Results 51 to 60 of about 7,985 (170)
Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series. [PDF]
Mol Genet Genomic MedPrenatal 7q11.23 CNVs exhibit 100% ultrasound anomalies in deletions (cardiovascular defects, growth restriction) and 50% in duplications. Inherited CNVs (50% deletions, 43% duplications) correlate with milder outcomes, while de novo variants drive high TOP rates (76.5%), emphasizing genomic testing and parental studies for precise counseling. ABSTRACT
Yan J, Liu Z, Yi S, Liu N.
europepmc +2 more sources
Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes [PDF]
European Journal of Human Genetics, 2002 Prenatal diagnosis of chromosomal abnormalities by cytogenetic analysis is time consuming, expensive, and requires highly qualified technicians. Rapid diagnosis of aneuploidies followed by reassurance for women with normal results can be performed by molecular analysis of uncultured foetal cells in less than 24 h.
Haissam, Rahil +4 more
openaire +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction (IUGR) in the fetus.
Chih-Ping Chen +9 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: We present prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome.
Chih-Ping Chen +8 more
doaj +1 more source
Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis
Taiwanese Journal of Obstetrics & Gynecology, 2012 Objective: This study aims at presenting prenatal diagnosis of mosaic trisomy 2 and reviewing the literature. Materials, Methods, and Results: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of abnormal maternal serum ...
Chih-Ping Chen +7 more
doaj +1 more source
A culture-independent approach to unravel uncultured bacteria and functional genes in a complex microbial community [PDF]
, 2012 Most microorganisms in nature are uncultured with unknown functionality. Sequence-based metagenomics alone answers 'who/what are there?' but not 'what are they doing and who is doing it and how?'.
Zhou, Q. +47 more
core +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2016 Objective: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. Materials and Methods: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation
Chih-Ping Chen +9 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: We present low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome.
Chih-Ping Chen +11 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissue.
Chih-Ping Chen +9 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.
Chih-Ping Chen +6 more
doaj +1 more source