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Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was introduced in the 1990s. [7] This method identifies about 75% of affected fetuses while screening about 5% of pregnancies. Natural fetal loss after positive diagnosis at 12 weeks is about 30%. [6]
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Kyprianos "Kypros" Nicolaides FRCOG (born 9 April 1953) is a Greek Cypriot physician of British citizenship, Professor of Fetal Medicine at King's College Hospital, London.He is one of the pioneers of fetal medicine and his discoveries have revolutionised the field. [1]
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Sonja Rasmussen, M.D., professor of genetic medicine at the Johns Hopkins University School of Medicine, explains how Down syndrome and mosaic Down syndrome differ. “Typically, we all have 46 ...
Ultrasound imaging provides the opportunity to conduct a nuchal translucency (NT) scan screening for chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Using the information from the NT scan the mother can be offered an invasive diagnostic test for fetal chromosomal ...
Meningism is a set of symptoms similar to those of meningitis but not caused by meningitis. [1] [3] [4] Whereas meningitis is inflammation of the meninges (membranes that cover the central nervous system), meningism is caused by nonmeningitic irritation of the meninges, usually associated with acute febrile illness, [1] [2] especially in children and adolescents. [2]
Mitotic nondisjunction after conception would lead to mosaicism, and is discussed later. Some cases have been reported of people with Down syndrome having children with trisomy 21. [5] In these cases (all from mothers), the ovaries were trisomy 21, leading to a secondary nondisjunction during gametogenesis and a gamete with an extra chromosome 21.