First‐trimester diagnosis of imperforate anus

Taipale, Pekka; Rovamo, Liisa; Hiilesmaa, Vilho

doi:10.1002/uog.1832

Cited by 46 publications

(33 citation statements)

References 10 publications

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“…Enterolithiasis is a rare prenatal ultrasound finding and raises the possibility of an urodigestive fistula, although the fistula cannot be demonstrated antenatally (2,4). Intraluminal calcifications of the rectum have been reported as a mark of imperforate anus (2,(4)(5)(6)(7)(8). But in our case, enterolithiasis were detected at the second trimester of gestation in both lower and upper bowel loops.…”

Section: Discussioncontrasting

confidence: 64%

Second trimester diagnosis of imperforate anus

Mhabrech

Zrig

Ksiaa

et al. 2015

The Egyptian Journal of Radiology and Nuclear Medicine

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Imperforate anus or anorectal atresia is often associated with major fetal structural defects but it may also be an isolated abnormality. Prenatal diagnosis is difficult but may be assisted by ultrasound detection of enterolithiasis in dilated bowel and confirmed by MRI study. We report a case of imperforate anus in which enterolithiasis with dilated bowel was detected by ultrasound examination at 25 weeks of gestation and confirmed by MRI examination. At birth, the newborn was diagnosed to have a low type of imperforate anus.A 26-year-old woman gravida 2 para 2 presented to the ultrasound unit at 25 weeks of spontaneous gestation for routine screening. Ultrasound examination using Esaoti (MyLabSIX) machine equipped with 7-10-MHz probes, revealed dilated bowel with intraluminal circular hyperechogenic structures associated with single umbilical artery. No other malformation could be depicted on ultrasound study. Follow-up ultrasound examinations at 28 weeks gestation showed progressive dilatation of bowel and persistence of intraluminal echogenic foci (Fig. 1). MRI examination, was performed on GE 1.5 Tesla superconducting magnet. Axial T1 W images are obtained using 256 · 160 matrix, 48 cm field of view (FOV), 4 mm slice thickness, 2 mm interslice gap, and 1 number of excitation (NEX). High-resolution T2 W images of pelvis are acquired in axial, sagittal, and coronal planes using 256 · 256 matrix, 48 cm FOV, 4 mm slice thickness, 0.4 mm interslice gap, and 0.53 NEX.MRI confirmed at 32 weeks of gestation dilated bowel loops and detected rectal obstruction. The rectal cul-de-sac was located at a level lower than the level of the bladder neck, confirming low anorectal malformation (Fig. 2a) with abnormal and heterogeneous fluid signal on T1 and T2 weighted images: the usual hyperintensity on T1 and hypointensity on T2 of meconium was not identified (Fig. 2b). The urinary bladder was normal. A 3150 g male was born spontaneously at 35 weeks of gestation, with Apgar score (healthy infant score) of 8/9. Esophageal continuity had been confirmed by passing 8 cm red rubber catheter into the stomach. Physical examination revealed an absence of an anal opening and a massively distended abdomen. The abdominal radiograph demonstrated a cluster of multiple calcified shadows, cardiomegaly, and left side pneumothorax associated with right pulmonary hypoplasia (Fig. 3). Abdominal ultrasound confirmed the dilated small and large bowels. Echocardiography done after Abbreviation: ARM, anorectal malformation

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Section: Discussioncontrasting

confidence: 64%

Second trimester diagnosis of imperforate anus

Mhabrech

Zrig

Ksiaa

et al. 2015

The Egyptian Journal of Radiology and Nuclear Medicine

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“…These authors suggested that the detection of bowel dilatation in cases of anal atresia is related to gestational age and is more likely to be present beyond 27 weeks [9] . However, very recently, Taipale et al [11] detected dilatation of the colon in a fetus with imperforate anus at 12 weeks of gestation. This dilatation was diffi cult to identify during the second trimester of pregnancy, but it was clearly demonstrated in the third trimester.…”

Section: Discussionmentioning

confidence: 99%

Fetal Anal Atresia Presenting as Transient Bowel Dilatation at 16 Weeks of Gestation

Kaponis

Paschopoulos²,

Paraskevaidis³

et al. 2006

Fetal Diagn Ther

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Congenital anal atresia is a rare abnormality which in two thirds of the cases is associated with other congenital abnormalities or syndromes. Prenatal diagnosis is usually achieved in cases with coexisting abnormalities. The diagnosis of isolated anal atresia is extremely difficult and can be suspected in the presence of colon dilatation. We present the case of a fetus in which marked dilatation of the colon was diagnosed at 16 weeks of gestation. Four weeks later the sonographic appearance of the bowel was normal and remained normal for the rest of the pregnancy. Anal atresia was diagnosed immediately after birth and corrected surgically. No other abnormalities were present. This case report illustrates that in anal atresia, bowel dilatation may be only transient.

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“…Colonic dilation may be seen in Hirschsprung disease or other neurointestinal dysplasia, small left colon syndrome, meconial diseases, congenital rectal stenosis, incomplete rectal atresia, congenital pouch colon (CPC), splenic flexure stenosis and necrotising enterocolitis, etc 1. However, imaging findings may be confusing due to rare anatomical abnormalities especially in the neonatal period 2. Our case was a 2-month-old infant with a lifetime history of abdominal distention and severe constipation, who was referred to the paediatric surgery ward, suspected of having gastrointestinal perforation during a diagnostic contrast enema (figure 1).…”

Section: Descriptionmentioning

confidence: 99%