PRENATAL DIAGNOSISPrenat Diagn 2011; 31: 1010–1012.Published online 11 July 2011 in Wiley Online Library(wileyonlinelibrary.com) DOI: 10.1002/pd.2821

RESEARCH LETTER

Congenital microgastria: a rare cause of failure to visualisethe fetal stomach

P. Shepherd1, N. Smeulders2, A. H. L. Coleman1 and L. S. Chitty1,3*1University College London Hospitals, NHS Foundation Trust, London, UK2Great Ormond Street Hospital, London, UK3Institute of Child Health, University College Hospital, London, UK

KEY WORDS: Fetal ultrasound; congenital microgastria; absent fetal stomach bubble; prenatal diagnosis

Failure to visualise the fetal stomach on prenatalultrasound has several aetiologies. Here we report acase of congenital microgastria, which, although rare,should be considered in the differential diagnosis of non-visualisation of the fetal stomach.

A 29-year-old primigravida of Bangladeshi origin wasreferred to the Fetal Medicine Unit because the fetalstomach could not be visualised on her routine 20-weekanomaly scan. She had no relevant previous medical orfamily history, and there was no consanguinity. Theabsence of the stomach bubble was confirmed andno other abnormalities detected. Serial scans at 23,30, and 33 weeks demonstrated normal fetal growthand liquor volume but a persistently absent stomach.Karyotyping was normal (46, XX). A female infantwas born by spontaneous vaginal delivery at 38 weeksweighing 3.27 kg. A contrast study showed congenitalmicrogastria sited in the thorax (Figure 1). No otheranomalies were apparent. Oral feeding was established.During early childhood, a regime of small frequentmeals achieved growth along the ninth percentile forweight and second percentile for height. Iron deficiencyanaemia has been managed with iron supplementation.Intermittent oesophagitis has required treatment withproton-pump inhibitors. Gastric emptying is normal. Thegirl is now aged 9 years, is developing normally, and isthriving on a normal diet. A second pregnancy resultedin the birth of female infant with a normal stomach andno other abnormalities.

A 12-week dating scan in her third pregnancy identi-fied no abnormalities. However, at the 20-week anomalyscan, the stomach was not seen throughout 20 min ofscanning. Repeat scanning failed to demonstrate thepresence of an intra-abdominal stomach (Figure 1a); noother abnormalities were found, and the liquor volumewas normal. A recurrence of congenital microgastria wassuspected. Findings remained unchanged on subsequentscans at 26, 30, 34, and 37 weeks. A fetal cardiac scanwas normal. A male infant, weighing 3.49 kg, was born

*Correspondence to: L. S. Chitty, Clinical and Molecular Genet-ics Unit, Institute of Child Health, 30, Guilford Street, LondonWC1N 1EH, UK. E-mail: l.chitty@ich.ucl.ac.uk

by spontaneous vaginal delivery at 41 weeks. A contraststudy confirmed congenital microgastria sited across thehiatus (Figure 1b). With frequent small meals, he hasachieved growth around the ninth percentile. He is nowaged 5 years, is developing normally but requires ironsupplementation for iron deficiency anaemia.

Congenital microgastria is a very rare anomaly. Justmore than 60 cases have previously been reported inthe literature (Jones and Cohen, 2007), and these areusually in association with other anomalies includingskeletal, gastrointestinal, renal, and cardiac anomaliesand commonly asplenia. Only four cases of isolated con-genital microgastria have been reported before (Gormanand Shaw, 1984; Hill, 1994; Ramos et al., 1996; Menonet al., 2003). Here, we report the first recurrence of iso-lated microgastria within a family, and this is only thesecond family diagnosed on prenatal ultrasound (Hill,1994).

Children with congenital microgastria typicallypresent with a long history of failure to thrive or severegastro-oesophageal reflux. However, in our cases, non-visualisation of the fetal stomach on prenatal ultrasoundenabled early postnatal diagnosis and management.

On contrast study, the abnormally small stomachis usually sited in the midline and tubular in shape(Figure 1b). The gastro-oesophageal sphincter is incom-petent, producing gastro-oesophageal reflux. Indeed, theeldest of the siblings reported here has required treat-ment for intermittent oesophagitis. While the gastricmucosa is normal, the relatively small stomach resultsin low amounts of acid secretion in patients with con-genital microgastria (Ramos et al., 1996. This could bethe cause of the iron deficiency anaemia observed in ourpatients.

The stomach arises from an elongation in foregut dur-ing the fourth week of development (Schoenwolf et al.,2009). From the fifth week, the posterior wall of thiselongation grows faster than the anterior wall, formingthe greater and lesser curves of the stomach (Schoenwolfet al., 2009). An arrest during this early developmentis thought to result in the abnormal stomach found incongenital microgastria.

Copyright 2011 John Wiley & Sons, Ltd. Received: 14 December 2010Revised: 24 May 2011Accepted: 6 June 2011

Published online: 11 July 2011

SONOGRAPHIC DIAGNOSIS OF MICROGASTRIA 1011

(a) (b)

Figure 1—(a) Ultrasound image of the transverse view through the fetal abdomen at the level of the umbilical vein demonstrating absence ofany stomach bubble. (b) the antero-posterior (AP) view during an upper gastrointestinal contrast study of sibling 2 shows the abnormally smallstomach in the midline sitting across the diaphragmatic hiatus

Table 1—The differential diagnosis of a sonographically absent stomach bubble and aids to prenatal diagnosis

Condition GI findingsOther potential

sonographic findingsOther aids to

diagnosis

Congenitalmicrogastria

Absent stomach bubble Normal liquor volume, no otherabnormalities

Family history,consanguinity

Isolated oesophagealatresia

Absent stomach bubble Marked polyhydramnios Nil

VACTERL Absent stomach bubble Vertebral anomalies, radial cardiacand renal lesions

Nil

Pena–Shokeirsequence

Absent stomach bubble Scalp oedema, pulmonary hypoplasia,polyhydramnios, contractures, CNSlesions

Family history,consanguinity

Trisomy 18 Absent stomach bubble Cardiac anomalies, choroids plexuscysts, increased nuchal fold,polyhydramnios, prominent occiput,micrognathia, clenched hand, shortsternum

Fetal karyotyping

CHARGE Absent stomach bubble Cardiac, genitourinary and earanomalies

Mutations involvingCDH7

Apple peel congenitalintestinal atresia

Absent stomach bubble Polyhydramnios Family history,consanguinity

Treacher–Collinssyndrome

Absent stomach bubble Facial anomalies: mid-facehypoplasia, micrognathia, abnormalprofile, low-set ears, polyhydramnios

Family history:autosomal dominant,mutations involvingTCOF1

GI, gastrointestinal; CNS, central nervous system.

The identical anomaly found in our siblings raisesthe possibility of a genetic aetiology. A 22q11.2chromosome deletion has previously been reportedin one newborn with congenital microgastria (Fil-ippi et al., 2008). However, chromosomal analysis inour cases and another case reported in the literaturewas negative for this deletion on fluorescence in situhybridization, and this link may therefore be coinci-dence.

The stomach can be visualised using fetal ultrasoundas early as the ninth week of development (Goldsteinet al., 1987) and is easily visible by 14 weeks. Persistentnon-visualisation at the 20-week anomaly scan requiresinvestigation, as the outcome of these pregnancies is

abnormal in 48–85% of cases (Brumfield et al., 1998).While the classic anomaly associated with this ultra-sound finding is oesophageal atresia, with or withouttracheo-oesophageal fistula, many other abnormalitieshave been described (Houben and Curry, 2008) (Table 1)but isolated microgastria, albeit very rare, should be con-sidered in the differential diagnosis. One differentiatingfactor may be that in most cases of ‘absent’ stomach,the stomach is actually present but completely collapsed,and the collapsed walls can often be seen, whereas inthe case we report here, the stomach is truly absent fromthe correct position.

Copyright 2011 John Wiley & Sons, Ltd. Prenat Diagn 2011; 31: 1010–1012.DOI: 10.1002/pd

1012 P. SHEPHERD et al.

ACKNOWLEDGEMENTS

L. S. C. receives some funding from the UCLH Biomed-ical Centre, the NIHR, and the Great Ormond StreetHospital Children’s Charity.

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Copyright 2011 John Wiley & Sons, Ltd. Prenat Diagn 2011; 31: 1010–1012.DOI: 10.1002/pd