Search results for "Labor Presentation"

showing 2 items of 2 documents

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

2020

PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non-compaction of the myocardium of the left ventricle. Exom…

AdultHeart Defects CongenitalMalemedicine.medical_specialtyCardiomyopathyBiologyLabor PresentationGenetic HeterogeneityPregnancyExome SequencingGeneticsmedicineHumansMissense mutationGenetic Predisposition to DiseaseGenetics (clinical)Exome sequencingGeneticsFetusGenes ModifierGenetic heterogeneityInfant NewbornEndocardial fibroelastosisMiddle AgedFetal Presentationmedicine.diseasePedigreeDNA-Binding ProteinsMutationMedical geneticsFemaleCardiomyopathiesTranscription FactorsAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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Occiput-spine relationship: shoulders are more important than head.

2017

BACKGROUND:To understand the role of fetal spine position in determining a fetal head position at the time of birth and modality of delivery. PATIENTS AND METHODS: This was a multicenter prospective observational study. Fetal occiput and spine position were evaluated by intrapartum ultrasound. Eighty-six women were eligible for inclusion in the study. Occiput rotational movements and modality of delivery in relation to the fetal spine position were investigated. RESULTS: At the beginning of labor, fetal occiput was in a posterior position in 52.3% of cases and, in 81.5% of cases the spine was in an anterior transverse position. At birth, occiput and spine were both in an anterior position i…

Shoulders head occipit-spine relationshipShoulderOcciput-Spine RelationshipSocio-culturaleFetal spineObstetric labor Fetal spine Intrapartum ultra- sound Occiput posterior Occiput-Spine Relationship.SpineUltrasonography PrenatalLabor PresentationObstetric labor Fetal spine Intrapartum ultrasound Occiput posterior Occiput-Spine Relationship.Obstetric laborFetusPregnancyOcciput posteriorHumansFemaleProspective StudiesHeadIntrapartum ultra- soundEuropean review for medical and pharmacological sciences
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