Results 61 to 70 of about 22,195,386 (187)

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification

Diagnostics
Background/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality.
Abdullatif Bakır, Mustafa Tarık Alay, Umut Can Tekbaş, Sadun Sucu, İrem Kalay, Hanife Saat   +5 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Combined Application Value of Chromosome Karyotype Analysis and Chromosomal Microarray Analysis (CMA) in Prenatal Diagnosis

Objective: Chromosome karyotype analysis is the gold standard for prenatal diagnosis yet carries multiple limitations. Chromosomal microarray analysis (CMA) can overcome these drawbacks to a certain extent.
Fan, Q. M., Zhou, Y. Y., Zhang, Q. E., Huang, L.   +3 more
core   +1 more source

Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios

, 2023
Objectives To evaluate the clinical utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in foetuses with oligohydramnios.Methods In this retrospective study, 126 fetuses with oligohydramnios at our centre from 2018 to 2021 ...
Jing Wu, Xiaomei Shi, Chen Li, LiHua Yu, Hongke Ding, Ling Liu, Juan Zhu   +6 more
core   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Chromosomal Microarray Testing and Epilepsy

, 2014
Investigators at the Boston Children's Hospital, MA, and other centers evaluated the role of copy number variants (CNVs) detected using chromosomal microarray (CMA) testing in 805 patients seen between 2006 and 2011 and having ICD-9 codes for epilepsy or
John J Millichap, J Gordon Millichap
core   +1 more source

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

International Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

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

Copy number status and fragment orientation as revealed by chromosomal microarray (CMA) and whole genome sequencing (WGS) of the complex rearrangements.

, 2018
Copy number status and fragment orientation as revealed by chromosomal microarray (CMA) and whole genome sequencing (WGS) of the complex rearrangements.
Jesper Eisfeldt (5007209), Jesper Ottosson (5954048), Mads Bak (181535), Max Käller (8703), Daniel Nilsson (29307), Valtteri Wirta (7590), Francesco Vezzi (107361), Maria Pettersson (764125), Tina Duelund Hjortshøj (5954054), Lusine Nazaryan-Petersen (5954039), Lovisa Lovmar (5954045), Johanna Lundin (5954042), Cathrine Jespersgaard (331782), Josephine Wincent (2794045), Niels Tommerup (118532), Jelena Gacic (5954051), Ann Nordgren (507950), Elisabeth Syk Lundberg (5954063), Zeynep Tümer (353517), Outi Mäkitie (317072), Laura Pignata (5954060), Anna Lindstrand (764128), Agne Lieden (5663917), Rayan Houssari (5954057)   +23 more
core   +1 more source

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies.

PLoS ONE
BackgroundPathogenic and likely pathogenic copy number variations (p/lpCNVs) detected through chromosomal microarray analysis (CMA) are crucial for understanding the etiology of birth defects. However, due to incomplete penetrance and variable phenotypic
Shiwei Ren, Wenjing Gu, Ting Liu, Jinyan Yan, Haixin Dong, Chuchu Niu, Lizhu Guo, Huan Guo   +7 more
doaj   +1 more source