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Down Syndrome - Ultrasonography
Research News and Information
Definition of 'Down Syndrome'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) |
Monday, November 23, 2009
First trimester measurements of nasal bone length using three-dimensional ultrasound.
30 Jul 2009
OBJECTIVES: To investigate the feasibility and reproducibility of measurements of nasal bone length using a three-dimensional (3D) ultrasound in the first trimester. METHODS: In a prospective study, 118 consecutive pregnant women attending for Down ... Read more...
Women's choice for Down's screening--a comparative experience in three district general hospitals.
15 Jun 2009
OBJECTIVES: To look at women's knowledge and understanding of Down's syndrome screening at our hospital and compare the uptake of screening with two other local hospitals in the same trust. STUDY DESIGN: All women attending for their anomaly scan at ... Read more...
30 May 2009
OBJECTIVE: To investigate if fetal sex has an impact on 1st trimester combined screening for aenuploidy. METHODS: We studied the first trimester PAPP-A, free beta-human chorionic gonadatropin (beta-hCG) and nuchal translucency levels in 56,024 ... Read more...
Latest indexed articles for 'Down Syndrome - Ultrasonography'
These are the very latest articles for this heading:
- First trimester measurements of nasal bone length using three-dimensional ultrasound.
30 Jul 2009 - [Informed choice--important also for Norwegian pregnant women]
23 Jun 2009 - Women's choice for Down's screening--a comparative experience in three district general hospitals.
15 Jun 2009 - Clinical practice. Prenatal screening for aneuploidy.
9 Jun 2009 - The impact of fetal gender on first trimester nuchal translucency and maternal serum free beta-hCG and PAPP-A MoM in normal and trisomy 21 pregnancies.
30 May 2009 - Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists.
19 May 2009 - A comparison of binary models dealing with an extraneous effect relating to the main risk factor, but not relating to the outcome variable.
29 Apr 2009 - Prenatal diagnosis of double aneuploidy, 48,XXY,+21, and review of the literature.
29 Apr 2009 - Examination of a first-trimester Down syndrome screening concept on a mix of 11,107 high- and low-risk patients at a private center for prenatal medicine in Germany.
9 Apr 2009 - Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus.
Mar 2009 - [Classic maternal phenylketonuria and sonographic evidence of fetal trisomy 21: first description]
Mar 2009 - Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites.
27 Feb 2009 - Second-trimester genetic sonography after first-trimester combined screening for trisomy 21.
27 Feb 2009 - Second-trimester genetic sonogram for detection of fetal chromosomal abnormalities in a community-based antenatal testing unit.
30 Jan 2009 - Maintaining quality assurance for sonographic nuchal translucency measurement: lessons from the FASTER Trial.
30 Jan 2009 - Nuchal translucency and nasal bone in first-trimester ultrasound screening for aneuploidy in multiple pregnancies.
30 Jan 2009 - Etiologic discussion and clinical relevance of thyroid ultrasonography in subclinical hypothyroidism. A retrospective study in 1845 patients.
19 Jan 2009 - Prenatal cortical hyperostosis (Caffey disease) with Down syndrome.
30 Dec 2008 - Screening for Down's syndrome in the first trimester: combined risk calculation, methodology, and validation of a web-based system.
30 Dec 2008 - Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy.
30 Dec 2008
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