Results 141 to 150 of about 10,637 (245)
Taiwanese Journal of Obstetrics & GynecologyObjective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype.
Haruna Okubo +12 more
doaj +1 more source
Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.Prenatal 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
Jiong Yan, Ziyang Liu, Song Yi, Nian Liu
wiley +1 more source
Modeling chorionic villus sampling technique: influence of number of needle ‘passes’ on quantity of chorionic villi obtained [PDF]
, 2012 Karolina Skorupskaite +2 more
openalex +1 more source
Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang +21 more
wiley +1 more source
Banning Abortion in Cases of Down Syndrome: Important Lessons for Advances in Genetic Diagnosis [PDF]
, 2018 In December 2017, Ohio passed into law legislation that prohibited physicians from performing abortions if the pregnant woman’s decision was influenced by her belief that the fetus has Down syndrome.
Gostin, Lawrence O., Reingold, Rebecca
core +1 more source
Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions
Prenatal Diagnosis, Volume 46, Issue 1, Page 3-11, January 2026.ABSTRACT Objective We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal features, and parental symptoms to deepen our understanding of congenital lymphatic anomalies.
Sara G. Vargo +4 more
wiley +1 more source
Journal of Genetic Medicine, 2014 Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening.
openaire +2 more sources
Placental chorangiomas: Diagnostic challenges and contemporary approaches to fetal care
Pregnancy, Volume 2, Issue 1, January 2026.Abstract Placental chorangiomas are the most common benign tumors of the placenta. Although most are small and asymptomatic lesions, giant chorangiomas are associated with an increased risk of adverse maternal and fetal outcomes. Therefore, in those affected by giant placental chorangioma, early diagnosis and intensive fetal monitoring are indicated to
Tiffany E. Deihl +6 more
wiley +1 more source
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX. [PDF]
Genes (Basel), 2021 Pandelache A +7 more
europepmc +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 73-78, January 2026.ABSTRACT Objective Prenatal single‐nucleotide polymorphism (SNP)‐based cell‐free DNA (cfDNA) screening can identify genome‐wide paternal uniparental disomy (GW‐UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic/chimeric GW‐UPDpat syndrome ...
P. Benn +5 more
wiley +1 more source