Article
Obstetrics & Gynecology
Kerry Holliman, Ilina D. Pluym, Olga Grechukhina, Yair J. Blumenfeld, Lawrence D. Platt, Joshua A. Copel, Christina S. Han
Summary: Despite standardized ultrasound training structure across the United States, there exists regional heterogeneity in fellow self-reported comfort with specific ultrasound techniques and chorionic villus sampling during maternal-fetal medicine fellowship training. Further optimization of fellowship ultrasound training, especially in advanced sonography and diagnostic procedures, is necessary.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2022)
Article
Medicine, General & Internal
Daniel Salehi, Katrin Fricke, Misha Bhat, Hakan Arheden, Petru Liuba, Erik Hedstrom
Summary: In this study, fetal cardiovascular magnetic resonance imaging was found to provide clinically useful information not available from fetal echocardiography, which has the potential to impact clinical decision-making in challenging cases of congenital heart defects. The imaging results were associated with mode of delivery, early postnatal care, and parental counseling.
Article
Obstetrics & Gynecology
Eran Barzilay, Arik Fux, Meirav Nezer, Michal Berkenstadt, Omer Bar-Yosef, Eldad Katorza
Summary: Fetal brain MRI can detect additional abnormalities in cases of isolated ventriculomegaly, with a higher chance of detecting abnormalities in cases of severe ventriculomegaly.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Clinical Neurology
Tally Lerman-Sagie, Ivana Pogledic, Zvi Leibovitz, Gustavo Malinger
Summary: This article discusses a practical approach to prenatal diagnosis of malformations of cortical development using dedicated neurosonography and MRI, focusing on intracranial imaging signs. Following the putative diagnosis by neurosonography and MRI, genetic studies can be supplemented for confirmation of MCD.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Acoustics
M. J. Rodriguez-Sibaja, J. Villar, E. O. Ohuma, R. Napolitano, S. Heyl, M. Carvalho, Y. A. Jaffer, J. A. Noble, M. Oberto, M. Purwar, R. Pang, L. Cheikh Ismail, A. Lambert, M. G. Gravett, L. J. Salomon, L. Drukker, F. C. Barros, S. H. Kennedy, Z. A. Bhutta, A. T. Papageorghiou
Summary: International ultrasound-based standards for fetal cerebellar growth and Sylvian fissure maturation were established based on a healthy fetal population with adequate growth and development at 2 years of age, indicating good agreement between empirical and smoothed centile curves.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Review
Medicine, General & Internal
Kasemsri Srisupundit, Suchaya Luewan, Theera Tongsong
Summary: Fetal heart failure is a condition where the fetal heart is unable to deliver sufficient blood flow to organs, leading to various complications. Fetal echocardiography is crucial in diagnosing FHF and its underlying causes.
Article
Acoustics
G. Malinger, A. Prabhu, A. Maroto Gonzalez, M. Brusilov, D. Kidron, R. Amster, R. Birnbaum, K. Krajden Haratz
Summary: This study aimed to demonstrate the potential utility of dedicated neurosonography in diagnosing fetal brain involvement in tuberous sclerosis complex. The results showed that dedicated neurosonography appeared to be effective and should be used as the first-line approach for diagnosing brain involvement in fetuses at risk of tuberous sclerosis complex.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Clinical Neurology
Rupa Radhakrishnan, Brandon P. Brown, David M. Haas, Yong Zang, Christina Sparks, Senthilkumar Sadhasivam
Summary: The study aimed to compare the differences in brain maturation, structure, and morphometry in fetuses exposed to opioids in utero with non-opioid exposed fetuses. The results showed that fetal anteroposterior cerebellar vermian dimension was smaller in the opioid exposed group, but there were no other abnormalities in brain maturation or major structural abnormalities.
JOURNAL OF NEURORADIOLOGY
(2022)
Review
Biotechnology & Applied Microbiology
Yanyu Chen, Zhuhao Wu, Joseph Sutlive, Ke Wu, Lu Mao, Jiabao Nie, Xing-Zhong Zhao, Feng Guo, Zi Chen, Qinqin Huang
Summary: Noninvasive prenatal diagnosis (NIPD) is a method of detecting genetic disorders related to the fetus before birth by analyzing markers in the peripheral blood of pregnant women. Fetal-nucleated red blood cells (fNRBCs) can be used as biomarkers for NIPD due to their unique ability to carry the complete genetic information of the fetus. Recent advances in NIPD technologies are focused on isolating and analyzing fNRBCs, using both conventional and novel methods such as micro-/nanomaterials and microfluidic chips. The identification and clinical diagnostic potential of fNRBCs are also discussed, along with the challenges and future directions of using fNRBCs in NIPD treatment guidelines.
JOURNAL OF NANOBIOTECHNOLOGY
(2022)
Article
Medicine, General & Internal
Ioana Cristina Rotar, Stefania Tudorache, Adelina Staicu, Roxana Popa-Stanila, Roxana Constantin, Mihai Surcel, Gabriela Corina Zaharie, Daniel Muresan
Summary: This study provides clinical experience on the imaging diagnosis, management, and postnatal outcome of neonates suspected of having ovarian cysts prenatally. The study found that ultrasound plays a major role in diagnosing fetal ovarian cysts.
Article
Obstetrics & Gynecology
C. de Barbeyrac, P. Roth, C. Noel, O. Anselem, A. Gaudin, C. Roumegoux, B. Azcona, C. Castel, M. Noret, E. Letamendia, J. Stirnemann, Y. Ville, A. Lapillonne, M-L Viallard, E. Kermorvant-Duchemin
Summary: This multicentre study investigated prenatal decision-making processes and birth plans in pregnancies amenable to perinatal palliative care. Only 10% of severe fetal anomalies eligible for termination of pregnancy involved perinatal palliative care plans. The study found that perinatal palliative care may not be a universal alternative to termination of pregnancy.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Clinical Neurology
Wei Jiang, Qiao Zuo, Jianmin Liu
Summary: This article reports a case in which the continuous observation of DVA rupture led to the formation of de novo AVM and hemodynamic aneurysm, suggesting that outflow disturbance may be the potential cause of AVM formation. Meanwhile, it emphasizes the importance of preserving the integrity of collecting veins in the treatment of DVA.
NEUROLOGICAL SCIENCES
(2022)
Article
Obstetrics & Gynecology
Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang
Summary: This article reports a case of recurrent pregnancies of skeletal dysplasia in a multiparity woman. Mutations in the ALPL gene were identified through trio whole exome sequencing, and the same heterozygous mutation was found in the mother and her normal phenotype daughter. The study suggests that whole exome sequencing can assist in identifying disease-causing variants that may not be recognized through routine prenatal diagnosis, providing important support for prenatal or pre-implantation diagnosis.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2022)
Article
Pediatrics
Granlee V. Nguyen, Luis F. Goncalves, Jennifer Vaughn, Neil Friedman, Jessica Wickland, Patricia Cornejo
Summary: We present a method for prenatal diagnosis of Poland-Mobius syndrome using both ultrasound and MRI. The diagnosis of Poland syndrome was based on the absence of pectoralis muscles, dextroposition of the fetal heart, and elevation of the left diaphragm. Associated brain anomalies, including ventriculomegaly and abnormalities in the posterior aspect of the brain stem, were identified as reliable markers for Mobius syndrome. Careful examination of the brain stem can aid in the prenatal diagnosis of Mobius syndrome.
PEDIATRIC RADIOLOGY
(2023)
Article
Clinical Neurology
M. Bekiesinska-Figatowska, P. Sobieraj, M. Pasieczna, J. Szymkiewicz-Dangel
Summary: There is a strong emphasis on early detection and treatment of tuberous sclerosis complex before seizure onset, which can be achieved through prenatal ultrasound and MR imaging. Cardiac rhabdomyomas can be detected during fetal ultrasound, while prenatal MR imaging can detect major cerebral manifestations.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Acoustics
R. Birnbaum, R. Barzilay, M. Brusilov, P. Acharya, G. Malinger, K. Krajden Haratz
Summary: This study aimed to provide a detailed description of the sonographic appearance and development of various fetal structures of the midbrain and hindbrain (MBHB) during the early second trimester. The study found that transvaginal neurosonography allows for a detailed assessment of MBHB in the early second trimester and provides reference data that may aid in the early detection of brain pathology involving MBHB.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin
Summary: Through case reports from two unrelated families, it was revealed that BCORL1 gene mutations may lead to major brain developmental abnormalities including hypoplastic corpus callosum, septal agenesis, and unilateral perisylvian polymicrogyria. The mothers of these patients were carriers of the mutated gene, indicating a potential influence of BCORL1 on brain development.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Roee Birnbaum, Ofer Markovitch, Tal Biron-shental, Debora Kidron, Liat Ben-Sira, Shira Litz Philipsborn, Eyal Reinstein
Summary: Pathogenic variants in the ZBTB18 gene have been found for the first time in a fetus, showing features such as intrauterine growth restriction, diminished long bones growth, single umbilical artery, and a short corpus callosum. The challenging diagnosis of this disorder highlights the importance of targeted follow-up and high clinical suspicion throughout pregnancy.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Daphna Link-Sourani, Netanell Avisdris, Shaul Harel, Liat Ben-Sira, Tuvia Ganot, Zoya Gordon, Ariel Many, Dafna Ben Bashat
Summary: Advanced MRI methods are used to assess human placenta to understand structure-function interplay and pregnancy risks. This study characterized ex-vivo human placental structure and function using MRI and identified imaging-markers for placentas at risk for dysfunction. Results showed correlation between placental function, umbilical cord centricity index, and birth weight, suggesting potential markers for identifying placental dysfunction risk.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Clinical Neurology
Omar Abdel-Mannan, Ainat Klein, Anat Bachar Zipori, Liat Ben-Sira, Aviva Fattal-valevski, Yael Hacohen, Hadas Meirson
Summary: This study presents a case of radiologically isolated longitudinally extensive optic neuritis in a 12-year-old female with positive serum AQP4-Ab. The patient was asymptomatic and showed resolution of imaging changes after immune therapy. The discussion highlights the pathogenicity of AQP4-Ab in sub-clinical disease and the need for prognostic biomarkers to guide optimal therapy for patients with AQP4-Ab NMOSD.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Genetics & Heredity
Gustavo Malinger, Karina Haratz Krajden, Roee Brinbaum, Erez Tsur, Racheli Berger, Mordechai Shohat
Summary: This study found that loss of function distal variants in the CCND2 gene can cause fetal microcephaly.
PRENATAL DIAGNOSIS
(2022)
Article
Acoustics
R. Hagege, K. Krajden Haratz, G. Malinger, L. Ben-Sira, Z. Leibovitz, D. Heron, L. Burglen, R. Birnbaum, S. Valence, B. Keren, L. Blumkin, J. -m. Jouannic, T. Lerman-Sagie, C. Garel
Summary: This retrospective multicenter study aimed to investigate the prenatal diagnosis of mild forms of tubulinopathy and define the ultrasound and MRI features that can facilitate this diagnosis. The main ultrasound criteria included midline distortion, ventricular asymmetry, dysmorphic and/or dilated frontal horn(s), and abnormal sulcation. The main MRI criteria were midline distortion, distortion of the cavum septi pellucidi, ventricular asymmetry, dilatation and/or distortion, dysmorphic and/or dilated frontal horn(s), and abnormal sulcation. Mutations were found in TUBB3, TUBB, TUBB2B, or TUBA1A genes. Most findings could be visualized on ultrasound. The prenatal diagnosis of mild tubulinopathy is challenging but important for prenatal counseling.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Acoustics
K. Krajden Haratz, R. Birnbaum, D. Kidron, J. Har-Toov, Y. Salemnick, M. Brusilov, G. Malinger
Summary: This retrospective study aimed to identify neurosonographic findings that can diagnose or highly suggest the presence of malformations of cortical development before 24 weeks of gestation. The study cohort included 20 fetuses, with a mean gestational age at diagnosis of 18.7 weeks. Familiarity with fetal brain anatomy and its early sonographic landmarks allowed for early diagnosis of these malformations.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Acoustics
D. Prayer, G. Malinger, L. De Catte, B. De Keersmaecker, L. F. Goncalves, G. Kasprian, S. Laifer-Narin, W. Lee, A. -E. Millischer, L. Platt, F. Prayer, D. Pugash, L. J. Salomon, M. Sanz Cortes, F. Stuhr, I. E. Timor-Tritsch, B. Tutschek, D. Twickler, N. Raine-Fenning
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Letter
Genetics & Heredity
Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger
PRENATAL DIAGNOSIS
(2023)
Article
Acoustics
G. Malinger, A. Prabhu, A. Maroto Gonzalez, M. Brusilov, D. Kidron, R. Amster, R. Birnbaum, K. Krajden Haratz
Summary: This study aimed to demonstrate the potential utility of dedicated neurosonography in diagnosing fetal brain involvement in tuberous sclerosis complex. The results showed that dedicated neurosonography appeared to be effective and should be used as the first-line approach for diagnosing brain involvement in fetuses at risk of tuberous sclerosis complex.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Genetics & Heredity
Noa Hourvitz, Alina Kurolap, Adi Mory, Karina Krajden Haratz, Dvora Kidron, Gustavo Malinger, Hagit Baris Feldman, Yuval Yaron
Summary: A Jewish couple received genetic counseling after terminating a pregnancy due to fetal ventriculomegaly. Trio exome sequencing identified a loss-of-function variant in the SMARCC1 gene inherited from the mother. The SMARCC1 gene was found to be associated with embryonic neurodevelopmental processes and is now considered a susceptibility gene for hydrocephalus.
PRENATAL DIAGNOSIS
(2023)
Article
Genetics & Heredity
Roee Birnbaum, Maya Kuperberg, Michael Brusilov, Igal Wolman, Gustavo Malinger, Karina Krajden Haratz
Summary: This study aims to investigate the development of the fetal brain during the early second trimester. The study provides detailed data on various components and anatomical variants of the fetal brain and their association with brain malformations. These findings can assist clinicians in assessing fetal brain development during the early weeks of the second trimester.
PRENATAL DIAGNOSIS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Netanell Avisdris, Daphna Link Sourani, Liat Ben-Sira, Leo Joskowicz, Gustavo Malinger, Simcha Yagel, Elka Miller, Dafna Ben Bashat
Summary: This study successfully differentiated hypo-/hypertelorism in fetuses using automatic biometric measurements and machine learning classification based on MRI. The results showed that the newly defined ratios and the ML multi-parametric classifier improved the accuracy of distinguishing abnormal from normal fetuses with the condition. The developed fully automatic method demonstrated high performance on varied clinical imaging data.
EUROPEAN RADIOLOGY
(2023)
Article
Obstetrics & Gynecology
Andres Malinger, Michael Brusilov, Daphna Mitzad Koresh, Mordechai Shohat, Gustavo Malinger
Summary: This article presents prenatal imaging of a fetus with severe eye anomalies, which have been diagnosed as a new variant mosaicism on the BCOR gene.
FETAL DIAGNOSIS AND THERAPY
(2022)