Publications by authors named "Birnbaum Roee"

10 Publications

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WAPM-World Association of Perinatal Medicine practice guidelines: fetal central nervous system examination.

J Perinat Med 2021 Jun 3. Epub 2021 Jun 3.

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

These practice guidelines follow the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation, bringing together groups and individuals throughout the world, with the goal of improving the ultrasound assessment of the fetal Central Nervous System (CNS) anatomy. In fact, this document provides further guidance for healthcare practitioners for the evaluation of the fetal CNS during the mid-trimester ultrasound scan with the aim to increase the ability in evaluating normal fetal anatomy. Therefore, it is not intended to establish a legal standard of care. This document is based on consensus among perinatal experts throughout the world, and serves as a guideline for use in clinical practice.
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http://dx.doi.org/10.1515/jpm-2021-0183DOI Listing
June 2021

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

The early pattern of human corpus callosum development: A transvaginal 3D neurosonographic study.

Prenat Diagn 2020 09 2;40(10):1239-1245. Epub 2020 Jun 2.

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

Objective: To provide an in-vivo description of early corpus callosum (CC) development.

Methods: We reviewed 3D US volumes acquired transvaginally (TVUS) through the anterior fontanelle, between 14 to 17 weeks. The following landmarks were recognized: tela-choroidea (TC), foramina of Moro, early CC and the evolving cavum septi pellucidi. The following measurements were taken: total, anterior and posterior sections, and height of the CC (referenced to the anterior TC border). All measurements were correlated to both the gestational age and the transverse cerebellar diameter (TCD).

Results: Eighty nine volumes were included in the study (mean 15.1 weeks ± 0.84, TCD range, 13.1-18.4 mm) with high inter and intra observer correlation of the measurements. We found high correlation between CC length and height, and TCD. The anterior segment of the CC appear earlier than the posterior one, and growth continues bi-directionally. Initially, the posterior elongation is significantly larger than the anterior one. Association of all CC measurements with TCD remained significant when co-varying for maternal age and fetal sex.

Conclusions: imaging the fetal CC is feasible from 14 weeks by TVUS, by following the suggested insonation approach. The early CC develops bi-directionally, and the posterior elongation is more significant than the anterior one.
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http://dx.doi.org/10.1002/pd.5735DOI Listing
September 2020

Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors.

Prenat Diagn 2020 07 6;40(8):931-941. Epub 2020 May 6.

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

Objective: The purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation.

Methods: This retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and genetic studies were recorded. Pregnancy outcome, postnatal, or postmortem results were obtained. Images from patients with normal (Group 1) and abnormal postnatal development (Group 2) were compared for analysis of factors predictive of outcome.

Results: One-hundred and fifteen pseudocysts were observed in 59 patients. In 34 fetuses (57%), the PVPC was an isolated finding. Thirty-nine patients delivered live newborns, 27% opted for termination of pregnancy, and 4 patients were lost to follow-up. Eighty-four percent of the liveborns had normal development. When assessing for the influence of pseudocyst characteristics, a wide CSP, or large head circumference, neither of these affected the outcome. The presence of additional anomalies was the only positive predictor for abnormal development regradless of specific PVPC characteristics (P = .002).

Conclusions: In fetuses with PVPCs, the presence of additional anomalies was the only predictor for adverse postnatal outcome. No association between cystic characteristics and adverse outcome was observed.
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http://dx.doi.org/10.1002/pd.5704DOI Listing
July 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

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Am J Med Genet A 2019 01 4;179(1):78-84. Epub 2018 Dec 4.

Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 10 patients have been described with mutations in PRMT7. The shared findings include: hypotonia, intellectual disability, short stature, brachydactyly, and mild dysmorphic features. We describe the prenatal, postnatal, and pathological findings in two male sibs homozygote for a mutation in PRMT7. Both had intrauterine growth restriction involving mainly the long bones. In addition, eye tumor was found in the first patient, and nonspecific brain calcifications and a systemic venous anomaly in the second. The pregnancy of the first child was terminated and we describe the autopsy findings. The second child had postnatal growth restriction of prenatal onset, hypotonia, strabismus, sensorineural hearing loss, genitourinary and skeletal involvement, and global developmental delay. He had dysmorphic features that included frontal bossing, upslanting palpebral fissures, small nose with depressed nasal bridge, and pectus excavatum. Our patients provide additional clinical and pathological data and expand the phenotypic manifestations associated with PRMT7 homozygote/compound heterozygote mutations to include brain calcifications and delayed myelination, and congenital orbital tumor.
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http://dx.doi.org/10.1002/ajmg.a.6DOI Listing
January 2019

Ultrasound imaging of the fetal secondary palate: Methodological description of a two-dimensional approach and a case series.

Prenat Diagn 2018 12;38(13):1049-1054

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

Objective: The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation.

Methods: This is a two parts retrospective study. First, we measured the antero-posterior length of the bony secondary palate, from the soft to hard palate interface (SHPI) line to the alveolar ridge, blindly by two operators during routine scans of low-risk fetuses, and plot a longitudinal growth curve. In the second part, we describe four cases of prenatal diagnosis of secondary palate cleft.

Results: Sixty-eight fetuses were included: 14 to 15 weeks (n = 20), 21 to 24 weeks (n = 32), and 29 to 35 weeks (n = 16). The bony secondary palate elongates along gestation from a mean of 5.3 mm (+/-0.46 mm) at 14 to 15 weeks to 15.9 mm (+/-1.7 mm) at 29 to 35 weeks. We found high intraobserver and interobserver correlation between measurements. All four cases diagnosed by this approach were confirmed postnatally.

Conclusions: The SHPI, representing the normally developed secondary bony palate, can be imaged in the fetus by direct 2D ultrasound as early as 14 weeks. A gap within or nonvisualization of the SHPI is highly suggestive for a secondary palate cleft.
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http://dx.doi.org/10.1002/pd.5385DOI Listing
December 2018

The third ventricle of the human fetal brain: Normative data and pathologic correlation. A 3D transvaginal neurosonography study.

Prenat Diagn 2018 08 21;38(9):664-672. Epub 2018 Jun 21.

Istituto G. Gaslini, Fetal Medicine and Surgery Unit, Genoa, Italy.

Objective: The objective of the study are to describe (a) the technical aspects and (b) the anatomical boundaries of the fetal third ventricle (3V) on the midsagittal sonographic view and to assess (c) different biometric parameters in normal and abnormal fetuses and (d) and their reproducibility.

Methods: This study included 67 normal and 50 CNS anomalies fetuses which include (1) obstructive severe ventriculomegaly (SVM; atrial width ≥ 15 mm), (2) moderate ventriculomegaly (10-14.9 mm), and (3) corpus callosum agenesis (ACC). All underwent transvaginal 3D neurosonography of the midsagittal view of the 3V. The following parameters were measured: area, perimeter, craniocaudal and anteroposterior (AP) diameters, interthalamic adhesion diameter (ITAD), wedge angle, and the ratio between the last 2 variables (ITAD/WA). Repeatability was also assessed.

Results: The ITAD and the ITAD/WA are significantly different between normal fetuses and the SVM (P ≤ .001). Interthalamic adhesion diameter of ≤7.1 mm is able to identify SVM with 98.6% accuracy (CI: 0.92-0.99). In ACC cases, the AP diameter is significantly shorter than both normal fetuses and ventriculomegaly. Intraobserver/interobserver reliability was good for most variables.

Conclusions: Transvaginal neurosonography enables visualization of the normal and abnormal fetal third ventricle. An ITAD <7.1 identifies aqueductal stenosis as the likely etiology of severe ventriculomegaly with an accuracy of 98.6%.
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http://dx.doi.org/10.1002/pd.5292DOI Listing
August 2018

The use of fetal neurosonography and brain MRI in cases of cytomegalovirus infection during pregnancy: A retrospective analysis with outcome correlation.

Prenat Diagn 2017 12;37(13):1335-1342

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

Objective: To analyze ultrasound (US) and magnetic resonance imaging (MRI) results and developmental outcome in cases of maternal primary cytomegalovirus (CMV) infection during pregnancy.

Methods: We retrospectively reviewed the results of fetal neurosonography and brain MRI of CMV-infected fetuses (Group 1). Cases of maternal infection in which the fetal status was unknown, and subsequently had a negative CMV postnatal urine analysis, were independently analyzed (Group 2). Imaging results were classified as follows: positive, negative, or inconclusive. Developmental landmarks were followed up.

Results: Eighty-one women were included in the study: 48 (59.2%) in Group 1 and 33 (40.8%) in Group 2. In Group 1, termination of pregnancy was performed in 8 cases (16.7%) following the diagnosis of brain abnormalities. Among the remaining cases, concordance rate between US and MRI was 78%. False negative rates for US and MRI were 5.5% and 6.4%, respectively (hearing deficits). For MRI, we found 17.5% of false positive/inconclusive results, while for the US, we found 5% of inconclusive results. In Group 2, false positive rates for US and MRI were 6.5% and 12.9%, respectively.

Conclusions: Adding MRI in CMV-infected cases with a normal neurosonographic follow-up should be weighed against a nonnegligible rate of false positive and inconclusive findings.
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http://dx.doi.org/10.1002/pd.5180DOI Listing
December 2017

Outcome of singleton pregnancy in women ≥ 45 years old: a retrospective cohort study.

J Matern Fetal Neonatal Med 2012 Nov 11;25(11):2190-3. Epub 2012 May 11.

Department of Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

Objective: To investigate prematurity rate in women aged ≥ 45 carrying a singleton pregnancy. Other maternal and neonatal outcomes are also described.

Design: Retrospective cohort study.

Setting: Women delivering a singleton pregnancy at a single tertiary medical center.

Population: The study included all women aged 45 years and over who delivered at 20 weeks gestation or beyond over a 9-year period from May 2000 to May 2009.

Methods: Women aged 45 years and over were identified. The study group was compared to a control group of women <40 years with singleton pregnancies conceived by in vitro fertilization (IVF) who delivered during the same time period.

Main Outcome Measure(s): Maternal complications during pregnancy and neonatal outcome.

Results: During the study period 278 women ≥ 45 years delivered a singleton pregnancy. The control group included 304 women. The rate of delivery before 37 weeks as well as before 32 weeks were very high in our study group (18.7 vs. 10.9%, p = 0.009 and 5.4 vs. 2.0%, p = 0.04, respectively). In multivariate analysis, older maternal age was not independently related to prematurity. Chronic hypertension (HTN) was found to be a major risk factor associated with prematurity in advanced maternal age.

Conclusions: Women ≥ 45-years-old with a singleton pregnancy carry a higher risk of maternal and perinatal complications. Preterm birth is a significant complication in this age group and is associated with preexisting chronic HTN.
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http://dx.doi.org/10.3109/14767058.2012.684108DOI Listing
November 2012