Multiple marker screen positivity in the presence of hydrops fetalis.
Three cases of hydrops fetalis presented in the second trimester as screen-positive for Down syndrome using multiple maternal serum markers. One case was a karyotypically normal female; one case was a monosomy X (Turner syndrome); and one case was a trisomy 21 (Down syndrome). In each case, the maternal serum human chorionic gonadotrophin (hCG) was disproportionately elevated. These cases support the contention that hydrops fetalis of any aetiology may present as screen-positive when using multiple maternal serum markers for Down syndrome. Further cases will be necessary before it can be determined whether a disproportionately elevated hCG is predictive of hydrops.
Knowles
S
S
King Edward Memorial Hospital for Women, Western Australia.
Flett
P
P
D000328:Adult; D006063:Chorionic Gonadotropin / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics; D016216:Ultrasonography, Prenatal
D006063:Chorionic Gonadotropin