Fetal surgery for spina bifida aperta

Spina bifida aperta (SBA) is one of the most common congenital malformations. It can cause severe lifelong physical and neurodevelopmental disabilities. Experimental and clinical studies have shown that the neurological deficits associated with SBA are not simply caused by incomplete neurulation at the level of the lesion. Additional damage is caused by prolonged exposure of the spinal cord and nerves to the intrauterine environment and a suction gradient due to cerebrospinal fluid leakage, leading to progressive downward displacement of the hindbrain. This natural history can be reversed by prenatal repair. A randomised controlled trial demonstrated that mid-gestational maternal-fetal surgery for SBA decreases the need for ventriculoperitoneal shunting and hindbrain herniation at 12 months and improves neurological motor function at 30 months of age. This came at the price of maternal and fetal risks, the most relevant ones being increased prematurity and a persistent uterine corporeal scar. Recently minimally invasive fetal approaches have been introduced clinically yet they lack extensive experimental or clinical trials. We aim to provide clinicians with the essential information necessary to counsel SBA parents as the basis for considering referral of selected patients to expert fetal surgery centres. We review the reported clinical outcomes and discuss recent developments of potentially less invasive fetal SBA approaches.status: publishe

Fetal surgical intervention for myelomeningocele: lessons learned, outcomes, and future implications

Fetal myelomeningocele (fMMC) closure (spina bifida aperta) has become a care option for patients that meet inclusion criteria, but it is clear that fetal intervention, while improving outcomes, is not a cure. This review will: (1) focus on the rationale for fMMC surgery based on preclinical studies and observations that laid the foundation for human pilot studies and a randomized controlled trial; (2) summarize important clinical outcomes; (3) discuss the feasibility, efficacy, and safety of recent developments in fetal surgical techniques and approaches; and (4) highlight future research directions. Given the increased risk of maternal and fetal morbidity associated with prenatal intervention, accompanied by the increasing number of centres performing interventions worldwide, teams involved in the care of these patients need to proceed with caution to maintain technical expertise, competency, and patient safety. Ongoing assessment of durability of the benefits of fMMC surgery, as well as additional refinement of patient selection criteria and counselling, is needed to further improve outcomes and reduce the risks to the mother and fetus. WHAT THIS PAPER ADDS: High-quality prospective studies are needed to broaden the indication for fetal surgery in the general myelomeningocele population. Innovative minimally invasive approaches have had promising results, yet lack comprehensive and robust experimental or clinical evaluation. Important information to help families make informed decisions regarding fetal surgery for myelomeningocele is provided.status: publishe

Unusual abdominal metastases in osteosarcoma

Intraabdominal metastases in the setting of osteosarcoma are very rare. We describe a case of a 17-year-old boy with high-grade right distal femur osteosarcoma who, two years after diagnosis, developed extensive intra abdominal metastases involving the omentum, peritoneum, bowel serosa, psoas muscles and abdominal soft tissue. Awareness of and surveillance for unusual patterns of metastasis may allow for earlier detection, intervention, and palliative care decision-making, which may affect survival and quality of life. This report underlines the need for prospective studies evaluating surveillance guidelines for patients after medical and surgical management of osteosarcoma, especially in cases complicated by pulmonary metastases. Keywords: Pediatric osteosarcoma, Extrapulmonary metastases, Extrapulmonary recurrence, Surveillance imagin

Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease

Caroli syndrome, which is characterized by saccular and fusiform dilatation of the biliary ducts, is usually observed in association with autosomal recessive polycystic kidney disease (ARPKD). Although the diagnosis of ARPKD is generally easy to make in postnatal ultrasound, the diagnosis of Caroli syndrome may be challenging in prenatal ultrasound. Herein, we present a case of a 29-week fetus with ARPKD associated with Caroli syndrome in whom fetal magnetic resonance imaging was essential to identify the “central dot sign” within the dilated biliary ducts to confirm the prenatal diagnosis of Caroli syndrome and to increase our level of confidence in this diagnosis. Keywords: Fetal MRI, Caroli syndrome, Autosomal recessive polycystic kidney diseas