: 494–497Published online 4 April 2003 in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/uog.58

Prenatal diagnosis of esophageal atresia with the pouch sign

G. CENTINI, L. ROSIGNOLI, A. KENANIDIS and F. PETRAGLIA

Prenatal Diagnosis Centre, Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Siena, Italy

K E Y W O R D S: esophageal atresia; prenatal diagnosis

ABSTRACT

A 19-year-old primipara was referred to our center fora routine scan at 33+ 4 weeks’ gestation. A visible but small stomach bubble (18 mm) was detected in the fetal abdomen, associated with a dilation of the esophagus

with a tapering distal part. Direct visualization of filling and emptying of the proximal esophagus suggested the

presence of obstruction. A cystic pouch in the regionof the esophagus was observed to be full and emptyin accordance with fetal swallowing. No other fetal anomalies were detected. Fetal biometric measurementswere on the 10th percentile and polyhydramnios wasdetected. Esophageal atresia type I was suspected. Fetal karyotyping was declined by the parents, no therapy was

given and the pregnancy continued until week 37 when afemale baby was delivered following spontaneous labor.Esophageal atresia type I was radiographically confirmed.Bougienage was used for 8 weeks and esophageal anastomosis was successfully performed when the infant was 11 months old. No other anomalies were found and the child is currently in excellent health. The present case shows that the upper neck pouch sign may be adelayed manifestation present only in certain types of esophageal atresia. However, when it occurs it should

prompt careful fetal examination as it is an important step in the diagnosis of esophageal atresia. Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.

INTRODUCTION

Esophageal atresia is characterized by the absence of a segment of the esophagus and in most cases it isassociated with a fistula between the gastrointestinal andthe respiratory tracts. Normal division of the foregutinto trachea and esophagus occurs in the fourth weekof gestation. The esophagus and trachea develop froma common diverticulum of the primitive pharyngealcavity. The diverticulum subsequently partitioned bythe tracheoesophageal septum forms the laryngotracheal

tube and the esophagus. The development of the upper

respiratory and gastrointestinal tracts takes place betweenday 21 and week 5 of gestation. In view of theircommon embryonic origin, it is not surprising thatanomalies of the trachea and esophagus are often

associated1

. Any interruption of embryonic septationresults in an esophageal atresia and tracheoesophagealfistula (TEF). Generally these abnormalities occur together

and only occasionally separately: the most common formis esophageal atresia with distal TEF (87%). Isolated

esophageal atresia and isolated TEF occur in 8% and5% of cases, respectively. The overall incidence is 1 in3000 births2. The etiology of this condition is unknown;there is no demonstrable genetic predisposition, andoccurrence seems to be sporadic3. There is no established

sex preponderance. Chromosomal, gastrointestinal, andurogenital anomalies are found in 58% of patients and

congenital heart disease in 15 –39%4 – 7

. The prognosis of esophageal atresia depends on four factors: associatedcongenital malformations, respiratory complications,birth weight, and gestational age at delivery.

The prenatal detection of esophageal atresia is possibleand is based on the ultrasonographic findings of asmall or absent fetal stomach bubble associated with

polyhydramnios8,9. The overabundance of amniotic fluid(AF) is related to decreased turnover as a consequence

of the esophageal obstruction and occurs in 32% of infants with EA10,11. Visualization of a fluid-filled pouchcorresponding to the atretic segment of the esophagus hasbeen proposed as the most reliable sign of esophagealatresia. The use of the pouch sign can increase thepositive predictive value of ultrasonography, and recentlyhas been differentiated into two forms: the mediastinal

pouch (when the pouch is seen below the clavicle)and the neck pouch (when in the cervical area). Theexact location of the pouch seems to be important inproviding the prognosis of esophageal atresia, as thepresence of a mediastinal pouch has been found to have abetter prognosis, lower incidence of associated anomalies,

Correspondence to: Dr G. Centini, Chair of Obstetrics and Gynecology, University of Siena, Policlinico ‘Le Scotte’, Viale Bracci 1, 53100Siena, Italy (e-mail: [email protected])

Accepted: 18 December 2002

Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. C A S E R E P O R T



Prenatal diagnosis of esophageal atresia 495

and require only a one-stage operation12,13. Prenataldiagnosis enables parents to be prepared for the birth andtreatment of their affected child, permits prompt neonatalmanagement, thereby avoiding potentially hazardousdelays in diagnosis, and leads to earlier identificationof associated anomalies.

Early diagnosis is also important to avoid complicationsof aspiration and chemical pneumonia. Early managementrequires gastrostomy and continuous suction of the blindupper pouch. Surgical repair is normally undertaken whenthe infant’s condition becomes stable14,15.

C A S E R E P O R T

A 19-year-old primipara was referred to our center fora routine scan at 33 + 4 weeks’ gestation. Ultrasoundexamination was performed using an ATL 3000 HDI(Philips Medical Systems, Eindhoven, The Netherlands)with a 3.5-MHz transabdominal probe.

A visible, small stomach bubble measuring 18 mm wasdetected in the fetal abdomen (Figure 1). Visualization of the esophageal region showed dilatation of the esophaguswith a tapering distal part (Figure 2). Direct visualizationof filling and emptying of the proximal esophagussuggested an obstruction. A cystic pouch in the region of the esophagus was seen to be full and empty in accordancewith fetal swallowing. No other fetal anomalies weredetected and fetal biometric measurements were on the10th percentile.

AF volume was increased (amniotic fluid index (AFI) =316), and polyhydramnios was diagnosed. Esophageal

atresia type I was suspected (Ladd’s classification16

).The patient refused cordocentesis for determination of fetal karyotype. Second-trimester biochemical screeningfor chromosomal anomalies performed at week 16 hadbeen negative. No therapy was given and the pregnancycontinued until week 37 when a female infant (2200 g,

Figure 1 Ultrasound examination at 34 weeks’ gestation.Transverse view demonstrates the presence of a small stomach.

Figure 2 Ultrasound examination at 34 weeks’ gestation. Sagittalview shows the dilated esophagus with a tapering distal part(pouch sign).

Apgar scores 5 and 7 at 1 and 5 min, respectively) wasdelivered following spontaneous onset of labor. Afterbirth type I atresia (isolated esophageal atresia withoutfistula) was confirmed radiographically. Bougienage wasused for 8 weeks, and esophageal anastomosis wassuccessfully carried out when the infant was 11 monthsold. No cardiovascular, urogenital, or skeletal anomalieswere found. The child is now 2 years old and in excellent

health.

DISCUSSION

The present case of esophageal atresia had the followingcharacteristics: it was (1) not associated with TEF,(2) was not associated with other malformations, and(3) polyhydramnios was detected. Also in this case theprenatal diagnosis of esophageal atresia was suggestedby ultrasonographic evidence of a small stomach bubbleand polyhydramnios17–19. However, these criteria arenot definitive, the maximum probability of a correctdiagnosis being as low as 42%20. This is relatedto the following facts: (1) esophageal atresia in most(90%) cases is accompanied by distal TEF, so that AFoccasionally reaches the stomach; (2) in the rare caseswithout TEF (10%), visualization of the stomach may bepossible, owing to the presence of gastric secretion; and(3) polyhydramnios rarely develops before 24 weeks of gestation. Moreover, when the diagnosis of esophagealatresia is based on polyhydramnios and non-detection of the fetal stomach, confirmation is not possible until birth.The differential diagnosis of esophageal atresia includesother conditions that adversely affect fetal swallowingsuch as nervous system anomalies, facial anomalies, and

herniated diaphragm21.The visualization of the proximally dilated esophagus

has been proposed as a direct sign of esophageal atresia,

Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2003; 21: 494–497.



496 Centini et al.

but few cases have been documented in the literature.Eyheremendy and Pfister22 were the first to identify theupper neck pouch sign. A retrospective study of ten babieswith esophageal atresia showed that transient upper neckpouch was observed in all cases. Although onset hasbeen observed as early as 23 weeks by Shulman et al .13

and 26 weeks by Kalache et al .23, several reports describelater visualization of the pouch sign, which seems to bea late sign. It has been hypothesized that in the first andearly mid-trimesters of pregnancy, the fetus is unable todevelop sufficient pressure in swallowing to dilate a blindesophagus. Moreover, the fetus may not swallow duringthe period of ultrasound examination, necessitating along examination period (at least 20 –30 min) performedat repeated short time intervals, as well as multipleultrasonographic sections for more thorough evaluationof the neck and chest regions. The type of malformations,the size, as well as the location, of the fistula could alsoaffect the time of the appearance, since a malformation

with a large fistula will empty more rapidly than onewith a narrow fistula, compromising the presence of thepouch sign.

Pretorius et al .24 in a retrospective review reportedthat only 7/22 infants born with TEF had bothpolyhydramnios and no visible stomach. In a furtherseven pregnancies, polyhydramnios and a fetal stomachwere both detected sonographically. None of these womendeveloped polyhydramnios before week 24 and 12/22infants had other anomalies.

In the rare case of esophageal atresia with proximalTEF, AF probably enters the trachea without dilating the

esophagus, and the upper esophagus remains collapsedand is not detected by ultrasound. In the latter half of gestation, the fetus excretes a large volume of urine intothe AF and swallows a large volume of AF each day25.Hence polyhydramnios could be expected to develop if swallowing does not occur but not always develops withesophageal atresia or obstruction. In monkeys, surgicalligation of the fetal esophagus is followed by transientpolyhydramnios with AF volume returning to normalover a period of several days26; absorption of water andsolutes is doubled by esophageal ligation. What mediatesthis large increase in the ability of the intramembranouspathway to absorb water and solutes is still unclear. Infetal sheep, the ligation or obstruction of the esophagusis followed by increased AF volume after 1–3 days, andnormal AF volume at 5 days and 2–3 weeks27. Ovinefetal urinary output remains normal during esophagealobstruction/occlusion. The combined volume of fluidfrom the fetal kidneys and lungs would be approximately1000 mL/day, which has to be absorbed by the amnioticcompartment if the AF volume is to remain within normallimits when swallowing does not occur.

We are aware that the upper neck pouch sign may bea delayed manifestation, only occurring in certain typesof esophageal atresia. However, when it is observed, it is

of fundamental importance as it confirms the diagnosisand is a signal for a careful search for associated anoma-lies. In the presence of esophageal atresia combined with

TEF 7% of the fetuses will have aneuploidy; and in casesof pure esophageal atresia 20–25%, the most likely onebeing trisomy 18. Esophageal atresia is often associatedwith other malformations: gastrointestinal (21%), car-diovascular (20%), urogenital (10%), and skeletal (20%).Cardiac and vertebral anomalies may be seen as part of theVATER association28–30. Karyotyping should be consid-ered, particularly in cases in which associated anomaliesare detected. Thorough examination of the fetal neckregion in different planes may be an important diagnosticstep in all cases of prenatally suspected esophageal atre-sia. Prenatal diagnosis enables parents to be prepared forthe birth and treatment of their affected child, permitsprompt neonatal management, thereby avoiding poten-tially hazardous delays in diagnosis, and leads to earlieridentification of associated anomalies.

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