Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Molecular Cytogenetics, 2020 Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li +9 more
doaj +1 more source
Neuroprotective Immunity by Essential Nutrient "Choline" for the Prevention of SARS CoV2 Infections: An in Silico Study by Molecular Dynamics Approach [PDF]
Chemical Physics Letters 761 (2020) 138057, 2020 Prenatal COVID infection is one of the worst affected and least attended aspects of the COVID-19 disease. Like other coronaviruses, CoV2 infection is anticipated to affect fetal development by maternal inflammatory response on the fetus and placenta. Studies showed that higher prenatal choline level in mother's body can safeguard the developing brain ...
arxiv +1 more source
Amniocentesis and chorionic villus sampling for prenatal diagnosis.
Cochrane Database of Systematic Reviews, 2017 BACKGROUND During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood.
Z. Alfirevic +2 more
semanticscholar +1 more source
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
Molecular Cytogenetics, 2018 Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai +10 more
doaj +1 more source
Copy number variations associated with fetal congenital kidney malformations
Molecular Cytogenetics, 2020 Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai +9 more
doaj +1 more source
A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
Molecular Cytogenetics, 2021 Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang +10 more
doaj +1 more source
CAS-Net: Conditional Atlas Generation and Brain Segmentation for Fetal MRI [PDF]
arXiv, 2022 Fetal Magnetic Resonance Imaging (MRI) is used in prenatal diagnosis and to assess early brain development. Accurate segmentation of the different brain tissues is a vital step in several brain analysis tasks, such as cortical surface reconstruction and tissue thickness measurements.
arxiv
Congenital pancreatoblastoma: a case report [PDF]
, 2015 The literature describes 15 cases of congenital pancreatoblastoma (PB): 5 had prenatal diagnosis, none had metastases at diagnosis, 7 were associated with BeckwitheWiedemann syndrome (BWS).
Alaggio, Rita +5 more
core +1 more source
Nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization cycles
BMC Pregnancy and Childbirth, 2023 Background The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles.
Mohan Wang +6 more
doaj +1 more source
Towards A Device-Independent Deep Learning Approach for the Automated Segmentation of Sonographic Fetal Brain Structures: A Multi-Center and Multi-Device Validation [PDF]
arXiv, 2022 Quality assessment of prenatal ultrasonography is essential for the screening of fetal central nervous system (CNS) anomalies. The interpretation of fetal brain structures is highly subjective, expertise-driven, and requires years of training experience, limiting quality prenatal care for all pregnant mothers.
arxiv