Anorectal atresia: prenatal sonographic diagnosis

Harris, Robert D.; Nyberg, D A; Mack, L A; Weinberger, Edward

doi:10.2214/ajr.149.2.395

Cited by 78 publications

(56 citation statements)

References 5 publications

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“…s-a The number of anomalies required to establish the diagnosis is arbitrary, but most authors require three (or two if tracheoesophageal fistula is present). 5 Our case demonstrates three elements of the VACTERL association, as well as a single umbilical artery, a finding reported in a disproportionately high percentage of fetuses with the VACTERL association. ' A series of 12 cases of anorectal atresia reported by Harris et al includes four cases diagnosed prospectively and eight cases identified on retrospective analysis.…”

Section: •supporting

confidence: 54%

“…' A series of 12 cases of anorectal atresia reported by Harris et al includes four cases diagnosed prospectively and eight cases identified on retrospective analysis. 5 Eleven fetuses demonstrated multiple anomalies consistent with the VACTERL association or caudal regression syndrome. One fetus with multiple VACTERL anomalies demonstrated hyperechoic meconium within dilated colonic loops; this sign was present at 33 weeks of gestation.…”

Section: •mentioning

confidence: 95%

“…2 Sonographically, meconium is usually hypoechoic, although hyperechoic meconium in the third trimester has been reported. 5 Anorectal atresia is a disorder of caudal development that occurs in lj5,000 live births. 5 Anorectal atresia may be an isolated finding or may be associated with other anomalies in the VACTERL association or the caudal regression syndrome (sacral agenesis, lower limb anomalies, and genitourinary anomalies).…”

Section: Figure 3 Posterior View Of Gross Specimen Demonstrating Closmentioning

confidence: 99%

“…Of note, over 70o/o of fetuses with anorectal atresia demonstrate concurrent anomalies. 5 MILLER ET AL 671 The VACTERL association is presumed to arise from a disorder of mesodermal development occurring around the fifth to seventh weeks EGA. s-a The number of anomalies required to establish the diagnosis is arbitrary, but most authors require three (or two if tracheoesophageal fistula is present).…”

Section: •mentioning

confidence: 99%

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Anorectal atresia presenting as an abdominopelvic mass.

Miller

Angtuaco²,

Quirk³

et al. 1990

Journal of Ultrasound in Medicine

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The prenatal diagnosis of fetal colonic obstruction may be of vital importance in the management of the affected pregnancy. On antenatal sonography, the dilated colon is usually a tubular structure filled with hypoechoic meconium. We present a case of a fetus with multiple anomalies of the VACTERL association (vertebral, anal, cardio· vascular, tracheoesophageal~ renal, and limb anomalies) that presented with a hyperechoic abdominopelvic mass. At autopsy, this mass was a markedly dilated distal colon that contained meconium. Colonic obstruction should be considered in the differential diagnosis of a hyperechoic mass within the lower abdomen. CASE HISTORYThe patient was a 19-year·old gravida 2, para 0 woman with a history of poorly controlled phenylketonuria (PKU) who first presented to the obstetric clinic at approximately 14 weeks estimated gestational age (EGA), Her phenylalanine level at that time was 21.2 mgjdL (normal range, 1.0-4.0 mgfdL). The patient was scheduled for a routine obstetric ultrasound in the high-risk clinic.At the time of the ultrasound examination, the EGA was approximately 17 weeks. The patient reported no problems with the pregnancy.Transabdominal ultrasound images demonstrated a single live intrauterine pregnancy in the breech presentation. Severe oligohydramnios was present. The placenta was anterior in location and showed grade I sonographic characteristics. The biparietal diameter (BPD) measured 3.4 em, the head circumference (HC) was 14.7 em, the abdominal circumference (AC) was 13.1 em, and the femur length (FL) was 23 em. The BPD, HC, and FL measurements corresponded to 15-17 weeks EGA; the AC measurement corresponded to 18 weeks EGA.The fetal head was noted to be slightly dolichocephalic, most likely due to the severe oligohydramnios. The cervicothoracic vertebral column was well seen, but because of the extreme paucity of amniotic fluid and the dose application of the spine to the uterine wall, the lumbosacral spine was not well visualized. The ventral wall was intact, and the stomach was located on the left. The kidneys and bladder could not be identified.Scans through the fetal abdomen and pelvis demonstrated a hyperechoic mass closely associated with the sacrum and iliac wings in the axial plane, that measured up to 20 em in diameter (Fig 1), A longitudinal image (Fig. 2) confirmed the location of the mass. , which could not be separated from the sacrum despite multiple attempts. Endovaginal sonography was refused. The initial impression was that of severe oligohydramnios due to renal aplasia or dysplasia, along with an unusual abdominopelvic mass.

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Section: •supporting

confidence: 54%

Section: •mentioning

confidence: 95%

Section: Figure 3 Posterior View Of Gross Specimen Demonstrating Closmentioning

confidence: 99%

Section: •mentioning

confidence: 99%

See 2 more Smart Citations

Anorectal atresia presenting as an abdominopelvic mass.

Miller

Angtuaco²,

Quirk³

et al. 1990

Journal of Ultrasound in Medicine

View full text Add to dashboard Cite

show abstract

“…2 The findings in our case at 12 weeks 6 days support those of a recent case report in which a similar cystic structure was identified in the 12th gestational week and again in the 16th. In this particular case, the pregnancy was electively terminated, with postmortem examination confirming anorectal atresia along with other anomalies.…”

supporting

confidence: 91%