Objective
To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus.
Methods
Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006–2017. Prenatal and postnatal signs including the specific “whirlpool sign” were computed. Postnatal volvulus was confirmed by pathology examination after surgery or neonatal autopsy.
Results
Thirteen cases of midgut volvulus were identified. Though not a specific sign, a decrease in active fetal movements was reported in eight patients (61.5%). The prenatal whirlpool sign was directly seen in 10 cases, while an indirect but suggestive sign, a fluid‐filled level within the dilated loops, was present in five cases. No intestinal malrotation was observed. Pregnancy outcomes were two terminations of pregnancy, both associated with cystic fibrosis, one early neonatal death, three prenatal spontaneous regressions, and seven favorable outcomes after neonatal surgery with resection of midgut atresia.
Conclusions
Identification of the whirlpool sign or of a fluid‐filled level within the dilated loops improves the accuracy of ultrasound findings for suspected volvulus. In the absence of total volvulus (in cases of intestinal malrotation) or association with cystic fibrosis, the prognosis appears good.
The amount of spinal CSF in neonates can be estimated as 2 ml kg(-1) in both term and formerly preterm neonates. A difference in the CSF volume between them does not provide an explanation for a shorter duration of SA in the latter. Our findings reinforce weight-adjusted dosage of SA in neonates.
All sequenced patients showed a unique homozygous mutation of c.667G>A, p.Gly223Ser (NM_012200) in the beta-1,3-glucuronyltransferase 3 (B3GAT3) gene known to be involved in linkeropathy syndrome. Linkeropathies correspond to a recently identified group of heterogeneous genetic syndromes along a spectrum of skeletal and connective tissue disorders. These patients featured mainly craniosynostosis, midface hypoplasia, bilateral radioulnar synostosis, multiple neonatal fractures, dislocated joints, joint contracture, long fingers, foot deformity, and cardiovascular abnormalities. All died before 1 year of age.ConclusionWe identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome.
• Congenital diaphragmatic hernia is usually managed conservatively before surgery soon after delivery • Fetoscopic endoluminal tracheal occlusion (FETO) has been introduced for severely affected foetuses • In conservatively managed CDH, the liver-to-thoracic volume ratio (LiTR) predicted postnatal survival best. • In severe CDH with prenatal FETO, LiTR also helped predict postnatal survival. • LiTR should be integrated into the prenatal decision-making for foetuses with CDH.
Virtual volumetry may provide significant information concerning the macroscopic features of the main organs and help pathologists in sampling organs that are more likely to yield histological findings.
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