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Urinary multiple marker screening for down's syndrome
Author(s) -
Cuckle H. S.,
Iles R. K.,
Sehmi I. K.,
Chard T.,
Oakey R. E.,
Davies S.,
Ind T.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150810
Subject(s) - down syndrome , medicine , trisomy , urinary system , endocrinology , urine , amniocentesis , turner syndrome , aneuploidy , gestation , gynecology , prenatal diagnosis , pregnancy , fetus , biology , genetics , psychiatry , biochemistry , gene , chromosome
We have examined the possibility of using multiple markers in maternal urine rather than serum in order to screen for Down's syndrome. Urine samples were available from 36 cases (24 Down's syndrome, five Edwards' syndrome, three Turner's syndrome, one Klinefelter's syndrome, one triploidy, one triple‐X, one twin discordant for Down's syndrome) and 294 controls, including three twins. Three markers were tested: the β‐core fragment of human chorionic gonadotrophin (hCG), total oestrogen (tE) and the free a subunit of hCG. Levels were corrected for creatinine excretion and expressed as multiples of the gestation‐specific median (MOM) level from the singleton controls. The median value for the singleton Down's syndrome cases was 6.02, 0.74, and 1.08 MOM for β‐core‐hCG, tE, and a ‐hCG, respectively. The increases in β‐core‐hCG and the reduction in tE levels were highly significant ( P <0.0001 and 0.005, respectively; Wilcoxon rank sum test) but the increase in free a ‐hCG was not ( P =0.40). On the basis of a mathematical model, the expected detection rate for a 5 per cent false‐positive rate was 79.6 per cent for β‐core‐hCG alone, which increased to 82.3 per cent when combined with tE. Aneuploidies other than Down's syndrome were characterized by low levels of tE and either low or high β‐core‐hCG.