Down Syndrome - Diagnosis
Research News and Information

Saturday, November 21, 2009

Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register.

24 Oct 2009 OBJECTIVES: To describe trends in the numbers of Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008. Design and setting The National Down Syndrome Cytogenetic Register holds details of 26488 antenatal and ... Read more...

Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news.

26 Sep 2009 CONTEXT: Many parents of children with Down syndrome (DS) have expressed dissatisfaction with how they learned about their child's diagnosis. DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of ... Read more...

Increased prevalence of renal and urinary tract anomalies in children with Down syndrome.

12 Sep 2009 OBJECTIVE: The goal was to investigate the prevalence of renal and urinary tract anomalies (RUTAs) in a Down syndrome (DS) population. METHODS: Data were obtained from the New York State Congenital Malformation Registry (NYS-CMR) in this ... Read more...

Latest indexed articles for 'Down Syndrome - Diagnosis'

These are the very latest articles for this heading:

• Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. 24 Oct 2009
• Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. 26 Sep 2009
• Increased prevalence of renal and urinary tract anomalies in children with Down syndrome. 12 Sep 2009
• Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements. 30 Aug 2009
• Antibodies to neurofilaments. 30 Aug 2009
• Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome. 30 Aug 2009
• First trimester measurements of nasal bone length using three-dimensional ultrasound. 30 Jul 2009
• Changing demography and variable expressivity in autosomal trisomy syndromes. 30 Jul 2009
• Genetic testing in global developmental delay: the well-intended clinician and the principle of double effect. 30 Jul 2009
• Improving residents' understanding of issues, comfort levels, and patient needs regarding screening for and diagnosing Down syndrome. 22 Jul 2009
• [Screening for trisomy 21 in France] 13 Jul 2009
• Exploring the perspective of midwives involved in offering serum screening for Down's syndrome in Northern Ireland. 6 Jul 2009
• Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. 29 Jun 2009
• Mother-child play: children with Down syndrome and typical development. 29 Jun 2009
• The Down syndrome advantage: fact or fiction? 29 Jun 2009
• [Molecular biology usefulness for rapid diagnosis of Down's syndrome and common aneuploidies] 29 Jun 2009
• Triple-marker prenatal screening program for chromosomal defects. 29 Jun 2009
• [Informed choice--important also for Norwegian pregnant women] 23 Jun 2009
• Performance of first-trimester screening between gestational weeks 7 and 13. 16 Jun 2009
• Women's choice for Down's screening--a comparative experience in three district general hospitals. 15 Jun 2009

See a longer list of these articles.

Technical information about 'Down Syndrome'

Definition: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Descriptor UI: D004314

Alternative terms: Down Syndrome; Syndrome, Down; Mongolism; Trisomy 21; Down's Syndrome; Downs Syndrome; Syndrome, Down's; Trisomy 21, Meiotic Nondisjunction; Trisomy 21, Mitotic Nondisjunction; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643.220; C16.131.077.327; C16.131.260.260; C16.320.180.260;

Online Note: use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74

History Note: 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74