A questionnaire survey was undertaken of all 73 laboratories performing Down's syndrome screening in 1995. An estimated 352,000 tests were performed representing 47% of maternities. Three-quarters of these tests have ultrasound dating information at the time of testing. The majority of laboratories (70%) commenced screening at 15 weeks of gestation or later, and there was considerable variation in the upper limit of screening (17 to 24 weeks). Eighty-six percent of laboratories screened all women regardless of age. The reported Down's syndrome risk was based on term in 85% of laboratories. There was an inconsistent approach to determining and reporting high risk for trisomy 18 (Edwards' syndrome): 5% reported risks on report forms and 42% notified the clinicians if the risk was considered to be raised.
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http://dx.doi.org/10.1111/j.1471-0528.1998.tb10136.x | DOI Listing |
BMC Oral Health
January 2025
Université Paris Cité, Laboratory URP 2496 Orofacial Pathologies, Imaging, and Biotherapies, Faculty of odontology, Montrouge, France.
Background: Down syndrome (DS) is a genetic condition that involves the deregulation of immune function and is characterized by a proinflammatory phenotype leading to an impaired response to infections. Periodontitis is a highly prevalent chronic inflammatory disease. It has been shown that adults and teenagers with DS are more susceptible to this disease, but a similar correlation in DS children remains elusive.
View Article and Find Full Text PDFJ Pediatr
January 2025
Children's Mercy Kansas City, Kansas City, Missouri; University of Missouri-Kansas City, School of Medicine, Kansas City, Missouri; Center for Children's Healthy Lifestyles and Nutrition, Kansas City, Missouri.
Objectives: To evaluate body mass index (BMI) trajectories over time and to evaluate common comorbidities across a large, nationally representative sample of youth with Down syndrome (DS) STUDY DESIGN: This retrospective study included children ages 2 through18 years within the Cerner Health Facts database with a diagnosis of DS and a medical visit between 2010 and 2017. Comorbid conditions were mapped into PheCodes (ie, one or more ICD codes that combine into specific diseases or traits) and were included if they occurred in at least 1% (145 PheCodes) of the sample.
Results: Outcomes trajectories were analyzed through generalized additive mixed models.
Transl Vis Sci Technol
January 2025
The Ohio State University College of Optometry, Columbus, OH, USA.
Purpose: Individuals with Down syndrome (DS) have reduced visual acuity (VA), even when wearing refractive correction. The relationship between refractive error and VA in adults with DS is explored.
Methods: Thirty adults with DS (age = 29 ± 10 years) were enrolled in a trial comparing clinical and objectively determined refractions.
Biochem Genet
January 2025
Department of Physiology, University of Louisville School of Medicine, Louisville, KY, 40202, USA.
Although DNA methyltransferase 1 (DNMT1) and RNA editor ADAR triplications exist in Down syndrome (DS), their specific roles remain unclear. DNMT methylates DNA, yielding S-adenosine homocysteine (SAH), subsequently converted to homocysteine (Hcy) and adenosine by S-adenosine homocysteine (Hcy) hydrolase (SAHH). ADAR converts adenosine to inosine and uric acid.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
January 2025
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China; Shenzhen Research Institute, The Chinese University of Hong Kong, Hong Kong SAR, China. Electronic address:
Objective: First trimester cervical angles for the prediction of spontaneous preterm birth (sPTB) remains unclear. The objective is to explore the potential value of first trimester cervical angles for the prediction of sPTB.
Study Design: This was a secondary analysis of data derived from a prospective cohort study for sPTB screening in singleton pregnancies at 11 + 0-13 + 6 weeks in women attending routine Down's syndrome screening at Prince of Wales Hospital, Hong Kong SAR, between June 2018 and July 2020.
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