• A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching
• A single institution anesthetic experience with catheterization of pediatric pulmonary hypertension patients
• Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature
• An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X
• Assessing autosomal aneuploidy in ancient genomes
• Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch
• Association of tetralogy of Fallot and complete atrioventricular canal: a single-centre 40-year experience
• Association of tetralogy of fallot and complete atrioventricular canal. A single center 40-year experience
• Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome
• Bruxism in a Child with Trisomy 21 (Down Syndrome)-Case Report
• Cardiac Complications in Trisomy 21 Patients in a Secondary Hospital: A Descriptive Study
• Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
• Cell type-specific enrichment of somatic aneuploidy in the mammalian brain
• Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies
• Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain
• Characterization of the anterior segment in Trisomy 21-associated cataract using ultrasound biomicroscopy
• Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples
• Chromosomal abnormalities study for anembryonic pregnancy by BACs-on-Beads technique
• Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism
• Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study
• Clinical features associated with maternal uniparental disomy for chromosome 6
• Clinicopathological and molecular genetic features of confined placental mosaicism
• Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide data on prenatal profiles and detection compared with NIPT
• Combined Z-scores to assess the impact of rare autosomal trisomies that results in non-invasive prenatal screening on pregnancy outcomes
• Comparison of the ratio of second trimester fetal biometric measurements to fetal nasal bone length in fetuses with normal karyotype and trisomy 21
• Comparison of two superparamagnetic purification magnetic beads-based screening and enrichment techniques for isolating cell-free fetal DNA from maternal plasma for non-invasive prenatal screening
• Compromised femoral and lumbovertebral bone in the Dp(16)1Yey Down syndrome mouse model
• Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study
• Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States
• Context-dependent role of trisomy 6 in myelodysplastic neoplasms and acute myeloid leukemia: a multi-omics analysis
• COVID-19 in patients with Down syndrome: A systematic review
• Creation of a Pediatric Sedation Risk Assessment Scoring System: A Novel Method to Stratify Risk
• Cytogenetic, Clinical, Hematologic, Demographic, Immunohistochemical, and Flow Cytometry Characteristics of Patients with Plasma Cell Neoplasm in Five Years: A First Report from Iran
• Diagnostic accuracy of cell-free DNA in maternal blood in detecting chromosomal anomalies in twin pregnancies: systematic review and meta-analysis
• Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals
• DUODENAL ATRESIA IN FINLAND FROM 2004 to 2017: PREVALENCE, MORTALITY AND ASSOCIATED ANOMALIES A population-based study
• Duodenal Atresia in Finland from 2004 to 2017: Prevalence, Mortality, and Associated Anomalies-A Population-Based Study
• Elevated sperm DNA fragmentation is correlated with an increased chromosomal aneuploidy rate of miscarried conceptus in women of advanced age undergoing fresh embryo transfer cycle
• Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
• Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy
• Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012-2020
• Experience of copy number variation sequencing applied in spontaneous abortion
• First Trimester Contingent Screening for Aneuploidies with Cell-Free Fetal DNA in Singleton Pregnancies - a Swiss Single Centre Experience
• Folate gene polymorphisms <em>CBS</em> 844ins68 and <em>RFC1</em> A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study
• Human Genetics of Ventricular Septal Defect
• Hypoglycemia Associated With PEG-asparaginase and 6-MP Therapy During Treatment of Acute Lymphoblastic Leukemia in Pediatric Patients: A Case Series
• Imaging findings and MRI patterns in a cohort of 18q chromosomal abnormalities
• Impact of definitive surgery for esophageal atresia on long-term outcomes in patients with trisomy 18
• Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes
• Initial Respiratory System Involvement in Juvenile Idiopathic Arthritis with Systemic Onset Is a Marker of Interstitial Lung Disease: The Results of Retrospective Cohort Study Analysis
• Integrative immunophenotypic and genetic characterization of acute myeloid leukemia with CBFB rearrangement
• Lamivudine modulates the expression of neurological impairment-related genes and LINE-1 retrotransposons in brain tissues of a Down syndrome mouse model
• Large Vestibular Aqueduct-Associated Symptoms: Endolymphatic Duct Blockage as a Surgical Treatment
• Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene
• Long-term visual outcomes in spasmus nutans
• Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
• Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome
• Management and Outcomes of Hepatoblastoma in Patients With Trisomy 18: A Systematic Review and Pooled Analysis of 70 Patients
• Medical Findings in Infants Prenatally Identified with Sex Chromosome Trisomy in Year One of Life
• More Than a Flesh Wound: Trisomy 21 Patients Undergoing Posterior Spinal Fusion for Scoliosis Have High Odds of Wound Complications
• Mosaicism for Autosomal Trisomies: A Comprehensive Analysis of 1266 Published Cases Focusing on Maternal Age and Reproductive History
• Multi-institutional Assessment of Otitis Media Epidemiology Using Real-world Data
• National registry of thoracoamniotic shunting using a double-basket catheter: A post-marketing surveillance registry of 295 patients with fetal hydrothorax
• Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality
• NIPT for adult-onset conditions: Australian NIPT users' views
• Non-Invasive Prenatal Testing:Results in 3733 Cases of Twin Pregnancy and Association With Factors Such as Age
• Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review
• Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure
• Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise
• Opioid and benzodiazepine requirements in critically ill post-surgical children with down syndrome: a systematic review and meta-analysis
• Optimal Treatment Approaches to Intestinal Behçet's Disease Complicated by Myelodysplastic Syndrome: The KASID and KSBD Multicenter Study
• Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia
• Orthodontic findings in adults with Trisomy 21
• Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation
• Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis
• Prenatal detection of chromosome 7q deletion with duplication: A case report and literature review
• Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication
• Prenatal diagnosis of congenital eyelid eversion in trisomy 21
• Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non-invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7-year experience
• Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies
• Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity
• Racial and ethnic disparities in non-invasive prenatal testing adherence: a retrospective cohort study
• Rare Case of a 20p13 Duplication Trisomy With Craniostenosis
• Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies
• Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome
• Spinal Atypical Teratoid Rhabdoid Tumor in a 14-Year-old Child With Down Syndrome: A Case Report
• Surgery for hepatoblastoma in children with trisomy 18: a monocentric study
• Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country
• Systemic juvenile idiopathic arthritis-associated lung disease: A retrospective cohort study
• TERMINATION OF PREGNANCY DUE TO FETAL ABNORMALITIES PERFORMED AFTER 24 WEEKS OF GESTATION: THE EXPERIENCE OF THE DEPARTMENT OF OBSTETRICS AND GYNECOLOGY AT SHAMIR (ASSAF HAROFE) MEDICAL CENTER BETWEEN THE YEARS 1998-2021
• The Effects of Prescribed Physical and Cognitive Exercise on Life Satisfaction, Self-Efficacy and Mood States in Adults with Down Syndrome: The MinDSets Study
• The evolving genetic etiology of conotruncal anomalies
• The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study
• The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or "soft" marker on ultrasonographic scanning
• The relationship between thyroid autoantibodies and X chromosome monosomy in the chorionic tissue of patients with missed miscarriage
• THE RISK FOR CLINICALLY SIGNIFICANT COPY NUMBER VARIANTS IN PREGNANCIES WITH TWO SOFT MARKERS
• Transcriptional consequences of trisomy 21 on neural induction
• Triple-Negative Myelofibrosis: Disease Features, Response to Treatment and Outcomes
• Trisomy 13 with retroiliac ureter diagnosed by assessment for recurrent febrile urinary tract infections
• Trisomy 21 screening with alphalpha software and the Fetal Medicine Foundation algorithm