Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
The fetal phenotype of MPDZ-associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior...
March 18, 2024: Prenatal Diagnosis
#2
JOURNAL ARTICLE
D Paladini, G Biancotto, F Della Sala, P V Acharya
OBJECTIVES: Our objectives were: (1) to assess the visualization rate of the choroid bar in a consecutive series of 306 first trimester scans; (2) to verify - in this cohort of fetuses - the normalcy of the posterior fossa later in pregnancy; (3) to confirm the non-visualization of the choroid bar in a retrospective series of fetuses with posterior fossa malformations. METHODS: The study include a prospective and a retrospective series. The former includes 306 fetuses undergoing routine obstetric ultrasound at our Unit both in the first and the second trimester over the last 6 months, the latter includes 12 cases of posterior fossa malformations...
December 25, 2023: Ultrasound in Obstetrics & Gynecology
#3
JOURNAL ARTICLE
Adhi Pribadi, Amillia Siddiq, Annisa Dewi Nugrahani, Dhanny Primantara Johari Santoso
BACKGROUND Hypoplastic left heart syndrome (HLHS) is a complex left-sided obstructive congenital cardiac condition with several variants. This report is of 5 cases with varying morphology of HLHS diagnosed by fetal prenatal ultrasound at the 4-chamber view (4CV) level. CASE REPORT Five cases were referred by obstetrics and gynecology specialists with preliminary information on visible congenital abnormalities in the third trimester. Fetal echocardiography showed that several morphological variants of HLHS were found...
October 26, 2023: American Journal of Case Reports
#4
JOURNAL ARTICLE
P Volpe, V De Robertis, T Fanelli, G Volpe, C Olivieri, S Boito, N Persico
OBJECTIVE: To assess the role of the choroid plexus (CP) of the fourth ventricle (4V) in fetuses with an open 4V and a normal cerebellar vermis. METHODS: Two groups of patients were recruited in two fetal medicine referral centers. The prospectively collected control group included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome, recruited in the period between 2019 and 2022...
December 2023: Ultrasound in Obstetrics & Gynecology
#5
JOURNAL ARTICLE
Yu Hu, Lijuan Sun, Li Feng, Jingjing Wang, Yantong Zhu, Qingqing Wu
BACKGROUND: To evaluate the role of a standardized first-trimester scan in screening different kinds of central nervous system malformations and to report a 3-year experience from a tertiary center using an unselected cohort. METHODS: This was a retrospective analysis of prospectively collected data from a single center evaluating first-trimester scans with predesigned standardized protocols performed between 1 May 2017 and 1 May 2020, involving 39,526 pregnancies...
May 3, 2023: BMC Pregnancy and Childbirth
#6
JOURNAL ARTICLE
Michael Aertsen
In open spina bifida we studied the use of MRI for the assessment of the posterior fossa and prevalence of supratentorial anomalies before and after in utero repair. New postprocessing techniques were applied to evaluate fetal brain development in this population compared to controls. In fetuses with congenital diaphragmatic hernia, we evaluated the brain development in comparison to controls. Diffusion weighted imaging was applied to study difference between fetuses with proven first trimester cytomegalovirus infection and controls...
2022: Journal of the Belgian Society of Radiology
#7
JOURNAL ARTICLE
Li Feng, Lijuan Sun, Jingjing Wang, Congxin Sun, Lijuan Lu, Zhikun Zhang, Yu Hu, Qingqing Wu
BACKGROUND: To establish the normal reference ranges for parameters related to the fetal posterior fossa in the first trimester (11 ~ 13+6 weeks of gestation) and to analyze the relationship between them and crown-rump length (CRL) among the Chinese population. METHODS: Singleton pregnancies of 11 ~ 13+6 weeks (CRL:45 ~ 84 mm) with both parents from China were randomly selected from January 2021 to November 2021. The related parameters of the posterior fossa including cisterna magna (CM), intracranial translucency (IT), brain stem (BS), brain stem to the occipital bone (BSOB), and brain stem/brain stem to occipital bone (BS/BSOB) were evaluated and measured in nuchal translucency (NT) mid-sagittal section clearly by an experienced sonographer (operator 1)...
October 10, 2022: BMC Pregnancy and Childbirth
#8
JOURNAL ARTICLE
Patrycja Piwowarczyk, Diana Massalska, Izabela Obodzińska, Sylwia Gawlik Zawiślak, Julia Bijok, Anna Kucińska-Chahwan, Tomasz Roszkowski
We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities were seen and in one hypoplastic right ventricle was diagnosed at the first trimester scan. Defects of the posterior fossa (62% of foetuses; 13/21) and left diaphragmatic hernia (29% of foetuses; 6/21) are the most frequently reported prenatal findings in ES syndrome. No pattern of specific prenatal ultrasound markers of ES exists...
September 1, 2022: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
#9
EDITORIAL
Nicolae Gica, Anca Maria Panaitescu, Corina Gica, Andreea Dumitru, Radu Botezatu, Gheorghe Peltecu, Ana Maria Vayna
Prenatal sonographic assessment of the posterior fossa in the mid-sagittal plane at 11-14 weeks' gestation has been highlighted as an essential diagnostic step by the current literature. This approach is used for the early detection of open spina bifida during the first trimester by analyzing the three spaces of the posterior fossa: brain stem, the fourth ventricle and cisterna magna. Abnormal size of fetal posterior fossa spaces is an important sign in the diagnosis of fetuses with central nervous system malformation and needs to be submitted for differential diagnosis when any alterations are observed...
June 2022: Mædica
#10
Shreya Goenka, K Sahithi, Chinmayee Ratha
Introduction: Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful. Case Report: Our patient a primigravida with 19 weeks 6 days gestation was referred for micrognathia and polyhydramnios...
August 2022: Journal of Obstetrics and Gynaecology of India
#11
Arushi Yadav, Chanchal Singh, Savita Dagar, Aditi Shastri, Ritika Prakash, Seema Thakur
Antenatal posterior fossa cystic lesions are intimidating due to overlapping imaging features of benign and severe malformations. Sonographic assessment of the posterior fossa with good resolution median sagittal and axial views, either primary or secondarily reconstructed, plays the lead role in antenatal evaluation, further enhanced when sequential assessments are added. We present 10 cases of fetal posterior fossa cystic lesions diagnosed in the first and second trimesters that were sequentially analyzed and followed up till delivery or termination...
June 22, 2022: Journal of Clinical Ultrasound: JCU
#12
COMMENT
David N Jackson
No abstract text is available yet for this article.
November 2021: Journal of Clinical Ultrasound: JCU
#13
JOURNAL ARTICLE
Mucize Eric Ozdemir, Oya Demirci, Habibe Ayvaci Tasan, Karolin Ohanoglu, Munip Akalin
PURPOSE: We aimed to investigate the value of posterior fossa ultrasonography measurements in predicting fetal posterior fossa anomaly at 11-14 weeks of gestation. METHODS: The study was performed at Zeynep Kamil Women and Children's Diseases Training and Research Hospital. Measurements were made in two groups: the control group consisted of 328 fetuses with normal postnatal outcome and the study group consisted of 22 fetuses with enlarged 4th ventricle. In the study group, we questioned the value of intracranial translucency (IT) and brainstem (BS) measurements and the BS/brainstem-to-occipital bone (BSOB) ratio in order to predict possible posterior fossa anomalies that may be identified in advanced gestational weeks...
November 2021: Journal of Clinical Ultrasound: JCU
#14
MULTICENTER STUDY
P Volpe, R De Robertis, T Fanelli, S Boito, G Volpe, C Votino, N Persico, R Chaoui
OBJECTIVE: To evaluate whether in fetuses with open spina bifida (OSB) the tentorium can be seen to be displaced downwards and vertically oriented by the time of the 11-13-week scan and whether this is reflected in an alteration of the brainstem-tentorium (BST) angle. METHODS: The study population was recruited between 2015 and 2020 from three fetal medicine referral centers and comprised a control group and a study group of pregnancies with OSB. The control group was recruited prospectively and included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome...
January 2022: Ultrasound in Obstetrics & Gynecology
#15
REVIEW
Elka Miller, Gunes Orman, Thierry A G M Huisman
Prenatal ultrasound (US) is the first prenatal imaging tool for screening and evaluation of posterior fossa malformations since it is noninvasive, widely available, and safe for both mother and child. Fetal MRI is a widely used secondary technique to confirm, correct, or complement questionable US findings and plays an essential role in evaluating fetuses with suspected US findings and /or positive family history. The main sequences of fetal MRI consist of T2-weighted (T2w) ultrafast, single-shot sequences...
July 2021: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
#16
JOURNAL ARTICLE
P Volpe, V De Robertis, G Volpe, S Boito, T Fanelli, C Olivieri, C Votino, N Persico
OBJECTIVE: To describe the sonographic appearance and position of the choroid plexus of the fourth ventricle (4V-CP) between 12 and 21 weeks' gestation in normal fetuses and in fetuses with Dandy-Walker malformation (DWM) or Blake's pouch cyst (BPC). METHODS: The study population comprised 90 prospectively recruited normal singleton pregnancies and 41 pregnancies identified retrospectively from our institutional database that had a suspected posterior fossa anomaly at 12-13 weeks' gestation based on the ultrasound finding of abnormal hindbrain spaces...
October 2021: Ultrasound in Obstetrics & Gynecology
#17
Kavinda Dayasiri, Vijayakumary Thadchanamoorthy
PHACE syndrome is a rare disorder of vasculogenesis that occurs during the first trimester of pregnancy. The disorder commonly presents with posterior fossa brain anomalies and coarctation of aorta/arterial anomalies and is predominantly seen in female patients. Herein, we report a male child with PHACE syndrome who had several less common features such as cortical dysplasia, retinal degeneration, and microphthalmia. The diagnosis of PHACE syndrome was confirmed based on revised diagnostic criteria and by the presence of one major criterion and two minor criteria in addition to >5 cm haemangioma...
January 26, 2021: Curēus
#18
JOURNAL ARTICLE
Mona Elena Zvanca, Alexandra Munteanu, Mihaela Bot, Aida Petca, Dragos Nemescu
Posterior fossa ultrasound appearance may offer clues for brain anomalies as early as the first trimester. The purpose of the study was to find an easy, reproducible method to examine the posterior fossa. From January 2017 to March 2018, 132 consecutive pregnancies presenting for first-trimester screening, were selected at 11-14 weeks' gestation. An oblique axial view of the fetal head was routinely achieved with visualization of the posterior fossa, wherein the cisterna magna (CM) and the fourth ventricle (V4) anteroposterior diameter was measured...
September 2020: Experimental and Therapeutic Medicine
#19
JOURNAL ARTICLE
Kulandaimanuvel Antony Michealraj, Sachin A Kumar, Leo J Y Kim, Florence M G Cavalli, David Przelicki, John B Wojcik, Alberto Delaidelli, Andrea Bajic, Olivier Saulnier, Graham MacLeod, Ravi N Vellanki, Maria C Vladoiu, Paul Guilhamon, Winnie Ong, John J Y Lee, Yanqing Jiang, Borja L Holgado, Alex Rasnitsyn, Ahmad A Malik, Ricky Tsai, Cory M Richman, Kyle Juraschka, Joonas Haapasalo, Evan Y Wang, Pasqualino De Antonellis, Hiromichi Suzuki, Hamza Farooq, Polina Balin, Kaitlin Kharas, Randy Van Ommeren, Olga Sirbu, Avesta Rastan, Stacey L Krumholtz, Michelle Ly, Moloud Ahmadi, Geneviève Deblois, Dilakshan Srikanthan, Betty Luu, James Loukides, Xiaochong Wu, Livia Garzia, Vijay Ramaswamy, Evgeny Kanshin, María Sánchez-Osuna, Ibrahim El-Hamamy, Fiona J Coutinho, Panagiotis Prinos, Sheila Singh, Laura K Donovan, Craig Daniels, Daniel Schramek, Mike Tyers, Samuel Weiss, Lincoln D Stein, Mathieu Lupien, Bradly G Wouters, Benjamin A Garcia, Cheryl H Arrowsmith, Poul H Sorensen, Stephane Angers, Nada Jabado, Peter B Dirks, Stephen C Mack, Sameer Agnihotri, Jeremy N Rich, Michael D Taylor
Posterior fossa A (PFA) ependymomas are lethal malignancies of the hindbrain in infants and toddlers. Lacking highly recurrent somatic mutations, PFA ependymomas are proposed to be epigenetically driven tumors for which model systems are lacking. Here we demonstrate that PFA ependymomas are maintained under hypoxia, associated with restricted availability of specific metabolites to diminish histone methylation, and increase histone demethylation and acetylation at histone 3 lysine 27 (H3K27). PFA ependymomas initiate from a cell lineage in the first trimester of human development that resides in restricted oxygen...
June 11, 2020: Cell
#20
JOURNAL ARTICLE
Barbara Pertl, Sophie Eder, Christina Stern, Sarah Verheyen
Fetal neurosonography and the assessment of the posterior fossa have gained in importance during the last 2 decades primarily due to the development of high-resolution ultrasound probes and the introduction of 3 D sonography. The anatomical development of the posterior fossa can be visualized well with the newest ultrasound technologies. This allows better knowledge of the anatomical structures and helps with understanding of the development of malformations of the posterior fossa. In this article the longitudinal development of the posterior fossa structures will be reviewed...
December 2019: Ultraschall in der Medizin
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
