Case 16737

Duodenal atresia in a fetus with

trisomy 21
Published on 27.04.2020

ISSN: 1563-4086
Section: Genital (female) imaging
Area of Interest: Foetal imaging Gastrointestinal tract
Obstetrics (Pregnancy / birth / postnatal period)
Imaging Technique: Ultrasound
Special Focus: Obstetrics Case Type: Clinical Cases
Authors: Vesna Gall1, Ana Meyra Potkonjak1, Neven
Tu?kar1
Patient: 31 years, female

Clinical History:

A 33-year-old primiparous woman was referred with polyhydramnios at 37 weeks + 1 day gestation. The patient felt
fetal movements normally and denied contractions or leakage of amniotic fluid. The pregnancy was poorly
controlled, complicated by the Rh-immunisation. The patient is a former heroin addict with chronic hepatitis C
infection (genotype 1A).

Imaging Findings:

Fetal ultrasound scan showed normal fetal heart action with biometry measures indicating fetal intrauterine growth
restriction; estimated fetal weight (EFW) less than the 10th percentile for gestational age, paired with high level of
amniotic fluid (AFI 28). Fetal abdominal scan revealed dilated stomach and duodenum, which was measuring 3 cm
in diameter, representing "double-bubble" sign. The diaphragm was intact, the bladder was dilated.
Fetal echocardiography showed partial AV canal.

Discussion:

Duodenal atresia (DA) is a complete obstruction of the duodenal lumen caused by the lack of recanalisation of
occluded embryonic gut during eight to ten weeks of gestation [1]. Reported incidence is 0.9 infants per 10000
births. The disease affects boys more frequently than girls. This type of defect represents up to 60% of all cases of
intestinal atresia. The defect is often accompanied with other organ involvement and can be a marker of
chromosomal anomalies [2].

The sensitivity of ultrasound in the prenatal diagnosis of bowel obstruction is 50%. The probability of detection
depends on the anatomic level of bowel obstruction, with proximal obstructions tending to be more frequently
diagnosed [3]. The anomaly is often detected after the first trimester of pregnancy. Diagnosis is often preceded by
identifying polyhydramnios, which is present in 50% of cases.

Characteristic ultrasound finding suggestive for DA is a dilation of the stomach and the first part of the duodenum,
described as "double-bubble" sign. According to the literature, the presence of double bubble is highly associated
with duodenal atresia [4]. Since duodenal atresia implies complete obstruction of the small intestine, no air should
be seen distal to the obstruction site. The appearance of two dilated adjacent structures in duodenal atresia is
explained by the presence of an alternative route in cases of bi?d common bile duct [5, 6].
This type of defect can be an isolated finding in fetuses with normal karyotype, whereas 30% of children with
duodenal atresia have trisomy 21. Presence of DA can also be related to VACTERL association [7].

Reported findings in our case suggested trisomy 21, which was later confirmed by a genetic assessment. Our
patient gave birth to a female child. Duodenal atresia more commonly affects males. In the present case, the finding
of proximal duodenum could easily be mistaken for ovarian cyst. Additional causes are duodenal stenosis, duodenal
webs, annular pancreas, midgut volvulus, preduodenal position of portal vein [5,6].

Beside the duodenal atresia, additional features in this case were partial AV canal and intrauterine growth restriction
which could both be a manifestation of trisomy 21. Potential cause of intrauterine growth restriction in our case could
be polysubstance abuse by the mother.

Once the DA is suspected, heart defects, urinary tract, spine, and limb abnormalities should be ruled out.
Furthermore, other gastrointestinal anomalies such as intestinal stenosis, atresia, malrotation or annular pancreas
should be investigated [7]. As soon as the diagnosis is made, the appropriate treatment including surgical repair
after the birth can be timely initiated.

Written informed patient consent for publication has been obtained.

Differential Diagnosis List: Duodenal atresia, Ovarian cyst, Annular pancreas, Midgut volvulus, Preduodenal
position of portal vein

Final Diagnosis: Duodenal atresia

References:

Miscia ME, Lauriti G, Chiesa PL, Zani A (2019) Duodenal atresia and associated intestinal atresia: a cohort study
and review of the literature. Pediatr Surg Int 35.1: 151-157 (PMID: 30386906)
Best KE, Tennant PW, Addor MC, et al (2012) Epidemiology of small intestinal atresia in Europe: a register-based
study. Arch Dis Child Fetal Neonatal Ed 97:F353 (PMID: 22933095 )
Haeusler MC, Berghold A, Stoll C, et al (2002) Prenatal ultrasonographic detection of gastrointestinal obstruction:
Results from 18 European congenital anomaly registries. Prenat Diagn 22:616 (PMID: 12124699)
Bishop JC., McCormick B, Johnson CT et al (2019) The Double Bubble Sign: Duodenal Atresia and Associated
Genetic Etiologies. Fetal Diagn Ther 1-6 (PMID: 31167209 )
Traubici J (2001) The Double Bubble Sign. Radiology. 220(2): 463-464
Kassner EG, Sulton A, DeGroot T (1972) Bile duct anomalies associated with duodenal atresia: paradoxical
presence of small bowel gas. AJR Am J Roentgenol 116:577–583
Choudhry MS, Rahman N, Boyd P et al (2009) Duodenal atresia: associated anomalies, prenatal diagnosis and
outcome. Pediatr Surg Int 25:727–730 (PMID: 19551391)
Figure 1
a

Description: Double bubble sign on a transverse view of fetal abdomen Origin: Department of
Obstetrics and Gynecology , University Hospital Center Sestre milosrdnice, Zagreb, Croatia, 2019
Figure 2
a

Description: Sagittal view of fetal trunk showing dilatation of stomach and duodenum Origin:
Department of Obstetrics and Gynecology , University Hospital Center Sestre milosrdnice, Zagreb,
Croatia, 2019
Figure 3
a

Description: Abdominal X-ray in newborn with duodenal atresia Origin: Department of Paediatrics ,
University Hospital Center Sestre milosrdnice, Zagreb, Croatia, 2019