Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Blood pressure medication use and postpartum hospital readmission among preeclampsia patients.

Background: Blood pressure medication is often prescribed to patients with preeclampsia. We are not aware of any study on readmission of those with preeclampsia to the hospital that considers blood pressure medication use or dose.

Methods: This was a retrospective study of 440 preeclampsia patients diagnosed during the antepartum, intrapartum, or immediate postpartum period prior to discharge from the hospital.

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

To delineate further the clinical phenotype of Lamb-Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. Clinical phenotyping tables were completed for each patient by their responsible clinical geneticist. Photos and clinical features were compared to assess key phenotypes and genotype-phenotype correlation.

Impact of Aspirin Supplementation for Pre-Eclampsia Prevention on Neonatal Outcomes.

Introduction: Pre-eclampsia negatively affects pregnancy. In 2018, the American College of Obstetricians and Gynecologists (ACOG) updated their low dose aspirin (LDA) supplementation recommendation to include pregnant women at moderate risk for pre-eclampsia. In addition to the potential benefit of LDA supplementation for delaying or preventing pre-eclampsia, LDA supplementation can affect neonatal outcomes.