Results 161 to 170 of about 48,766 (300)

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen, Heleen H. Arts, Erica Schollenberg, Samantha Kinley, Erika Aberg, Jo‐Ann K. Brock   +5 more
wiley   +1 more source

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 more
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam

The Application of Clinical Genetics
Sang Tien Trieu,1 Minh Duc Pham,2 Hoang Le,3 Hien Van Vo,4 Phong Van Nguyen,1 Tuan Van Tran,2 Nhat Ngoc Nguyen,2 Son The Trinh2 1Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, Vietnam; 2Military Institute of ...
Trieu ST, Pham MD, Le H, Vo HV, Nguyen PV, Tran TV, Nguyen NN, Trinh ST   +7 more
doaj  

Karyotyp [PDF]

, 2018
openaire   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

Karyotyping [PDF]

, 2020
openaire   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E. M. Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak   +10 more
wiley   +1 more source

Advances and Challenges in Fusion Gene Detection in Acute Leukemia. [PDF]

Ann Lab Med
Kim SY.
europepmc   +1 more source

Miscarriage Tissue Research: Still in Its Infancy. [PDF]

Life (Basel)
Lagerwerf RE, Kox L, Rousian M, De Bakker BS, Dawood Y.   +4 more
europepmc   +1 more source