Results 21 to 30 of about 4,096,588 (418)
Molecular Cytogenetics, 2021 Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis.
Lili Zhou +5 more
doaj +1 more source
Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia.
Seminars in Perinatology, 2020 Antenatal ultrasound screening identifies more than 60% of Congenital Diaphragmatic Hernia (CDH) cases and provides the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management.
A. Cordier +3 more
semanticscholar +1 more source
Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y
Molecular Cytogenetics, 2022 Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular ...
Yiqun He +5 more
doaj +1 more source
Multiview and Multiclass Image Segmentation using Deep Learning in Fetal Echocardiography [PDF]
, 2021 Congenital heart disease (CHD) is the most common congenital abnormality associated with birth defects in the United States. Despite training efforts and substantial advancement in ultrasound technology over the past years, CHD remains an abnormality that is frequently missed during prenatal ultrasonography.
arxiv +1 more source
Journal of Diabetes Research, 2021 Background. Diabetes in pregnancy is associated with an increased risk to the woman and to the developing fetus. Currently, there is no consensus on the optimal management strategies for the follow-up and the timing of delivery of pregnancies affected by
Maddalena Morlando +9 more
doaj +1 more source
Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source
Molecular Cytogenetics, 2021 Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang +5 more
doaj +1 more source
Genetics in prenatal diagnosis
Singapore Medical Journal, 2023 The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed ...
Karen Mei Xian Lim +3 more
openaire +3 more sources
Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]
, 2017 To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie +6 more
core +1 more source
Molecular Cytogenetics, 2020 Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi +6 more
doaj +1 more source