Results 161 to 170 of about 54,834 (268)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss. [PDF]

Front Genet, 2023
Liao N, Zhang Z, Liu X, Wang J, Hu R, Xiao L, Yang Y, Lai Y, Zhu H, Li L, Liu S, Wang H, Hu T.   +12 more
europepmc   +1 more source

Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age [PDF]

, 2019
Xiaoqing Wu, Gang An, Xiaorui Xie, Linjuan Su, Meiying Cai, Xuemei Chen, Ying Li, Na Lin, Deqin He, Meiying Wang, Hailong Huang, Liangpu Xu   +11 more
openalex   +1 more source

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [PDF]

, 2023
Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela Caldas Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg   +29 more
openalex   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted between April‐2017 and March‐2021. In total, 46,007 women received a normal cfDNA screening result.
Adriana I. Iglesias, Diane Van Opstal, Florentine F. Thurik, Mark Drost, Marjolein J. A. Weerts, Marieke Joosten, Karin E. M. Diderich, Vyne van der Schoot, Myrthe van den Born, Robert‐Jan H. Galjaard, Stefanie van Veen, Eveline Goedegebuur‐Zwalua, Sabina de Weerd, Anneke Dijkman, Dimitri Papatsonis, Jérôme M. J. Cornette, Sander Galjaard, Maarten F. C. M. Knapen, Krista Prinsen, Attie T. J. I. Go, Kyra E. Stuurman, Malgorzata I. Srebniak   +21 more
wiley   +1 more source

P01.01: The role of single‐nucleotide polymorphism chromosomal microarray analysis in evaluation of early pregnancy loss: a prospective study [PDF]

, 2019
Suzy Kim, Sun Young Shin, I. Park, Joongwon Shin   +3 more
openalex   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications. [PDF]

Front Genet
Xiao H, Xiao J, Zhang H, Huang S, Lu Q, Yuan H, Zou Y, Yang B, Liu Y.   +8 more
europepmc   +1 more source

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. [PDF]

Mol Genet Genomic Med, 2023
Cucinotta F, Lintas C, Tomaiuolo P, Baccarin M, Picinelli C, Castronovo P, Sacco R, Piras IS, Turriziani L, Ricciardello A, Scattoni ML, Persico AM.   +11 more
europepmc   +1 more source