Objective: To compare the indications for invasive prenatal testing resulting in the detection of translocation Down syndrome and complete trisomy 21.
Study Design: This case control study was based on a large amniocentesis and chorionic villi samples database (n = 534,795). All specimens with translocation Down syndrome (n = 203) comprised the translocation group and were compared with a maternal age-matched group (4 to 1, n = 812) in which complete trisomy 21 was detected. Women with a normal karyotype were randomly selected (n = 812) and served as controls. Indications for invasive testing were compared among the 3 paired groups using χ(2) analysis.
Results: There were no differences in the incidence of abnormal first- and second-trimester screening tests between the translocation Down syndrome and the complete trisomy 21 groups. History of prior aneuploidy was significantly more frequent in the translocation Down syndrome group, as compared with either complete trisomy 21 fetuses or normal controls.
Conclusion: Fetuses with translocation Down syndrome present with the same screening abnormalities as fetuses with complete trisomy 21.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ajog.2010.06.019 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
JAK inhibition decreases the autoimmune burden in Down syndrome.
Elife
December 2024
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, United States.
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.
Methods: We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping.
Fertility and Sexual Function in Males with Hirschsprung's Disease: A Nordic Cross-Sectional Study.
Ann Surg
December 2024
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Objective: The aim was to assess fertility, sexual function and sexual quality of life in males with Hirschsprung's disease (HSCR) in the Nordic countries with a cross-sectional study using self-reported validated questionnaires.
Summary Background Data: Data on fertility and sexual function in males with HSCR are limited.
Methods: This multi-center study targeted all males born between 1970-2003 who underwent pull-through surgery at a pediatric surgery center in Sweden, Denmark, Norway, or Finland.
Male Down syndrome Ts65Dn mice have impaired bone regeneration.
Bone
December 2024
Department of Veterinary Physiology and Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843, United States of America. Electronic address:
Trisomy of human chromosome 21 (Ts21) individuals present with a spectrum of low bone mineral density (BMD) that predisposes this vulnerable group to skeletal injuries. To determine the bone regenerative capacity of Down syndrome (DS) mice, male and female Dp16 and Ts65Dn DS mice underwent amputation of the digit tip (the terminal phalanx (P3)). This is a well-established mammalian model of bone regeneration that restores the amputated skeletal segment and all associated soft tissues.
View Article and Find Full Text PDFPost-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.
Ann Hematol
December 2024
Division of Hematology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Transient abnormal myelopoiesis (TAM) generally affects newborns with Down syndrome and is associated with constitutional trisomy 21 and a somatic GATA1 mutation. Here we describe a case of TAM which evolved after umbilical cord blood transplantation (UCBT), whose origin was identified as a GATA1 mutation-harboring clone in umbilical cord blood (UCB) by detailed genetic analyses. A 58-year-old male who received UCBT for peripheral T-cell lymphoma presented progressive anemia and thrombocytopenia, and leukocytosis with blast cells in the peripheral blood (PB).
View Article and Find Full Text PDFTimeline to symptomatic Alzheimer's disease in people with Down syndrome as assessed by amyloid-PET and tau-PET: a longitudinal cohort study.
Lancet Neurol
December 2024
Waisman Center, University of Wisconsin-Madison, Madison, WI, USA; School of Human Ecology, University of Wisconsin-Madison, Madison, WI, USA. Electronic address:
Article Synopsis
- This study focused on the risk of Alzheimer's disease in adults with Down syndrome, using amyloid and tau PET imaging to track disease progression.
- It involved a longitudinal analysis of 167 participants, assessing cognitive functioning and biomarkers over two visits between 2017 and 2022.
- The research aimed to determine the timeline for symptomatic Alzheimer's based on "amyloid age" and its relation to cognitive decline and tau accumulation.
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!