Expanding multiple marker screening for Down's syndrome to include Edward's syndrome.
Information on maternal age and maternal serum alpha-fetoprotein, unconjugated oestriol (uE3), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi-marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10-12 (67-80 per cent) cases with a false-positive rate of 0.3-0.6 per cent depending on the risk cut-off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE3 and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false-positive rate.
Barkai
G
G
Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Goldman
B
B
Ries
L
L
Chaki
R
R
Zer
T
T
Cuckle
H
H
D000328:Adult; D000649:Amniocentesis; D006063:Chorionic Gonadotropin / Q000097:blood; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D004964:Estriol / Q000097:blood; D005189:False Positive Reactions; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D016011:Normal Distribution; D011247:Pregnancy / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods; D012307:Risk Factors; D012680:Sensitivity and Specificity; D013577:Syndrome; D014314:Trisomy; D000509:alpha-Fetoproteins / Q000032:analysis
D006063:Chorionic Gonadotropin; D005819:Genetic Markers; D000509:alpha-Fetoproteins; D004964:Estriol