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First-trimester free beta (hCG) screening for Down syndrome |
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| Authors: | James N Macri Kevin Spencer David Aitken Kenneth Garver Philip D Buchanan Françoise Muller Andre Boue |
| Institution: | 1. Oldchurch Hospital, Department of Clinical Biochemistry, Romford, Essex RM7 OBE, U.K.;2. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G38 5J, U.K.;3. West Penn Hospital, 4800 Friendship Avenue, Pittsburgh, PA 15224, U.S.A.;4. GeneCare Medical Genetics Center, 120 Conner Drive, Suite 201, Chapel Hill, NC 27514, U.S.A.;5. Biochimie, Hôpital Ambroise Pare, 92104 Boulogne, France;6. Inserm U73, Chateau de Longchamp, 75016 Paris, France |
| Abstract: | Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome. |
| Keywords: | Free beta Maternal serum Down syndrome screening First trimester |