Results 141 to 150 of about 317,190 (282)

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Role of Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study describes the role of pre‐EXIT (Ex Utero Intrapartum Treatment) fetoscopic airway evaluation in fetuses with suspected airway obstruction. Methods Single center, retrospective, observational study including fetuses with suspected airway obstruction undergoing fetoscopic airway evaluation prior to EXIT between 2013 and 2025.
Daniel Sanin‐Ramirez, Joan Sabria, Josep M. Martinez, Mar Bennasar, Montserrat Izquierdo, Elisenda Eixarch, Eduard Gratacos   +6 more
wiley   +1 more source

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity. [PDF]

Prenat Diagn
Zhang M, Li J, Ren C, Liu Y, Bian W, Han X, Wang M, Chen X, Hu Y, Kan M, Liu L.   +10 more
europepmc   +1 more source

Chromosome Microarray and Undiagnosed Seizures in a Pediatric Patient [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2014
Angelika J, Dawson, Aizeddin A, Mhanni, Frances A, Booth, Lorne, Seargeant, Daniele, Bernier, Michelle, Tomiuk, Jessica N, Hartley, Michelle, Strecker, Karine, Hovanes   +8 more
openaire   +2 more sources

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

P699: Understanding prenatal chromosomal abnormalities: Importance of both chromosomal and microarray aberrations

Genetics in Medicine Open
Robert Best, Alexandra Arreola, Inder Gadi, Gloria Haskell, Bing Huang, Judith Knops, Andrea Penton, Karen Phillips, James Tepperberg, Stuart Schwartz   +9 more
doaj   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Insight into Essential and Complex Autism Spectrum Disorders: Clinical Characteristics, Chromosomal Microarray Analysis, and Risk Factors. [PDF]

Genes (Basel)
Tüysüz B, Çifçi Sunamak E, Durcan G, Öztürk B, Uludağ Alkaya D, Çulpan HC, Korkmaz MB, Doğangün B, Kıykım E.   +8 more
europepmc   +1 more source

Chromosome microarray analysis: A soothing guide [PDF]

Journal of Paediatrics and Child Health, 2018
openaire   +2 more sources