• 45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth
• 45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultur
• A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p
• Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
• Analysis results of 169 cases of chorionic villus samples of missed abortion using high throughput sequencing
• Androgenetic Complete Hydatidiform Moles With p57KIP2-Positive Immunostaining
• Application of Array-based Comparative Genomic Hybridization in the Prenatal Diagnosis of Fetal Chromosomal Aberration in Gravidas with Advanced Age
• Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion
• Application of in situ amniocyte culture for prenatal diagnosis
• Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis
• Are paternal or grandmaternal age associated with higher probability of trisomy 21 in offspring? A population-based, matched case-control study, 1995-2015
• Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years
• Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review
• Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center
• Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China
• Clinical Validation of Novel Chip-Based Digital PCR Platform for Fetal Aneuploidies Screening
• Clinical value of routine non-invasive prenatal testing for the screening of non-target chromosomal abnormalities
• Comorbidity landscape of the Danish patient population affected by chromosome abnormalities
• Comparison of the etiological constitution of two and three or more recurrent miscarriage
• Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center
• Cycloid Psychosis Comorbid with Prader-Willi Syndrome: A Case Series
• Cytogenetic Analysis of Amniotic Fluid Cells in 4206 Cases of High-Risk Pregnant Women
• Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome
• Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preecl
• Detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology and in vitro fertilization
• Developmental potential of aneuploid human embryos cultured beyond implantation
• Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
• Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma
• Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
• Evidence for nonhomologous meiotic coorientation in man
• Evidence-based clinical prioritization of embryos with mosaic results: a systematic review and meta-analysis
• Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study
• Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
• Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
• Genetic testing and analysis of 2 cases of trisomy 11 mosaicism
• Genetic testing on products of conception and its relationship with body mass index
• Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing
• Genomic imbalances in the placenta are associated with poor fetal growth
• Green tea extracts containing epigallocatechin-3-gallate modulate facial development in Down syndrome
• High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation
• High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line
• Identification of aneuploidy in dogs screened by a SNP microarray
• Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals
• Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
• Intussusception in Mosaic Trisomy 14
• Late amniocentesis with uniparental disomy testing following successful in vitro fertilization and transfer of three mosaic embryos in a pregnancy with a favorable outcome
• Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
• 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
• Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
• Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amni
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
• Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the
• Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome
• Management and Outcomes of Hepatoblastoma in Patients With Trisomy 18: A Systematic Review and Pooled Analysis of 70 Patients
• Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <em>SPR</em> and <em>ZNF142</em> : A Case Report and Review of the UPD2 Literature
• Monocentric Study on the Performance of Noninvasive Prenatal Testing on Cell-Free DNA for the Detection of Monosomy X
• Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation
• Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
• Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer
• 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 tissues
• Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature
• Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies in prenatal diagnosis
• Multifactorial origin of pulmonary hypertension in a child with congenital heart disease, Down syndrome, and <em>BMPR-2</em> mutation
• Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies
• Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA
• Papillary renal neoplasm with reverse polarity may be a novel renal cell tumor entity with low malignant potential
• Parent-reported histories of adults with trisomy 13 syndrome
• Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern
• Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome
• Pitfalls and management of corrective spinal surgery in trisomy 9 mosaicism: a report of three cases
• Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
• Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies
• Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements
• Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy
• Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study
• Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome
• Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy
• Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome
• Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome
• Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a twin pregnancy with a favorable outcome
• Prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis in a pregnancy with a favorable outcome
• Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
• Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm
• Prenatal Sonographic Features of Rare Chromosome 13 Aberrations
• Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases
• Refined diagnosis of hydatidiform moles with p57 immunohistochemistry and molecular genotyping: updated analysis of a prospective series of 2217 cases
• Report content and prenatal diagnosis of non-invasive prenatal testing for sex chromosome aneuploidy
• Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?
• Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study
• Simulated confined placental mosaicism proportion (SCPMP) based on cell-free fetal DNA fraction enrichment can reduce false-positive results in non-invasive prenatal testing
• Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study
• The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report
• The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing
• The significance of rare chromosomal abnormalities and fetoplacental mosaicism in prenatal diagnosis in the non-invasive prenatal testing era
• The significance of trisomy 7 mosaicism in noninvasive prenatal screening
• TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
• Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome
• Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review
• Uniparental disomy is a chromosomic disorder in the first place
• Unusual Longevity of Edwards Syndrome: A Case Report