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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 for a 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 region of the esophagus was observed to be full and empty in accordance with fetal swallowing. No other fetal anomalies were detected. Fetal biometric measurements were on the 10th percentile and polyhydramnios was detected. 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 a female 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 a delayed 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.
Esophageal atresia is characterized by the absence of a segment of the esophagus and in most cases it is associated with a ﬁstula between the gastrointestinal and the respiratory tracts. Normal division of the foregut into trachea and esophagus occurs in the fourth week of gestation. The esophagus and trachea develop from a common diverticulum of the primitive pharyngeal cavity. The diverticulum subsequently partitioned by the tracheoesophageal septum forms the laryngotracheal
tube and the esophagus. The development of the upper respiratory and gastrointestinal tracts takes place between day 21 and week 5 of gestation. In view of their common embryonic origin, it is not surprising that anomalies of the trachea and esophagus are often associated1 . Any interruption of embryonic septation results in an esophageal atresia and tracheoesophageal ﬁstula (TEF). Generally these abnormalities occur together and only occasionally separately: the most common form is esophageal atresia with distal TEF (87%). Isolated esophageal atresia and isolated TEF occur in 8% and 5% of cases, respectively. The overall incidence is 1 in 3000 births2 . The etiology of this condition is unknown; there is no demonstrable genetic predisposition, and occurrence seems to be sporadic3 . There is no established sex preponderance. Chromosomal, gastrointestinal, and urogenital 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: associated congenital malformations, respiratory complications, birth weight, and gestational age at delivery. The prenatal detection of esophageal atresia is possible and is based on the ultrasonographic ﬁndings of a small 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 pouch corresponding to the atretic segment of the esophagus has been proposed as the most reliable sign of esophageal atresia. The use of the pouch sign can increase the positive predictive value of ultrasonography, and recently has 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). The exact location of the pouch seems to be important in providing the prognosis of esophageal atresia, as the presence of a mediastinal pouch has been found to have a better 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, 53100 Siena, Italy (e-mail: email@example.com) Accepted: 18 December 2002
Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.
permits prompt neonatal management. and herniated diaphragm21 . No other fetal anomalies were detected and fetal biometric measurements were on the 10th percentile. small stomach bubble measuring 18 mm was detected in the fetal abdomen (Figure 1). Visualization of the esophageal region showed dilatation of the esophagus with a tapering distal part (Figure 2). After birth type I atresia (isolated esophageal atresia without ﬁstula) was conﬁrmed radiographically. (2) in the rare cases without TEF (10%). or skeletal anomalies were found. This is related to the following facts: (1) esophageal atresia in most (90%) cases is accompanied by distal TEF. 495 CASE REPORT A 19-year-old primipara was referred to our center for a routine scan at 33 + 4 weeks’ gestation. AF volume was increased (amniotic ﬂuid index (AFI) = 316). Early diagnosis is also important to avoid complications of aspiration and chemical pneumonia. (2) was not associated with other malformations. thereby avoiding potentially hazardous delays in diagnosis. Prenatal diagnosis enables parents to be prepared for the birth and treatment of their affected child. Esophageal atresia type I was suspected (Ladd’s classiﬁcation16 ). The child is now 2 years old and in excellent health. A visible. Ultrasound examination was performed using an ATL 3000 HDI (Philips Medical Systems. these criteria are not deﬁnitive. The differential diagnosis of esophageal atresia includes other conditions that adversely affect fetal swallowing such as nervous system anomalies. Copyright 2003 ISUOG. Surgical repair is normally undertaken when the infant’s condition becomes stable14. Early management requires gastrostomy and continuous suction of the blind upper pouch. Direct visualization of ﬁlling and emptying of the proximal esophagus suggested an obstruction. conﬁrmation is not possible until birth. . Sagittal view shows the dilated esophagus with a tapering distal part (pouch sign). urogenital. No therapy was given and the pregnancy continued until week 37 when a female infant (2200 g.13 . the maximum probability of a correct diagnosis being as low as 42%20 . Ultrasound Obstet Gynecol 2003. Also in this case the prenatal diagnosis of esophageal atresia was suggested by ultrasonographic evidence of a small stomach bubble and polyhydramnios17 – 19 . and polyhydramnios was diagnosed. when the diagnosis of esophageal atresia is based on polyhydramnios and non-detection of the fetal stomach. Figure 2 Ultrasound examination at 34 weeks’ gestation. 21: 494–497. and leads to earlier identiﬁcation of associated anomalies. Ltd. However. respectively) was delivered following spontaneous onset of labor. Second-trimester biochemical screening for chromosomal anomalies performed at week 16 had been negative. so that AF occasionally reaches the stomach. Bougienage was used for 8 weeks.15 . A cystic pouch in the region of the esophagus was seen to be full and empty in accordance with fetal swallowing. visualization of the stomach may be possible. No cardiovascular. and (3) polyhydramnios was detected.Prenatal diagnosis of esophageal atresia and require only a one-stage operation12. and esophageal anastomosis was successfully carried out when the infant was 11 months old. The visualization of the proximally dilated esophagus has been proposed as a direct sign of esophageal atresia. The Netherlands) with a 3. DISCUSSION The present case of esophageal atresia had the following characteristics: it was (1) not associated with TEF. Apgar scores 5 and 7 at 1 and 5 min. Figure 1 Ultrasound examination at 34 weeks’ gestation. The patient refused cordocentesis for determination of fetal karyotype.5-MHz transabdominal probe. facial anomalies. Moreover. Published by John Wiley & Sons. and (3) polyhydramnios rarely develops before 24 weeks of gestation. owing to the presence of gastric secretion. Transverse view demonstrates the presence of a small stomach. Eindhoven.
particularly in cases in which associated anomalies are detected. Copyright 2003 ISUOG. compromising the presence of the pouch sign. Lindahl H. Br J Radiol 1991. Beasley SW. 15. Obstet Gynecol 1982. cardiovascular (20%). J Pediatr Surg 1989. Am J Obstet Gynecol 2000. the size. the fetus is unable to develop sufﬁcient pressure in swallowing to dilate a blind esophagus. Wesson D. . Cardiac and vertebral anomalies may be seen as part of the VATER association28 – 30 . 8. Esophageal atresia with distal tracheoesophageal ﬁstula: associated anomalies and prognosis in the 1980s. Arch Dis Child 1993. Achiron R. 13. Prognostic signiﬁcance of nonvisualization of the fetal stomach by sonography. In Oesophageal Atresia. 7: 102–115. J Ultrasound Med 1993. Prenat Diagn 2002. AJR Am J Roentgenol 1988. when it is observed. Harman C. 69: 21. which seems to be a late sign. and leads to earlier identiﬁcation of associated anomalies. A retrospective study of ten babies with esophageal atresia showed that transient upper neck pouch was observed in all cases. Gauderer M. Anderson N. and the upper esophagus remains collapsed and is not detected by ultrasound. 68: 743–748. Sonographic evaluation of the fetal stomach: signiﬁcance of non visualization. Pretorius D. the fetus excretes a large volume of urine into the AF and swallows a large volume of AF each day25 . 184: 978–981. Mau H. 151: 987–989.13 and 26 weeks by Kalache et al. 12. J Pediatr Surg 1983. Goldstein R. as well as multiple ultrasonographic sections for more thorough evaluation of the neck and chest regions. Kalache KD. Snijders R. Am J Obstet Gynecol 1984. the fetus may not swallow during the period of ultrasound examination. Zalel Y. the most likely one being trisomy 18. Avigad I. Eyheremendy and Pﬁster22 were the ﬁrst to identify the upper neck pouch sign. 22: 669–674. 24: 1055–1059. it is of fundamental importance as it conﬁrms the diagnosis and is a signal for a careful search for associated anomalies. Ovine fetal urinary output remains normal during esophageal obstruction/occlusion. The type of malformations. Oesophageal atresia and other disorders with a similar antenatal presentation. Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities. thereby avoiding potentially hazardous delays in diagnosis. Cheng H. Kuint J. Louhimo I. 7. AJR Am J Roentgenol 1993. In the latter half of gestation. urogenital (10%). Lechat M. Myers N. It has been hypothesized that in the ﬁrst and early mid-trimesters of pregnancy. 11. Chaoui R. In the rare case of esophageal atresia with proximal TEF. Ein S. Depaepe A. The antenatal diagnosis of esophageal atresia by ultrasound. 12: 11–15. 14. Obstet Gynecol 1987. Havard A. of the ﬁstula could also affect the time of the appearance. Clautice-Engle T. 10.24 in a retrospective review reported that only 7/22 infants born with TEF had both polyhydramnios and no visible stomach. Shandling B. None of these women developed polyhydramnios before week 24 and 12/22 infants had other anomalies. 59: 33. 18: 217–229. the ligation or obstruction of the esophagus is followed by increased AF volume after 1–3 days. Morrison I. Polyhydramnios: ultrasonographically detected prevalence and neonatal outcome. and normal AF volume at 5 days and 2–3 weeks27 . In a further seven pregnancies. Shulman A. AF probably enters the trachea without dilating the esophagus. Filly R. Oesophageal atresia without ﬁstula. Breckle R. In monkeys. Frequency of fetal anomalies in sonographically detected polyhydramnios. 150: 250–254. Chamberlain P. and in cases of pure esophageal atresia 20–25%. Millener P. Prenatal diagnosis enables parents to be prepared for the birth and treatment of their affected child. In fetal sheep. However. as well as the location. Lange I. A perinatal approach to the diagnosis and management of gastrointestinal malformations. Fetal Diagn Ther 1992. Auldist A (eds). Hill L. Fries J. Chapter 10. 64: 557–558. London: Chapman & Hall Medical. The relationship of increased amniotic ﬂuid volume to perinatal outcome. Bollman R. permits prompt neonatal management. several reports describe later visualization of the pouch sign. 1991.496 Centini et al. Dolk H. Karyotyping should be considered. TEF 7% of the fetuses will have aneuploidy. 5. 2. MacDonald L. Moreover. Prenatal identiﬁcation of esophageal atresia: the role of ultrasonography for evaluation of functional anatomy. 21: 494–497. 53: 1202–1203. necessitating a long examination period (at least 20–30 min) performed at repeated short time intervals. Thorough examination of the fetal neck region in different planes may be an important diagnostic step in all cases of prenatally suspected esophageal atresia. Farrant P. Nicolaides K. which has to be absorbed by the amniotic compartment if the AF volume is to remain within normal limits when swallowing does not occur. Wauer R. 9. since a malformation with a large ﬁstula will empty more rapidly than one with a narrow ﬁstula. 6. Esophageal atresia: primary results of 500 consecutively treated patients. Ultrasound evaluation of amniotic ﬂuid volume. Gosink B. What mediates this large increase in the ability of the intramembranous pathway to absorb water and solutes is still unclear. Although onset has been observed as early as 23 weeks by Shulman et al. 160: 827–830. Mazkereth R. 4. 3. The epidemiology of tracheooesophageal ﬁstula and oesophageal atresia in Europe. Manning F. surgical ligation of the fetal esophagus is followed by transient polyhydramnios with AF volume returning to normal over a period of several days26 . Thomas M. and skeletal (20%). In the presence of esophageal atresia combined with REFERENCES 1. but few cases have been documented in the literature. Pretorius et al. We are aware that the upper neck pouch sign may be a delayed manifestation. absorption of water and solutes is doubled by esophageal ligation. Br J Radiol 1980. Esophageal atresia is often associated with other malformations: gastrointestinal (21%). Beasley S. 137–159. Chisholm R. Ultrasound Obstet Gynecol 2003. Published by John Wiley & Sons. Ltd. only occurring in certain types of esophageal atresia. Jassani M.23 . The combined volume of ﬂuid from the fetal kidneys and lungs would be approximately 1000 mL/day. Damato N. Prognostic signiﬁcance of the pouch sign in fetuses with prenatally diagnosed esophageal atresia. Faranoff A. Lipitz S. 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