Multiple marker screening test: identification of fetal cystic hygroma, hydrops, and sex chromosome aneuploidy.
The goal of this study was to determine if the multiple marker screening test (maternal serum alpha-fetoprotein, unconjugated estriol, human chorionic gonadotrophin, and maternal age) detects fetal Turner syndrome or just cystic hygroma/hydrops. Multiple marker screening tests from 4 groups were compared: 1) Turner syndrome with hydrops/ hygroma group (n = 10) = fetuses with cystic hygroma/hydrops and a 45X karyotype, 2) Turner syndrome without hydrops/hygroma (n = 9) = sonographically unremarkable fetal Turner syndrome or Turner mosaic, 3) hydrops group (n = 8) = all cases of fetal cystic hygroma/hydrops excluding Turner syndrome, 4) sex chromosome aneuploidy group (n = 16) = other sonographically normal fetal sex chromosome aneuploidies. Positive screening tests (Down syndrome risk > or = 1:190 or MSAFP > or = 2.5 MOM) were found in 60% (6/10) of the Turner syndrome with hydrops/hygroma group, but only 11% (1/9) of the Turner syndrome without hydrops/hygroma group (P = .04). The incidence of positive screening tests in the Hydrops group was 75% (6/8), while it was only 12.5% (2/16) in the other sex chromosome aneuploidy group. We conclude that the multiple marker screening test identifies fetuses with cystic hygroma/hydrops, and may do so independently of the etiology of the hydrops.
Wenstrom
K D
KD
Department of Obstetrics/Gynecology, University of Alabama, Birmingham, USA.
Boots
L R
LR
Cosper
P C
PC
D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D015415:Biomarkers / Q000097:blood; D006063:Chorionic Gonadotropin / Q000097:blood; D004314:Down Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D004964:Estriol / Q000097:blood; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D015994:Incidence; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D000509:alpha-Fetoproteins / Q000032:analysis
D015415:Biomarkers; D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol