Results 1 to 10 of about 11,526 (281)

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency [PDF]

Clinical Case Reports, 2021
Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here, we report a case of PS type 2 with increased nuchal translucency in early trimester.
Zhi‐yang Hu, Sheng‐mou Lin, Meng‐jie Zhu, Cindy Ka‐Yee Cheung, Tao Liu, Jin Zhu   +5 more
doaj   +2 more sources

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population‐based retrospective study in Ontario, Canada [PDF]

Acta Obstetricia et Gynecologica Scandinavica
Introduction Nuchal translucency prenatal ultrasound is widely used to screen for chromosomal abnormalities. An elevated nuchal translucency has been associated with adverse outcomes such as pregnancy loss; however, extant studies investigating these ...
Kara Bellai‐Dussault, Shelley D. Dougan, Deshayne B. Fell, Carolina Lavin Venegas, Julian Little, Lynn Meng, Nan Okun, Mark Walker, Christine M. Armour, Beth K. Potter   +9 more
doaj   +2 more sources

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of terminal 2q deletion and distal 10q duplication of paternal origin in a fetus associated with increased nuchal translucency and abnormal maternal serum screening results.
Chih-Ping Chen, Jui-Der Liou, Kok-Min Seow, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang   +9 more
doaj   +2 more sources

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency [PDF]

Molecular Genetics & Genomic Medicine
Background To evaluate the utility of prenatal whole exome sequencing (WES) in cases of isolated increased nuchal translucency (NT). Methods Retrospective analysis of the prenatal WES results in fetuses with increased NT (≥ 3.0 mm) and normal fetal ...
Hui Wang, Caiqun Luo, Qian Geng, Xiaoxin Xu, Yang Liu   +4 more
doaj   +2 more sources

Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Increased nuchal translucency (NT) is associated with an increased risk for genetic disorders. The aim of this study was to investigate the value of whole‐exome sequencing (WES) in detecting genetic abnormalities for fetuses with isolated ...
Chunge Cao, Fang Liu, Yan Yang, Qing Zhang, Junfang Huang, Xinhong Liu   +5 more
doaj   +2 more sources

Valor preditivo do resultado fetal da dopplervelocimetria de ducto venoso entre a 11ª e a 14ª semanas de gestação Predictive value for fetal outcome of Doppler velocimetry of the ductus venosus between the 11th and the 14th gestation week [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2008
OBJETIVO: estudar o valor da dopplervelocimetria do ducto venoso (DV) entre a 11º e a 14º semanas de gestação, associado à medida da translucência nucal (TN), na detecção de resultado fetal adverso.
Carlos Alberto Gollo, Carlos Geraldo Viana Murta, Luiz Cláudio Bussamra, Renato Martins Santana, Antônio Fernandes Moron   +4 more
doaj   +4 more sources

Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency. [PDF]

Mol Cytogenet, 2023
Zhou H, Yang X, Yi C, Zhong H, Yuan S, Pan M, Li D, Liao C.   +7 more
europepmc   +3 more sources

Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes. [PDF]

JAMA Netw Open
Bellai-Dussault K, Dougan SD, Fell DB, Little J, Meng L, Okun N, Walker MC, Armour CM, Potter BK.   +8 more
europepmc   +2 more sources

Pregnancy Outcome of Abnormal Nuchal Translucency: A Systematic Review [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Nuchal Translucency (NT) is the sonographic form of subcutaneous gathering of liquid behind the foetal neck in the first trimester of pregnancy.
NASIBEH ROOZBEH, MARYAM AZIZI, LEILI DARVISH   +2 more
doaj   +1 more source

Fetal nuchal edema and developmental anomalies caused by gene mutations in mice

Frontiers in Cell and Developmental Biology, 2022
Fetal nuchal edema, a subcutaneous accumulation of extracellular fluid in the fetal neck, is detected as increased nuchal translucency (NT) by ultrasonography in the first trimester of pregnancy.
Akira Sugiyama, Masanori Hirashima
doaj   +1 more source