Results 181 to 190 of about 113,215 (275)

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis. [PDF]

Front Genet
Huang S, Wu H, She L, Liu L.
europepmc   +1 more source

Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect. [PDF]

Ultrasound Obstet Gynecol, 2023
Zemet R, Krispin E, Johnson RM, Kumar NR, Westerfield LE, Stover S, Mann DG, Castillo J, Castillo HA, Nassr AA, Sanz Cortes M, Donepudi R, Espinoza J, Whitehead WE, Belfort MA, Shamshirsaz AA, Van den Veyver IB.   +16 more
europepmc   +1 more source

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities [PDF]

, 2012
Francesco Fiorentino, S Napoletano, Fiorina Caiazzo, Mariateresa Sessa, Sara Bono, L. Spizzichino, Anthony T. Gordon, Andrea Nuccitelli, Giuseppe Rizzo, Marina Baldi   +9 more
openalex   +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

Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder [PDF]

, 2015
Ellen Giarelli, Marian Reiff
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

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

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing. [PDF]

Eur J Med Res
Zhuang J, Fu W, Gu L, Ye X, Wang J, Chen C.   +5 more
europepmc   +1 more source