Search Results - "Haratz, Karina Krajden"
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Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
Published in Prenatal diagnosis (01-11-2022)“…Fetal phenotype A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy…”
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A unique brain germinal matrix involvement in cytomegalovirus infected fetuses: A retrospective neurosonographic analysis with outcome correlation
Published in Prenatal diagnosis (01-06-2021)“…Objective To study the clinical significance of brain germinal matrix (GM) changes in cytomegalovirus (CMV) infected fetuses. Method This is a retrospective…”
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L1CAM variants cause two distinct imaging phenotypes on fetal MRI
Published in Annals of clinical and translational neurology (01-10-2021)“…Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging…”
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The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis
Published in Fetal diagnosis and therapy (01-01-2016)“…The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate…”
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Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Published in Prenatal diagnosis (01-12-2022)“…Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester,…”
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A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum
Published in Prenatal diagnosis (01-03-2024)“…A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC)…”
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The normal 14-18 gestational weeks "parasagittal complex" view of the fetal brain. A 3D transvaginal neurosonographic study
Published in Prenatal diagnosis (01-11-2023)“…To study the early second trimester development of brain hemispheres, lateral ventricles, choroid plexus, and ganglionic eminence/basal ganglia complex (GEBG)…”
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Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly
Published in Prenatal diagnosis (04-10-2024)“…Following termination of pregnancy due to multiple brain malformations, a non-consanguineous couple of Jewish descent sought genetic counseling. Brain…”
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Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
Published in Prenatal diagnosis (01-09-2022)“…Key points What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in…”
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Fetal body composition reference charts and sexual dimorphism using magnetic resonance imaging
Published in The American journal of clinical nutrition (15-10-2024)“…The American Academy of Pediatrics advises that the nutrition of preterm infants should target a body composition similar to that of a fetus in utero. Still,…”
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SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance
Published in Prenatal diagnosis (01-09-2023)“…Abstract A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe…”
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Brain Metabolite Differences in Fetuses With Cytomegalovirus Infection: A Magnetic Resonance Spectroscopy Study
Published in Journal of magnetic resonance imaging (09-07-2024)“…Cytomegalovirus (CMV) is the most common intrauterine infection and may be associated with unfavorable outcomes. While some CMV-infected fetuses may show gross…”
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Fetal MRI‐Based Body and Adiposity Quantification for Small for Gestational Age Perinatal Risk Stratification
Published in Journal of magnetic resonance imaging (01-08-2024)“…Background Small for gestational age (SGA) fetuses are at risk for perinatal adverse outcomes. Fetal body composition reflects the fetal nutrition status and…”
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Myocardial Function in Fetuses with Congenital Cytomegalovirus Infection
Published in Fetal diagnosis and therapy (01-12-2023)“…The objective of this study was to investigate myocardial deformation of left (LV) and right ventricle (RV) using 2-dimensional speckle-tracking…”
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Subtle findings on fetal brain imaging in CMV infected pregnancies: What is the clinical significance? A retrospective analysis with outcome correlation
Published in Prenatal diagnosis (01-03-2020)“…Objective To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. Methods This was a…”
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The Fetal vermis, pons and brainstem: normal longitudinal development as shown by dedicated neurosonography
Published in The journal of maternal-fetal & neonatal medicine (01-05-2013)“…Abstract Objective: To describe the normal appearance and the growth of the fetal vermis, pons and midline brainstem by ultrasound from 18 weeks of gestation…”
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Candida glabrata Chorioamnionitis following in vitro Fertilization: Review of the Literature
Published in Gynecologic and obstetric investigation (01-10-2015)“…To review all past reports of Candida glabrata chorioamnionitis in the literature while noting their correlation with in vitro fertilization (IVF). We checked…”
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Reliability and Validity of In Vitro Volume Calculations by 3‐Dimensional Ultrasonography Using the Multiplanar, Virtual Organ Computer‐Aided Analysis (VOCAL), and Extended Imaging VOCAL Methods
Published in Journal of ultrasound in medicine (01-05-2010)“…Objective. The purpose of this study was to assess the reliability and validity of in vitro volume calculations by 3‐dimensional ultrasonography. Methods. This…”
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Assessment of cerebral circulation in normal fetuses by three-dimensional power Doppler ultrasonography
Published in European journal of radiology (01-03-2012)“…Abstract Objective: To assess the three-dimensional power Doppler ultrasonography (3D power Doppler) vascular indices in the middle cerebral artery (MCA),…”
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