Results 51 to 60 of about 1,997,745 (357)

Prenatal screening methods for aneuploidies

North American Journal of Medical Sciences, 2013
Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added.
Dey, Madhusudan, Sharma, Sumedha, Aggarwal, Sumita   +2 more
openaire   +3 more sources

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

Molecular Genetics & Genomic Medicine, 2019
Background The sources and variants types of the copy number variations (CNVs) in prenatal fetal, and the critical role of parental origin on the interpretation of fetal CNVs are unclear.
Panlai Shi, Rui Li, Conghui Wang, Xiangdong Kong   +3 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

The cost-effectiveness of neonatal versus prenatal screening for congenital toxoplasmosis

PLoS ONE, 2019
Background Congenital Toxoplasmosis (CT) can have severe consequences. France, Austria, and Slovenia have prenatal screening programs whereas some other countries are considering universal screening to reduce congenital transmission and severity of ...
C. Binquet, C. Lejeune, V. Séror, F. Peyron, A. Bertaux, O. Scemama, C. Quantin, S. Béjean, Eileen Stillwaggon, M. Wallon   +9 more
semanticscholar   +1 more source

Prenatal Genetic Screening

OJIN: The Online Journal of Issues in Nursing, 2000
This article presents a discussion of screening principles and techniques available to screen for common birth defects during pregnancy. Sixty-five to 70% of women have serum screening and /or ultrasound during pregnancy to evaluate the health and well-being of the developing fetus.
openaire   +2 more sources

Pregnancies with ‘double-positive’ multiple marker screening results: a population-based study in Ontario, Canada

BMC Pregnancy and Childbirth
Background Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is ‘double-positive’—a screening result that is unexpectedly positive for both aneuploidies. Although
Kara Bellai-Dussault, Shelley D. Dougan, Deshayne B. Fell, Steven Hawken, Tianhua Huang, Carolina Lavin Venegas, Julian Little, Lynn Meng, Nan Okun, Mark Walker, Christine M. Armour, Beth K. POTTER   +11 more
doaj   +1 more source

Early‐life high‐fat diet exposure increases Achilles tendon stiffness and induces transcriptomic alterations

FEBS Open Bio, EarlyView.
Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin, Ziyang Yuan, Wenli Jiang, Ai Guo   +3 more
wiley   +1 more source

Cell‐free DNA fetal fraction in twin gestations in single‐nucleotide polymorphism‐based noninvasive prenatal screening

Prenatal Diagnosis, 2019
The performance of noninvasive prenatal screening (NIPS) for fetal aneuploidy in twin pregnancies is dependent on the amount of placentally derived cell‐free DNA, the “fetal fraction (FF),” present in maternal plasma.
H. Hedriana, K. Martin, D. Saltzman, P. Billings, Z. Demko, P. Benn   +5 more
semanticscholar   +1 more source

Understandings of Down's syndrome and their place in the prenatal testing context [PDF]

, 2003
INTRODUCTION: There is a growing consensus that decisions about prenatal testing should a) be informed, and b) reflect the individual's attitudes and values.
Bryant, Louise Dorothy
core  

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source