Review
Genetics & Heredity
Tingying Lei, Li Zhen, Xin Yang, Min Pan, Fang Fu, Jin Han, Lushan Li, Dongzhi Li, Can Liao
Summary: PPP2R1A-related neurodevelopmental disorder (NDD) is a rare genetic condition characterized by hypotonia, developmental delay, intellectual disability, agenesis of corpus callosum, ventriculomegaly, and dysmorphic features. This study reports on the prenatal diagnosis of PPP2R1A-related NDD in two fetuses using whole exome sequencing, which revealed pathogenic de novo mutations in the PPP2R1A gene. Prenatal diagnosis of this condition can expand the understanding of its fetal phenotype and facilitate counseling for prospective parents.
Review
Obstetrics & Gynecology
Filomena Giulia Sileo, Daniele Di Mascio, Giuseppe Rizzo, Massimo Caulo, Lucia Manganaro, Emma Bertucci, Sophie Masmejan, Marco Liberati, Alice D'Amico, Luigi Nappi, Danilo Buca, Tim Van Mieghem, Asma Khalil, Francesco D'Antonio
Summary: This study found that the rate of associated anomalies detected exclusively at fetal MRI in isolated ACC undergoing neurosonography is lower than previously reported. Cortical and posterior fossa anomalies are among the most common anomalies missed at ultrasound.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2021)
Article
Genetics & Heredity
Ting-ying Lei, Qin She, Fang Fu, Li Zhen, Ru Li, Qiu-xia Yu, Dan Wang, Ying-si Li, Ken Cheng, Hang Zhou, Xin Yang, Min Pan, Dong-zhi Li, Can Liao
Summary: This study used exome sequencing (ES) to investigate callosal anomalies (CA) in fetuses, and found that ES can be used diagnostically to define the molecular defects underlying unexplained CA. Most isolated CA patients with negative genetic test results will have a favorable prognosis in early childhood.
PRENATAL DIAGNOSIS
(2022)
Article
Genetics & Heredity
Frederic Tran Mau-Them, Julian Delanne, Anne-Sophie Denomme-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sebastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clement Prouteau, Estelle Colin, Agnes Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Melanie Fradin, Alinoe Lavillaureix, Chloe Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Mederic Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frederique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Summary: This study describes the implementation of exome sequencing in prenatal diagnosis in France after the detection of anomalies on prenatal ultrasound. The study found that trio-exome sequencing provided a high diagnostic yield with a median turnaround time of 28 days. Trio-exome sequencing and chromosomal microarray analysis were concordant for identifying pathogenic CNVs.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Sebastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaelle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Summary: The study found that KDM5B gene variants may be associated with developmental delay, autism spectrum disorders, and facial dysmorphism. It is noteworthy that these variants may also lead to agenesis of the corpus callosum, indicating that the KDM5B gene should be included in gene panels to clarify the etiology of ACC.
Article
Medical Laboratory Technology
Qin She, Erfang Tang, Cui Peng, Li Wang, Dandan Wang, Weihe Tan
Summary: Corpus callosum abnormality (CCA) can result in epilepsy, moderate to severe neurologic or mental retardation. The prognosis of CCA is closely linked to genetic factors. This study found that whole exome sequencing (WES) significantly improves the detection rate of genetic etiology of CCA, and for patients with negative results from CNV-seq or CMA, further WES testing is recommended.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Neurosciences
Yurui Guo, Alpen Ortug, Rodney Sadberry, Arthur Rezayev, Jacob Levman, Tadashi Shiohama, Emi Takahashi
Summary: This study aimed to identify symptom-related neuroimaging biomarkers for patients with dysgenesis of the corpus callosum (dCC), revealing differential links between brain volumes and structures and various symptoms. Specifically, left hemisphere GI abnormality could serve as a predictor for the disease.
Review
Genetics & Heredity
Huda B. Al-Kouatly, Kavya Shivashankar, Matthew H. Mossayebi, Mona Makhamreh, Elizabeth Critchlow, Zimeng Gao, Luther-King Fasehun, Fowzan S. Alkuraya, Erin E. Ryan, Madhuri Hegde, Sascha Wodoslawsky, Joel Hughes, Seth I. Berger
Summary: This study evaluated the use of prenatal exome sequencing (ES) in diagnosing non-immune hydrops fetalis (NIHF) and its association with additional clinical findings and history. The results showed a high diagnostic rate for NIHF using ES, regardless of associated ultrasound findings, history of recurrence, or consanguinity.
Review
Medicine, General & Internal
Montse Pauta, Raigam Jafet Martinez-Portilla, Antoni Borrell
Summary: The study investigated the diagnostic yield of exome sequencing (ES) in fetuses with recurrent fetal structural anomalies, showing a 40% incremental performance in identifying pathogenic variants. The majority of newly identified diseases exhibited a recessive inheritance pattern, with some variants found in homozygosity.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Acoustics
H. Mahallati, A. Sotiriadis, C. Celestin, A. E. Millischer, P. Sonigo, D. Grevent, N. O'Gorman, N. Bahi-Buisson, T. Attie-Bitach, Y. Ville, L. J. Salomon
Summary: Objective fetal abnormalities of the corpus callosum have been reported in prenatal imaging literature since 1985 and pose challenges for both patients and fetal medicine specialists, especially when isolated. A systematic review was conducted to assess the heterogeneity in terminology and definitions used for abnormalities other than complete agenesis of the corpus callosum. The study found that there is much greater heterogeneity in nomenclature and definition of corpus callosum anomalies in prenatal literature compared to postnatal literature, making it difficult to develop large multicenter cohorts to better understand genetic associations and outcomes of patients with these anomalies.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Pieta Shakes, Andrew Cashin, John Hurley
Summary: The objective of prenatal screening and diagnosis is to support parents preparing to deliver a baby with medical needs or disabilities, but research shows that this objective is not fully realized. The diagnosis of agenesis of the corpus callosum, characterized by uncertainty in various aspects, can cause distress for expectant mothers. This study explores the maternal experience of continuing pregnancy after such a prenatal diagnosis and emphasizes the need for healthcare professionals to have awareness and provide support throughout the process.
SOCIAL SCIENCE & MEDICINE
(2023)
Article
Medicine, General & Internal
Andres Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Z. Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa L. Martin
Summary: The molecular diagnostic yield of exome sequencing among patients with cerebral palsy was found to be 32.7% in a cohort of pediatric patients and 10.5% in a cohort of adult patients. Further research is needed to understand the clinical implications of these findings. This study provides insights into the prevalence of pathogenic and likely pathogenic variants detected in children and adults with cerebral palsy undergoing genetic testing through exome sequencing.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Review
Acoustics
M. Pauta, R. J. Martinez-Portilla, A. Borrell
Summary: This study compares the diagnostic yield of exome or genome sequencing (ES/GS) with chromosomal microarray analysis (CMA) in fetuses with increased nuchal translucency (NT). The results show a 4% incremental diagnostic yield of ES/GS over CMA in fetuses with increased NT and no concomitant anomalies. Additionally, some fetuses may have genetic disorders such as Noonan syndrome.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Review
Medicine, General & Internal
Barbara Scelsa
Summary: Brain abnormalities in fetal life are receiving more attention, and child neurologists play a crucial role in fetal consultations. Specific training in fetal neurology is necessary. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are commonly seen in antenatal neurological consultations.
Article
Anatomy & Morphology
Lisa Bartha-Doering, Ernst Schwartz, Kathrin Kollndorfer, Florian Ph. S. Fischmeister, Astrid Novak, Georg Langs, Harald Werneck, Daniela Prayer, Rainer Seidl, Gregor Kasprian
Summary: Complete agenesis of the corpus callosum (ACC) is associated with impaired functions in specific language domains, while partial ACC does not show significant effects; ACC children performed significantly worse than controls in verbal fluency and naming; Stronger functional connectivity between left and right temporal areas is associated with better language abilities in the ACC group.
BRAIN STRUCTURE & FUNCTION
(2021)
