Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.

Objective: This systematic review and meta-analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD).

Methods: A systematic search of three databases (2000-2024) was conducted, and two reviewers independently screened studies and extracted data following PRISMA and MOOSE guidelines. Pooled proportions were calculated using a random-effects model, and study quality was assessed using modified STARD criteria.

Rationale for the use of fetal ventriculosubgaleal shunts for the treatment of aqueduct stenosis.

Fetal hydrocephalus causes irreversible neural injury , yet no prenatal therapy currently exists. Postnatal treatments such as ventriculoperitoneal shunts and endoscopic third ventriculostomy with choroid plexus cauterization cannot reverse pre-existing brain injury. We propose that the ventriculosubgaleal shunt (VSGS), widely used as a temporizing measure in severely premature neonates, may offer a feasible and ethically justifiable approach for treatment.

Current challenges in intrauterine management of obstructive fetal hydrocephalus and future directions.

Aqueductal stenosis is a specific type of non- communicating hydrocephalus, which is characterized by narrowing or constriction of the cerebral aqueduct, also known as the aqueduct of Sylvius. Due to the blockage, the flow of cerebrospinal fluid (CSF) through the aqueduct becomes restricted or obstructed, leading to an abnormal accumulation of CSF within the ventricles and increased intracranial pressure. Progressive expansion of the ventricles leads to increasing cerebral mantle compression during fetal brain development, which can lead to irreversible damage with deleterious consequences.

Feasibility and efficacy of vascular closure device for sealing uterine entry site: preliminary results from pregnant sheep model.

Objective: Membrane damage at or near the uterine entry site is a prevalent complication of fetal surgery and may result in chorioamniotic separation (CAS), preterm prelabor rupture of membranes (PPROM) and preterm birth. Transamniotic transuterine suturing approaches offer the potential to reduce the prevalence of CAS and PPROM accompanying fetoscopy, with the overarching aim of reducing preterm birth. This study aimed to explore the feasibility and potential efficacy of employing a novel vascular closure device for transamniotic transuterine suturing in a sheep model of fetoscopic surgery.