Results 21 to 30 of about 262,419 (315)
Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia? [PDF]
, 2015 OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA ...
A. Bonnard +10 more
core +4 more sources
Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l’œsophage de type III ? [PDF]
, 2015 OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010.
A. Bonnard +41 more
core +4 more sources
Molecular Cytogenetics, 2020 Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou +6 more
doaj +1 more source
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 +7 more
core +2 more sources
Scientific Reports, 2023 Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang +6 more
doaj +1 more source
Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
core +3 more sources
BMC Cardiovascular Disorders, 2020 Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen +10 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2022 Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui +8 more
doaj +1 more source
Decision-making and ante-natal screening for sickle cell and thalassaemia disorders : To what extent do faith and religious identity mediate choice? [PDF]
, 2008 When making decisions about prenatal diagnosis, couples not only draw on their understanding of the condition but also broader aspects of their cultural identity.
Ahmed, Shenaz +3 more
core +1 more source
Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
Molecular Cytogenetics, 2019 Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu +9 more
doaj +1 more source