Publications by authors named "Krajden Haratz Karina"

7 Publications

  • Page 1 of 1

A unique brain germinal matrix involvement in cytomegalovirus infected fetuses: A retrospective neurosonographic analysis with outcome correlation.

Prenat Diagn 2021 Jun 5;41(7):877-883. Epub 2021 Feb 5.

OB-GYN Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Objective: To study the clinical significance of brain germinal matrix (GM) changes in cytomegalovirus (CMV) infected fetuses.

Method: This is a retrospective analysis. Group A; isolated GM finding, with or without lenticulostriatal vasculopathy (LSV). Group B; non-isolated lesion. Amniocentesis, urinalysis, postnatal US and developmental assessment, were obtained.

Results: Group A and B included 18 and four fetuses, respectively. In group A, mean fetal age at diagnosis was 34.3 weeks (31-38 weeks). In 15/18 (83.3%), the lesion was bilateral and LSV was present in 8/18 (44.4%). Small cysts appeared inside the lesion in 5/18 (27.7%). MRI was normal in 8/18 (44.4%). Subtle or inconclusive findings were reported in the remaining fetuses. Brain ultrasound was normal in 10/18 (55.5%) of newborns. In the remaining, caudothalamic cyst with or without LSV, or isolated LSV were found. All newborns are developing normally at a mean follow-up age of 33.3 months (+/- 19.6 moths). In group B, all four patients requested for termination of pregnancy.

Conclusion: Fetal CMV infection may cause focal GM changes, frequently accompanied by LSV, late in pregnancy. These changes may be isolated, or as part of a more generalized brain damage. When isolated, favorable prognosis is expected.
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http://dx.doi.org/10.1002/pd.5888DOI Listing
June 2021

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

Eur J Paediatr Neurol 2020 May 4;26:46-60. Epub 2020 Mar 4.

Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Objective: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome.

Methods: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases. We describe the pathological features of dysgyria in the two aborted fetuses.

Results: The mother and son from family 1 had a history of mild developmental delay in motor and language skills and demonstrated mild cerebellar signs and mirror movements. Neuroimaging findings included: hypoplastic corpus callosum (CC), asymmetric ventriculomegaly and cerebellar vermis hypoplasia in all patients and frontal dysgyria in three. Autopsy of the fetal brain showed an unusual shape and orientation of the frontal sulci and gyri with normal cortical layering and no abnormal cell types. The mother of family 2 had congenital strabismus, mild muscle weakness on the right and a past history of developmental delay. Fetal brain MRI showed abnormal cerebral sulcation, hemispheric asymmetry, asymmetric ventriculomegaly, dysmorphic short CC and frontal cortical interdigitation. Autopsy demonstrated fronto-parietal predominant dysgyria, bilateral ventriculomegaly, hippocampal and CC hypoplasia, abnormal Sylvian fissure. Lamination and neuron morphology in the areas of dysgyria were normal.

Conclusions: TUBB3 related cortical malformations can be mild, consistent with dysgyria rather than typical pachygyria or polymicrogyria. The autopsy findings in fetal TUBB3 related dysgyria are abnormal orientation of sulci and gyri, but normal neuron morphology and layering. We suggest that TUBB3 - associated brain malformations can be suspected in-utero which in turn can aid in prognostic counselling and interpretation of genetic testing.
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http://dx.doi.org/10.1016/j.ejpn.2020.03.001DOI Listing
May 2020

Subtle findings on fetal brain imaging in CMV infected pregnancies: What is the clinical significance? A retrospective analysis with outcome correlation.

Prenat Diagn 2020 03 24;40(4):447-453. Epub 2020 Feb 24.

OB-GYN Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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 retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment.

Results: For the 27 included patients, the time of infection was: periconception, first, second, third trimesters or unknown in 14.8%, 29.7%, 40.7%, 7.4%, and 7.4%, respectively. Seventy-four percent had only MRI findings; white matter hyperintense T2 signal (HT2) (51.8%), mild ventriculomegaly (18.5%), HT2 and temporal cyst (7.4%), dilated occipital horn (7.4%), Periventricular pseudo cyst (PVPC) with dilated occipital horn (3.7%), isolated PVPC (7.4%), choroid plexus cyst (3.7%). In 26% of fetuses, additional ultrasound findings were observed: Lenticulostriatal vasculopathy (LSV) (11.1%), LSV with PVPC (3.84%), isolated PVPC (3.84%), mild ventriculomegaly (3.84%), and bilateral temporal cysts (3.84%). In 66.6%, the MRI had false-positive findings (due to noninfected neonates). All children are developing normally, and one has a hearing deficit. Postnatal ultrasound (US) was normal in 21/27, with LSV in five, and a resolving subependymal cyst in one patient.

Conclusion: Subtle imaging findings are more common on MRI than US and the prognosis is most likely favorable. Performing amniocentesis will significantly reduce the false-positive rate.
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http://dx.doi.org/10.1002/pd.5634DOI Listing
March 2020

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Eur J Paediatr Neurol 2018 May 26;22(3):525-531. Epub 2017 Dec 26.

Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Objectives: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family.

Methods: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.

Results: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).

Conclusions: The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene.
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http://dx.doi.org/10.1016/j.ejpn.2017.12.012DOI Listing
May 2018

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.

Fetal Diagn Ther 2018 17;43(1):53-60. Epub 2017 Jun 17.

Fetal Neurology Clinic and Ultrasound in ObGyn Unit, Wolfson Medical Center, Holon, Israel.

Objective: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA).

Methods: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed.

Results: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal.

Conclusions: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis.
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http://dx.doi.org/10.1159/000464247DOI Listing
August 2018

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.

Fetal Diagn Ther 2016 7;40(4):277-284. Epub 2016 Apr 7.

Division of Prenatal Diagnosis, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon, Israel.

Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis.

Subjects And Methods: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings.

Results: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations.

Discussion: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted.
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http://dx.doi.org/10.1159/000444298DOI Listing
February 2017

Candida glabrata Chorioamnionitis following in vitro Fertilization: Review of the Literature.

Gynecol Obstet Invest 2015 12;80(3):145-7. Epub 2015 Jun 12.

Department of Obstetrics and Gynecology, Edith Wolfson Medical Center, Holon, Israel.

Aim: To review all past reports of Candida glabrata chorioamnionitis in the literature while noting their correlation with in vitro fertilization (IVF).

Methods: We checked MEDLINE, PubMed and Google scholar (January 1970 to December 2014) for articles using the search terms 'Candida', 'Torulopsis', 'glabrata', 'chorioamnionitis', 'congenital', 'perinatal' and 'infection'. Case reports were included if they described a verified intrauterine infection with C. glabrata. The authors reviewed the articles and abstracted the data. 20 cases were compared, including a case reported from our institution shortly described in this article.

Results: 13 of 20 cases (65%) involved pregnancies achieved by IVF; 3 patients underwent amniocentesis during their pregnancy. Of the 7 cases with no history of IVF, 2 involved a history of cerclage and 2 a history of intrauterine device use. Only 6 infants survived, delivered prematurely by cesarean section.

Conclusions: Review of literature demonstrated a high prevalence of IVF-assisted pregnancies among the few C. glabrata chorioamnionitis cases previously described, typically occurring during the second trimester. Additional cases were notable for additional instrumentation/invasive procedure. The prognosis was mostly grim, entailing a high incidence of stillbirth or rapid neonatal death.
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http://dx.doi.org/10.1159/000431221DOI Listing
August 2016