Duodenal Obstruction

Duodenal obstruction (DO) is a congenital abnormality which occurs in 1,3 per 10,000 live births and is the small-bowel obstruction most commonly detected during fetal life. Approximately half of the cases are associated with other abnormalities (non-isolated DO), commonly cardiac, vertebral, renal and gastrointestinal such as anal atresia and trachea-esophageal atresia. DO is found in 30% of fetuses with trisomy 21. In the presence of associated or chromosome anomalies, the risk of intrauterine and neonatal death is increased compared to a healthy population. The prognosis after surgery is good, irrespective of the presence of associated anomalies. For children without trisomy 21 the long-term quality of life scores are comparable to a healthy population.

ICD11- DA50.0, ICD 10-41

Duodenal obstruction refers to a congenital anomaly in which the lumen of the duodenum is obstructed.

The incidence of duodenal obstruction is 1,3 per 10,000 live births^{1, 2}

Although the etiology is not completely understood, environmental factors³ play a role in the occurrence of DO. In addition the high prevalence of trisomy 21⁴ and reports on several different genetic mutations related to DO are suggestive of a genetic association^{5, 6}.

Duodenal obstruction (DO) occurs through two different mechanisms. Intrinsic DO is presumed to result from failed canalization of the bowel lumen in the 9^th -10^th week of embryonic life⁷. This causes a membranous DO, stenosis or atresia⁸. Compression from a surrounding annular pancreas or peritoneal bands⁹ is the cause of extrinsic DO. Depending on the cause, the obstruction may therefore be complete or incomplete¹⁰.

Associated anomalies are a common occurrence in DO and are present in approximately 60% of the cases^{4, 10, 11}. This includes mainly cardiac, vertebral, renal and gastrointestinal anomalies (VACTERLS)^9-11. Between 20 to 25% of associated anomalies are only diagnosed after birth^{10, 12}. In particular, esophageal atresia, anorectal malformations and deformation of vertebrae and ribs may be overlooked during prenatal assessment. 30% of all cases are associated with trisomy 21¹³. This percentage is reduced when prenatal screening for aneuploidy in the first trimester is performed on a regular basis¹⁴.

The recurrence risk of isolated DO is very low.  When the DO is part of a genetic syndrome or trisomy 21 this risk is dependent on the recurrence risk of the underlying disease⁶.

The fetal stomach is visible on ultrasound in the left upper abdomen and can be identified as a fluid filled structure of variable size throughout gestation¹⁵. The fluid within the stomach originates from the amniotic fluid which the fetus swallows regularly. Subsequently the fluid is reabsorbed in the digestive tract¹⁶. An obstruction within the digestive tract causes reduced reabsorption capacity and accumulation of amniotic fluid prior to the obstruction. The accumulation only becomes evident when the balance between the amount swallowed and reabsorbed amniotic fluid is disrupted as pregnancy progresses. On ultrasound this is visible as a local distension of the obstructed digestive tract. Peristalsis within the dilated portions is also seen.

In duodenal obstruction, the dilated duodenum is visible adjacent to the stomach. Peristaltic movements from the stomach towards the duodenum will reveal the open connection through the pylorus. The 2 typical cystic structures in the upper abdomen of the fetus are also known as the “double-bubble” sign. With modern ultrasound equipment, the connection between the stomach and the duodenum is able to be visualized. This term was originally introduced by radiologists who identified two air bubbles in the upper abdomen of neonates with a DO¹⁷. Approximately 50% of cases are diagnosed prenatally¹⁸ and in the majority of cases the diagnosis is established in the late second or early third trimester. In the presence of associated anomalies a diagnosis as early as 12 weeks’ of gestation or as late as 2 years of age has been reported^{10, 19}. Only a minority of cases are detected during the 20 week anomaly scan. Approximately 80% of prenatal cases with duodenal obstruction are complicated by polyhydramnios^{8, 10, 20}, which is typically a third trimester finding.

In the presence of a “double-bubble” sign, proximal jejunal obstruction or volvulus should be considered^{12, 21}. (See VISUOG chapters on Jejunal-Ileal Obstruction and Bowel Torsion).

When DO is suspected, a thorough search for associated anomalies, including cardiac, vertebral, rib, renal and other gastrointestinal abnormalities should be performed. The perianal muscular sphincter complex^{22, 23}, should also be evaluated. (See VISUOG Chapter on Anal Atresia). Sonographic markers associated with an increased risk for Down syndrome (trisomy 21) can be evaluated. Regular monitoring of the amniotic fluid index is recommended.

Invasive testing with amniocentesis for karyotype/microarray as is locally available and genetic counseling should be offered. Consultation with a pediatric surgeon, neonatology and a tour of the NICU can be helpful for the parents. Monitoring the pregnancy for development of polyhydramnios is advised. Occasionally, amniotic fluid drainage may be required¹⁰. The risk of premature delivery is > 50% irrespective of the presence of associated anomalies^{8, 10}.   Management of the pregnancy and delivery should take place in a tertiary center with neonatal intensive care unit and pediatric surgery facilities.

Occasionally parents may consider a termination of pregnancy if this is a legal option, which, in many countries depends on the gestational age at which the diagnosis is established.

After birth, the baby will be admitted to the pediatric intensive care unit for evaluation and treatment. Additional imaging studies may be done to confirm the obstruction and to make sure the baby has no additional problems. When the neonate is stable, a surgeon will correct the obstruction, which is typically performed during a single surgical procedure. Most neonates are ready for discharge several weeks after delivery. 

Babies with Down Syndrome and duodenal obstruction usually need to stay longer in hospital compared to babies without a chromosomal anomalies.

The prognosis of DO is dependent on the presence of associated or chromosome anomalies. The risk of intrauterine death (IUD) in these cases  is between 12 and 18% and neonatal death has been reported up to 21%^{10, 11, 20}. One study found IUD in 18% of cases with isolated DO²⁰.

Post-operative outcome is good. Two large series^{4, 8} observed a post-operative survival rate of 98%, irrespective of the presence of associated anomalies. Long term quality of life is comparable with a healthy population. Children with DO and trisomy 21 are more likely to have a reduced overall quality of life,  but their gastrointestinal quality of life scores²⁴ are similar to those without trisomy 21.

^{1.            E. Garne, L. Rasmussen and S. Husby. Gastrointestinal malformations in Funen county, Denmark--epidemiology, associated malformations, surgery and mortality. Eur J Pediatr Surg 2002; 12: 101-106.  DOI 10.1055/s-2002-30158.}

^{2.            EUROCAT prevalence duodenal obstruction. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/prevalence_en.}

^{3.            M. J. Safra, G. P. Oakley and J. D. Erickson. Descriptive epidemiology of small-bowel atresia in metropolitan Atlanta. Teratology 1976; 14: 143-149.  DOI 10.1002/tera.1420140205.}

^{4.            G. S. Bethell, A. M. Long, M. Knight, N. J. Hall and C. Baps. Congenital duodenal obstruction in the UK: a population-based study. Arch Dis Child Fetal Neonatal Ed 2020; 105: 178-183.  DOI archdischild-2019-317085 [pii]}

^{10.1136/archdischild-2019-317085.}

^{5.            M. Rasmussen, E. M. Vestergaard, J. Graakjaer, Y. Petkov, I. Bache, C. Fagerberg, M. Kibaek, D. Svaneby, O. B. Petersen, C. Brasch-Andersen and L. Sunde. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Am J Med Genet A 2016; 170: 2934-2942.  DOI 10.1002/ajmg.a.37848.}

^{6.            J. C. Bishop, B. McCormick, C. T. Johnson, J. Miller, E. Jelin, K. Blakemore and A. C. Jelin. The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies. Fetal Diagn Ther 2020; 47: 98-103.  DOI 000500471 [pii]10.1159/000500471.}

^{7.            J. Tandler. Zur entwicklungsgeschichte des menschlichen Duodenums. Morphol Jahrb 1902; 29: 187-216.}

^{8.            J. Y. Kim, J. Y. You, K. H. Chang, S. J. Choi, S. Y. Oh, J. M. Seo, C. R. Roh and J. H. Kim. Association Between Prenatal Sonographic Findings of Duodenal Obstruction and Adverse Outcomes. J Ultrasound Med 2016; 35: 1931-1938.  DOI ultra.15.09074 [pii]10.7863/ultra.15.09074.}

^{9.            R. Shawis and B. Antao. Prenatal bowel dilatation and the subsequent postnatal management. Early Hum Dev 2006; 82: 297-303.  DOI S0378-3782(06)00065-X [pii] 10.1016/j.earlhumdev.2006.02.005.}

^{10.         T. E. Cohen-Overbeek, E. W. Grijseels, N. D. Niemeijer, W. C. Hop, J. W. Wladimiroff and D. Tibboel. Isolated or non-isolated duodenal obstruction: perinatal outcome following prenatal or postnatal diagnosis. Ultrasound Obstet Gynecol 2008; 32: 784-792.  DOI 10.1002/uog.6135.}

^{11.         M. S. Choudhry, N. Rahman, P. Boyd and K. Lakhoo. Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int 2009; 25: 727-730.  DOI 10.1007/s00383-009-2406-y.}

^{12.         A. Kucinska-Chahwan, A. Posiewka, J. Bijok, G. Jakiel and T. Roszkowski. Clinical significance of the prenatal double bubble sign - single institution experience. Prenat Diagn 2015; 35: 1093-1096.  DOI 10.1002/pd.4652.}

^{13.         G. S. Bethell, A. M. Long, M. Knight, N. J. Hall and C. Baps. The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study. Pediatr Surg Int 2020; 36: 477-483.  DOI 10.1007/s00383-020-04628-w10.1007/s00383-020-04628-w [pii].}

^{14.         B. Liu and A. Khalil. Time to update our counselling on the association of fetal structural abnormalities with aneuploidy. Ultrasound Obstet Gynecol 2019.  DOI 10.1002/uog.21934.}

^{15.         M. Sase, H. Asada, M. Okuda and H. Kato. Fetal gastric size in normal and abnormal pregnancies. Ultrasound Obstet Gynecol 2002; 19: 467-470.  DOI 695 [pii]10.1046/j.1469-0705.2002.00695.x.}

^{16.         R. J. Grand, J. B. Watkins and F. M. Torti. Development of the human gastrointestinal tract. A review. Gastroenterology 1976; 70: 790-810.}

^{17.         J. Traubici. The double bubble sign. Radiology 2001; 220: 463-464.  DOI 10.1148/radiology.220.2.r01au11463.}

^{18.         H. Kilbride, C. Castor and W. Andrews. Congenital duodenal obstruction: timing of diagnosis during the newborn period. J Perinatol 2010; 30: 197-200.  DOI jp2009143 [pii]10.1038/jp.2009.143.}

^{19.         G. L. Tsukerman, G. A. Krapiva and I. A. Kirillova. First-trimester diagnosis of duodenal stenosis associated with oesophageal atresia. Prenat Diagn 1993; 13: 371-376.  DOI 10.1002/pd.1970130509.}

^{20.         A. Brantberg, H. G. Blaas, K. A. Salvesen, S. E. Haugen, G. Mollerlokken and S. H. Eik-Nes. Fetal duodenal obstructions: increased risk of prenatal sudden death. Ultrasound Obstet Gynecol 2002; 20: 439-446.  DOI 10.1046/j.1469-0705.2002.00831.x [pii]10.1046/j.1469-0705.2002.00831.x.}

^{21.         D. L. Gilbertson-Dahdal, S. Dutta, L. J. Varich and R. A. Barth. Neonatal malrotation with midgut volvulus mimicking duodenal atresia. AJR Am J Roentgenol 2009; 192: 1269-1271.  DOI 192/5/1269 [pii]10.2214/AJR.08.2132.}

^{22.         M. H. Moon, J. Y. Cho, J. H. Kim, J. Y. Min, J. H. Yang and M. Y. Kim. In-utero development of the fetal anal sphincter. Ultrasound Obstet Gynecol 2010; 35: 556-559.  DOI 10.1002/uog.7598.}

^{23.         E. R. Guzman, A. Ranzini, D. Day-Salvatore, B. Weinberger, N. Spigland and A. Vintzileos. The prenatal ultrasonographic visualization of imperforate anus in monoamniotic twins. J Ultrasound Med 1995; 14: 547-551.  DOI 10.7863/jum.1995.14.7.547.}

^{24.         T. Vinycomb, A. Browning, M. L. M. Jones, J. M. Hutson, S. K. King and W. J. Teague. Quality of life outcomes in children born with duodenal atresia. J Pediatr Surg 2019.  DOI S0022-3468(19)30880-2 [pii]10.1016/j.jpedsurg.2019.11.017.}

Please note that the maximum upload size is 5MB, and larger images and video clips can be sent to [email protected].