Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: Clinical evidence for counseling

Abstract

A rare dysmorphologic fetal anomaly at the 17th week of gestation was suspected during a second trimester routine scan for fetal and maternal screening data. First findings were significant for a severe abdominal wall defect, limb and foot compromised positions. Fetal biometry was appropriate in biparietal diameter and head circumference measurements; the long upper bones were normal both for length and development. The patient was referred to a prenatal unit to complete the sonographic diagnosis. Two- and three-dimensional sonographic investigations were performed and techniques were complementary for fetal maldevelopment specification. Limb-body wall complex with lumbosacral spine torsion and lower limbs with severely abnormal features were identified. With 2D color Doppler, a heart defect was confirmed and the umbilical cord was missing from the amniotic cavity. An invasive procedure by amniocentesis was made to ascertain alpha-fetoprotein levels and fetal karyotype. Following parental counseling, pregnancy was terminated and feto-pathological examination confirmed the sonographic diagnosis. The 17-week fetus affected by limb-body wall complex is reported herein; 2D and 3D scans of the fetus identified organ displacement due to a combination of very early events.

Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology

“…44 Rare cases of absent umbilical cord -achordia -have been reported and are usually associated with structural fetal anomalies including abdominal wall defects, limb body wall sequence. 36,45,46 Other rare cases of absent umbilical cord have been reported, such as the recent publication of prenatal sonographic confirmation of the recipient twin in a case of twin reversed arterial perfusion (TRAP) sequence, which was completely embedded in the placenta with no evidence of an umbilical cord at delivery (Figure 2). 47 In contrast to other fetal organs, the placenta or the uterine cervix, the umbilical cord is seldom depicted or tracked sonographically throughout its entire length.…”

Abdominal Wall Defects in Prenatal Medicine

“…Various forms were therefore classified, according also to Victoria et al [9] and Revels et al [10]: they can be summarized as follow: Gastroschisis (G) and O which are the most frequent ventral AWD (VAWD/AWDs), followed by Bladder Exstrophy (BE) and Ectopia Cordis (EC) [14], causing varying degrees of severe pathological entities, mainly represented by the phenotype expression of the umbilical hernias (UE) evidences. Furthermore, Pentalogy of Cantrell (PCO) [5], Prune Belly Syndrome (PBS), Limb Body Wall Complex (LBWC) (Figure 6) [20], Body Stalk Anomaly (BSA) (Figure 5), Amniotic Band Syndrome (ABS), OIES , Cloacal Extrophy (CC), complete the constellation of the pathological panel extensively described in literature.…”

“…Cross-sectional view 2: embryo shows lateral folding; the somatic mesoderm grows ventrally and medially, pinching off the yolk sac; this results in an outer tube (abdominal wall) surrounding an inner tube (gastrointestinal tract). Reprinted, totally identical to the original, with permission from The Radiological Society of North America RSNA ® , full credit[20].…”

“…Schematic of physiologic bowel herniation that occurs during weeks 6-12 of development.Return of bowel into the abdominal cavity is accompanied by a 270° counterclockwise rotation. Reprinted, totally identical to the original, with permission from The Radiological Society of North America RSNA ® , full credit[20].…”

Limb-body wall complex: a case report

“…The pathogenic basis of limb-body wall complex includes: vascular disruption on the fetal side, an incomplete fusion of the amnion to the chorion, and a short or absent umbilical cord. 2 Prognosis is poor with an extremely high incidence of miscarriage, preterm labour and intrauterine death. Neonatal demise is invariable.…”