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Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Neurol Genet
February 2025
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada.
Background And Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes.
View Article and Find Full Text PDFRare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Nat Commun
January 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. We report analyses of rare variants that impact birth weight when carried by either fetus or mother, using whole exome sequencing data in up to 234,675 participants. Rare protein-truncating and deleterious missense variants are collapsed to perform gene burden tests.
View Article and Find Full Text PDFNeonatal outcomes among twins born through assisted reproduction, compared to those born naturally.
Medicine (Baltimore)
November 2024
Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
The growing prevalence of assisted reproductive technology (ART) is leading to a continuous rise in twin pregnancies. This study assessed the influence of ART on neonatal outcomes of twin pregnancies. Clinical records of twin deliveries at Fujian Maternity and Child Health Hospital between 2019 and 2021 were retrospectively selected and grouped based on the method of conception: ART-conceived and naturally conceived.
View Article and Find Full Text PDFMaternal occupational exposures during early stages of pregnancy and adverse birth outcomes in the NINFEA birth-cohort.
PLoS One
January 2025
Department of Medical Sciences, Cancer Epidemiology Unit, University of Turin and CPO-Piemonte, Turin, Italy.
Objectives: Maternal occupational exposures during early pregnancy can be detrimental to foetus health and have short- and long-term health effects on the child. This study examined their association with adverse birth outcomes.
Methods: The study included 3938 nulliparous women from the Italian NINFEA mother-child cohort.
Perioperative Management of Patients with Preeclampsia: A Comprehensive Review.
Anesthesiology
February 2025
Division of Obstetric Anesthesiology, Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Preeclampsia is a common condition of pregnancy characterized by hypertension complicated by cerebral, cardiac, hepatic, renal, hematologic, and placental dysfunction. Patients with preeclampsia frequently undergo cesarean delivery, the most common major surgical procedure in the world. They represent a high-risk perioperative cohort suffering significant preventable morbidity and mortality.
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