Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

Abstract

Objective To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as compared with our own diagnostic experience. Study Design A comprehensive literature review of diagnostic criteria of fetal VBWD including pentalogy of Cantrell (POC), omphalocele, exstrophy, imperforate anus, spina bifida (OEIS), cloacal exstrophy, limb–body wall complex (LBWC), and body stalk anomaly was performed followed by a retrospective review of all fetal magnetic resonance imaging (MRI) examinations from our medical center over a 2-year period. Results Classically, OEIS is omphalocele, bladder exstrophy, imperforate anus, and spina bifida. POC is defects of the supraumbilical abdomen, sternum, diaphragm, pericardium, and heart. LBWC is two of the following: exencephaly or enencephaly with facial clefts, thoracoschisis or abdominoschisis, and limb defects. Twenty-four cases of VBWD on MRI over a 24-month period were identified with seven cases involving defects of additional organ systems. Six of these seven cases demonstrated findings from two or more of the traditional diagnoses POC, OEIS, and LBWC making diagnosis and counseling difficult. Conclusion There is a lack of consensus on useful diagnostic criteria within the published literature which is reflected in our own diagnostic experience and poses a challenge for accurate prenatal counseling.

Pentalogy of Cantrell

“…Recent studies have stressed that strict classification is not as important as a thorough description and understanding of the congenital abnormalities in utero. For example, Coleman et al looked at patients with Pentalogy of Cantrell, OEIS (omphalocoele, exstrophy, imperforate anus, spina bifida), and LBWC (limb-body wall complex) as a spectrum of diseases resulting from improper closure of lateral and craniocaudal folds (5). There are many overlapping features between these three syndromes, and in their cases series, they concluded that the degree of pulmonary hypoplasia was far more indicative of prognosis than any specific classification system would have been (5).…”

“…For example, Coleman et al looked at patients with Pentalogy of Cantrell, OEIS (omphalocoele, exstrophy, imperforate anus, spina bifida), and LBWC (limb-body wall complex) as a spectrum of diseases resulting from improper closure of lateral and craniocaudal folds (5). There are many overlapping features between these three syndromes, and in their cases series, they concluded that the degree of pulmonary hypoplasia was far more indicative of prognosis than any specific classification system would have been (5). In counseling families and planning for delivery and early management, a descriptive diagnosis is more valuable than trying to line characteristics up with a specific syndrome.…”

Síndrome de cordón umbilical corto

“…Estos defectos se clasifican, de forma práctica, como periumbilicales (onfalocele y gastrosquisis), de la línea media inferior (extrofia de vejiga y extrofia de cloaca) y de la línea media superior (pentalogía de Cantrell) 7 . Otras malformaciones menos frecuentes de la pared abdominal anterior son la hernia epigástrica congénita, la displasia de pared corporal, el síndrome de Prune Belly o síndrome de vientre en ciruela pasa, la hendidura epigástrica, los defectos de pared asociados al síndrome de bridas amnióticas (síndrome de cordón corto) [8][9][10][11] .…”

“…La única forma de detectar oportunamente esta anomalía es por medio de ultrasonografía y debe considerarse esta patología ante un defecto severo de la pared abdominal 3 . Además, en la mayoría de los casos se observa un aumento de la translucencia nucal y la elevación de la alfafetoproteína 3 , de ahí la importancia de seguir adecuadamente el protocolo de ultrasonografías durante el control prenatal [6][7][8][9][10][11] , donde la primera se indica de las 11 a las 13 semanas 6 días, la segunda de las 18 a las 24 semanas y la última en el final del tercer trimestre 6 .…”

Congenital Hernia of the Umbilical Cord: A Retrospective Case Study

“…Fetal MRI has an important role in the diagnosis of fetal ventral body wall defects like omphalocele, exstrophy, cloacal exstrophy, pentalogy of Cantrell (POC), etc. 17,18 In the study conducted by Victoria et al, they concluded that fetal MRI is an important tool to diagnose abdominal wall defects. 19 In their study, they elaborated on abdominal wall defects ranging from the mild umbilical cord hernia to the highly complex limb-body wall syndrome.…”