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Background: Identifying fetuses at risk of severe neonatal coarctation of the aorta (CoA) can be lifesaving but is notoriously challenging in clinical practice with a high rate of false positives. Novel fetal 3-dimensional and phase-contrast magnetic resonance imaging (MRI) offers an unprecedented means of assessing the human fetal cardiovascular system before birth. We performed detailed MRI assessment of fetal vascular morphology and flows in a cohort of fetuses with suspected CoA, correlated with the need for postnatal intervention.
Methods: Women carrying a fetus with suspected CoA on echocardiography were referred for MRI assessment between 26 and 36 weeks of gestation, including high-resolution motion-corrected 3-dimensional volumes of the fetal heart and phase-contrast flow sequences gated with metric optimized gating. The relationship between aortic geometry and vascular flows was then analyzed and compared with postnatal outcome.
Results: Seventy-two patients (51 with suspected fetal CoA and 21 healthy controls) underwent fetal MRI with motion-corrected 3-dimensional vascular reconstructions. Vascular flow measurements from phase-contrast sequences were available in 53 patients. In the CoA group, 25 of 51 (49%) required surgical repair of coarctation after birth; the remaining 26 of 51 (51%) were discharged without neonatal intervention. Reduced blood flow in the fetal ascending aorta and at the aortic isthmus was associated with increasing angulation (=0.005) and proximal displacement (=0.006) of the isthmus and was seen in both true positive and false positive cases. A multivariate logistic regression model including aortic flow and isthmal displacement explained 78% of the variation in outcome and correctly predicted the need for intervention in 93% of cases.
Conclusions: Reduced blood flow though the left heart is associated with important configurational changes at the aortic isthmus in fetal life, predisposing to CoA when the arterial duct closes after birth. Novel fetal MRI techniques may have a role in both understanding and accurately predicting severe neonatal CoA.
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http://dx.doi.org/10.1161/CIRCIMAGING.121.012411 | DOI Listing |
Clin Genet
September 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum.
View Article and Find Full Text PDFJ Assist Reprod Genet
September 2025
Division of Reproductive and Developmental Sciences, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA.
Purpose: To determine if melatonin-enriched culture media could offset loss of imprinting in mouse concepti.
Methods: Zygotes were cultured to blastocyst stage under optimized conditions in melatonin-supplemented media at either 10 M (MT 10) or 10 M (MT 10), or without supplementation (Culture + embryo transfer, or ET, positive control). Blastocysts were also developed in vivo (ET negative control).
J Matern Fetal Neonatal Med
December 2025
Department of Obstetrics and Gynecology, Yuncheng Central Hospital Affiliated to Shanxi Medical University, Yuncheng, China.
Background: Mood swings are associated with an elevated risk of preterm birth. However, the causal relationships between them still remain unclear.
Methods: We performed a two-sample Mendelian randomization (MR) analysis to clarify the association between mood swings and preterm birth.
Rev Med Interne
September 2025
Service de médecine interne, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, 86000 Poitiers, France; Université de médecine et de pharmacie, université de Poitiers, Poitiers, France; Inserm U1313, université de Poitiers, Poitiers, France.
Introduction: Many women of childbearing age are being treated for chronic conditions that require long-term medication. We assessed the knowledge of women being treated in internal medicine and clinical immunology, regarding the impact of their disease and specific treatments on a potential pregnancy.
Methods: Between September 1st, 2019, and November 1st, 2020, in four hospitals in the Poitou-Charentes region, a questionnaire was given to every woman aged 18 to 44 who came in for an internal medicine and clinical immunology consultation for the follow-up of a chronic systemic disease.
Alcohol Clin Exp Res (Hoboken)
September 2025
Department of Neuroscience and Experimental Therapeutics, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Background: Prenatal alcohol exposure (PAE) causes fetal alcohol spectrum disorder (FASD) and is associated with various cognitive and sensory impairments, including olfactory dysfunction. While both genetic and environmental factors contribute to olfactory dysfunction, PAE is considered a significant factor affecting brain development, including the olfactory system. In this study, we investigated the impact of PAE on the developing olfactory bulb (OB), specifically focusing on OB RGCs-radial glial cells that give rise to OB projection neurons.
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