Results 21 to 30 of about 189,771 (305)

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Frontiers in Genetics, 2022
The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental ...
Weigang Ji, Xiangtian Kong, Honggang Yin, Jian Xu, Xueqian Wang, Xueqian Wang   +5 more
doaj   +1 more source

Role of biological rhythm dysfunction in the development and management of bipolar disorders: a review

General Psychiatry, 2020
Disturbance of biological rhythms contributes to the onset of bipolar disorders and is an important clinical feature of the condition. To further explore the role of biological rhythms in bipolar disorders, 95 English articles published between 1968 and ...
Yiming Chen, Wu Hong
doaj   +1 more source

Treatment for congenital toxoplasmosis: finding out what works [PDF]

, 2009
Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R
core   +3 more sources

Experts' views on the implementation of the prenatal screening decision aid in Iran: A qualitative study

Nursing Practice Today, 2021
Background & Aim: Patient decision aids are detailed and personalized health education materials that assist patients in decision making. According to expert viewpoints, this study aimed to determine important factors in implementing the prenatal ...
Razieh Zahedi, Leila Nemati-Anaraki, Shahram Sedghi, Mamak Shariat   +3 more
doaj   +1 more source

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D, Assing, E, Axelrod, R, Blau, J, Chandra, S, Cohen, M, Fofah, O, Garg, LF, Giuliano, M, Govindaswami, B, Grazel, R, Hassinger, D, Hudome, S, Jegatheesan, P, Koppel, R, Kumar, P, Lakshminrusimha, S, Lohr, J, McClure, D, Spillane, N, Van Naarden Braun, K   +20 more
core   +2 more sources

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

Molecular Cytogenetics, 2019
Background Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign.
Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin, Yuying Jiang   +5 more
doaj   +1 more source

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core   +2 more sources

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters

Frontiers in Genetics, 2019
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu, Yiyang Zhu, Yiyang Zhu, Qunda Shan, Qunda Shan, Jiayong Zheng, Qunxi Cai, Huanli Yang, Jianhong Zhang, Xiaodong Du, Fan Jin, Fan Jin   +11 more
doaj   +1 more source

Increased risk of secondary bladder cancer after radiation therapy for endometrial cancer

Scientific Reports, 2022
To investigate the effect of radiation therapy (RT) after endometrial cancer (EC) diagnosis on the risk of occurring secondary bladder cancer (SBC) as well as on the survival outcome of those patients who suffered with SBC.
Li Wen, Guansheng Zhong, Min Ren
doaj   +1 more source