Results 91 to 100 of about 1,997,745 (357)

Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

Diagnostics, 2012
Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy.
Carmen Comas, Mónica Echevarria, María Ángeles Rodríguez, Ignacio Rodríguez, Bernat Serra, Vincenzo Cirigliano   +5 more
doaj   +1 more source

Subdivision of IIIC Stage for Endometrioid Carcinoma to Better Predict Prognosis and Treatment Guidance

Frontiers in Oncology, 2020
Objective: The prognostic value of Fédération Internationale de Gynécologie et d'Obstétrique (FIGO) IIIC staging in endometrioid carcinoma patients remains debatable.
Li Wen, Yanzhen Zhang, Siyuan Chen, Jingjing Wang, Wensheng Hu, Guansheng Zhong   +5 more
doaj   +1 more source

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

BMC Pregnancy and Childbirth, 2021
Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu   +6 more
doaj   +1 more source

Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals

BMC Pregnancy and Childbirth, 2018
BackgroundThe introduction of non-invasive prenatal testing (NIPT) for foetal aneuploidies is currently changing the field of prenatal screening in many countries. As it is non-invasive, safe and accurate, this technique allows for a broad implementation
A. Kater-Kuipers, E. M. Bunnik, I. D. de Beaufort, R. Galjaard   +3 more
semanticscholar   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

First trimester prenatal screening biomarkers and gestational diabetes mellitus: A systematic review and meta-analysis

PLoS ONE, 2018
Biomarkers commonly assessed in prenatal screening have been associated with a number of adverse perinatal and birth outcomes. However, it is not clear whether first trimester measurements of prenatal screening biomarkers are associated with subsequent ...
B. M. Donovan, Nichole L. Nidey, E. Jasper, Jennifer G. Robinson, W. Bao, A. Saftlas, K. Ryckman   +6 more
semanticscholar   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss

BMC Medical Genomics
Background Hereditary hearing loss (HL) is a highly heterogeneous disorder that follows various inheritance patterns. Variants of MYO6 gene in DFNA22 are characterised by progressive post-lingual sensorineural HL of varying severity. Patients and methods
Jing Wang, Qing-Wen Zhu, Ai-Ming Cui, Hai-qin Lou   +3 more
doaj   +1 more source

Construction and validation of a preimplantation kinship identification model using ultra-low-depth whole genome sequencing

iScience
Summary: Errors during in vitro fertilization (IVF) workflows pose significant risks; yet, existing quality control measures remain insufficient. Herein, we developed a preimplantation full-sibling relationship identification (PFSRI) model using ultra ...
Jian Lu, Jie Lin, Rong Hu, Feng Wu, Yi Li, Haisheng Huang, Shijie Wang, Miao Tian, Yiming Qi, Xin Zhao, Yangyi Chen, Jing Wu   +11 more
doaj   +1 more source

Pregnant women's and their partners' perception of an information model on prenatal screening

, 2012
Objective: Extended verbal information on prenatal screening was given when combined ultrasound and biochemistry screening test was offered at Örebro County Council, Sweden, in 2008. The aim of this study was to describe pregnant women's and her partners'
Wätterbjörk, Inger,, Blomberg, Karin,, Sahlberg-Blom, Eva,, Nilsson, Kerstin,   +3 more
core   +1 more source