Multiple marker screening test: identification of fetal cystic hygroma, hydrops, and sex chromosome aneuploidy.

Abstract

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.

• Authors: K D Wenstrom, L R Boots, P C Cosper
• Journal: The Journal of maternal-fetal medicine (J Matern Fetal Med) 1996 Jan-Feb Vol. 5 Issue 1 Pg. 31-5 ISSN: 1057-0802 [Print] United States
• PMID: 8796763 (Publication Type: Journal Article)

Chemical References

• Biomarkers
• Chorionic Gonadotropin
• alpha-Fetoproteins
• Estriol

Topics

• Adolescent
• Adult
• Aneuploidy
• Biomarkers (blood)
• Chorionic Gonadotropin (blood)
• Down Syndrome (diagnosis, epidemiology, genetics)
• Estriol (blood)
• Female
• Fetal Diseases (diagnosis, epidemiology, genetics)
• Genetic Testing (methods)
• Humans
• Hydrops Fetalis (diagnosis, epidemiology, genetics)
• Incidence
• Karyotyping
• Lymphangioma, Cystic (diagnosis, epidemiology, genetics)
• Maternal Age
• Pregnancy
• Prenatal Diagnosis (methods)
• Sex Chromosomes
• Turner Syndrome (diagnosis, epidemiology, genetics)
• alpha-Fetoproteins (analysis)