Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.
J Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Prenatal Predictors and Early Postnatal Outcomes in Fetuses Diagnosed with Tricuspid Atresia.
Diagnostics (Basel)
December 2024
Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Department of Perinatology, Health Science University, Istanbul 34668, Turkey.
To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis.
View Article and Find Full Text PDFClinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.
Genes (Basel)
November 2024
Laboratório de Citogenética Clínica, Centro de Genética Médica, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.
View Article and Find Full Text PDFThe efficacy of expanded non-invasive prenatal testing (NIPT) in a high-risk twin pregnancies cohort.
Acta Obstet Gynecol Scand
December 2024
Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Introduction: Our objective was to evaluate the efficacy of expanded non-invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high-risk twin pregnancies.
Material And Methods: A prospective, double-blinded cohort study was conducted, enrolling 73 high-risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes.
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing.
Eur J Hum Genet
September 2024
Natera, Inc., San Carlos, CA, USA.
Article Synopsis
- Robertsonian translocations (robs) can lead to risky chromosome imbalances during reproduction, and Preimplantation Genetic Testing (PGT) helps evaluate these patterns early on.
- In a study involving 296 couples, results showed that male rob carriers had a higher likelihood of producing embryos with normal chromosome complements compared to female carriers, with significant differences in the number of viable blastocysts available.
- The findings suggest that during sperm development, there may be a natural selection against unbalanced chromosome forms, and PGT is a valuable tool for counseling rob carriers regarding their chances of having healthy embryos.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!