Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
Sign Up to like & getrecommendations! Published in 2017 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfx031
Abstract: Background In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can… read more here.
Keywords: congenital anomalies; urinary tract; cakut; kidney urinary ... See more keywords
Longitudinal changes in fetal head biometry and fetoplacental circulation in fetuses with congenital heart defects
Sign Up to like & getrecommendations! Published in 2022 at "Acta Obstetricia et Gynecologica Scandinavica"
DOI: 10.1111/aogs.14401
Abstract: Objectives were to analyze changes in fetal cephalic biometry and fetoplacental circulation throughout pregnancy in fetuses with congenital heart defects. read more here.
Keywords: fetuses congenital; heart defects; changes fetal; congenital heart ... See more keywords
Sonographic Detection of Seizure-Like Activity in Fetuses with Congenital Infection: Report of Three Cases and Review of the Literature
Sign Up to like & getrecommendations! Published in 2019 at "Fetal Diagnosis and Therapy"
DOI: 10.1159/000500023
Abstract: Fetal seizure is a very rare prenatal finding and associated with an almost invariably poor outcome, the most common causes being hypoxic-ischemic encephalopathy, congenital anomalies of either the central nervous system (CNS) or musculoskeletal system,… read more here.
Keywords: report; detection seizure; congenital infection; fetuses congenital ... See more keywords
Longitudinal MRI Evaluation of Brain Development in Fetuses with Congenital Diaphragmatic Hernia around the Time of Fetal Endotracheal Occlusion
Sign Up to like & getrecommendations! Published in 2023 at "American Journal of Neuroradiology"
DOI: 10.3174/ajnr.a7760
Abstract: BACKGROUND AND PURPOSE: Congenital diaphragmatic hernia is associated with high mortality and morbidity, including evidence suggesting neurodevelopmental comorbidities after birth. The aim of this study was to document longitudinal changes in brain biometry and the… read more here.
Keywords: fetuses congenital; diaphragmatic hernia; congenital diaphragmatic; brain development ... See more keywords
Brain Oxygen Perfusion and Oxidative Stress Biomarkers in Fetuses with Congenital Heart Disease—A Retrospective, Case-Control Pilot Study
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DOI: 10.3390/antiox11020299
Abstract: Fetuses with congenital heart disease (CHD) have circulatory changes that may lead to predictable blood flow disturbances that may affect normal brain development. Hypoxemia and hypoperfusion may alter the redox balance leading to oxidative stress… read more here.
Keywords: fetuses congenital; oxidative stress; heart disease; congenital heart ... See more keywords
Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation
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DOI: 10.3390/genes13091517
Abstract: Congenital malformations diagnosed by ultrasound screening complicate 3–5% of pregnancies and many of these have an underlying genetic cause. Approximately 40% of prenatally diagnosed fetal malformations are associated with aneuploidy or copy number variants, detected… read more here.
Keywords: fetuses congenital; congenital malformations; next generation; yield ... See more keywords