De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

Purpose: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder.

New data on efficacy of valacyclovir in secondary prevention of maternal-fetal transmission of cytomegalovirus.

Objective: Congenital cytomegalovirus (CMV) infection is the leading cause of non-genetic hearing and neurological deficits. The aim of our study was to evaluate the efficacy and safety of valacyclovir (VCV) treatment in preventing CMV transmission to the fetus after maternal primary infection.

Methods: This was a retrospective, multicenter study evaluating the rate of maternal-fetal CMV transmission in pregnancies with maternal primary CMV infection treated with VCV at a dosage of 8 g per day (VCV group) compared with a control group of untreated women.

Ex utero intrapartum technique (EXIT): Indications, procedure methods and materno-fetal complications - A literature review.

A congenital malformation of the head, neck or thorax can lead to upper airway compression with a risk of asphyxia or neonatal death. To secure and protect the upper airway, the Ex Utero Intrapartum Therapy (EXIT) procedure has been developed. The procedure allows delivery of the fetus via a hysterotomy while relying on the placenta as the organ of respiration for the fetus prior to clamping of the umbilical cord.

Medical Termination Of Pregnancy For Psychosocial Reasons.

The requesting of medical termination of pregnancy (MTP) for psychosocial reasons invites several questions concerning progress in medicine as well raising necessary and legitimate ethical questions. The law currently permits MTP for maternal reasons at any stage of pregnancy if the woman's health is at a significant risk. However, conceptions of mental health risks remain a grey area and present difficulties in terms of psychiatric assessment.