Results 41 to 50 of about 3,897,220 (150)

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Basic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari   +8 more
doaj  

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review

Contemporary Clinical Dentistry, 2018
Introduction and Background: Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities.
Sreejith Vp, V. Arun, Anooj P. Devarajan, A. Gopinath, M. Sunil   +4 more
semanticscholar   +1 more source

Prenatal diagnosis of congenital cytomegalovirus infection in 115 cases: a 5 years' single center experience

Prenatal Diagnosis, 2017
The objective of this study is to investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital cytomegalovirus (CMV) infection from amniotic fluid (AF) and fetal blood (FB).
M. Enders, A. Daiminger, S. Exler, K. Ertan, Gisela Enders, R. Bald   +5 more
semanticscholar   +1 more source

Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage†

Prenatal Diagnosis, 2016
Development of an accurate and affordable test for the non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice.
Michael Parks, S. Court, S. Cleary, S. Clokie, J. Hewitt, Denise Williams, T. Cole, F. Macdonald, M. Griffiths, S. Allen   +9 more
semanticscholar   +1 more source

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BMC Medical Genomics, 2021
Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown.
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang   +6 more
doaj   +1 more source

Association of Prenatal Diagnosis of Critical Congenital Heart Disease With Postnatal Brain Development and the Risk of Brain Injury.

JAMA pediatrics, 2016
IMPORTANCE The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain ...
S. Peyvandi, V. Santiago, E. Chakkarapani, E. Chakkarapani, V. Chau, A. Campbell, K. Poskitt, Duan Xu, A. Barkovich, Steven P. Miller, Steven P. Miller, P. McQuillen   +11 more
semanticscholar   +1 more source

Third trimester ultrasound. A long-standing debate

Taiwanese Journal of Obstetrics & Gynecology, 2021
Third trimester ultrasound has long been in obstetrics a topic of debate. This issue is framed in a historical debate on the effectiveness of routine obstetrical ultrasound and two opposing trends originated in America and Europe, respectively.
Álvaro López Soto, María Velasco Martínez, Jose Luis Meseguer González, Rocío López Pérez   +3 more
doaj  

Experiences of informational needs and received information following a prenatal diagnosis of congenital heart defect

Prenatal Diagnosis, 2016
To explore the need for information and what information was actually received following prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not easily possible because of legal ...
Tommy Carlsson, G. Bergman, Barbro Wadensten, E. Mattsson   +3 more
semanticscholar   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

Prenatal Diagnosis, 2016
Evaluate the costs of offering non‐invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
T. Verhoef, M. Hill, S. Drury, S. Mason, L. Jenkins, S. Morris, L. Chitty   +6 more
semanticscholar   +1 more source