title: False-positive quadruple screen test for trisomy 18 in a patient with a fetus with Bloom's syndrome.
abstract: In the literature, conflicting reports on the significance of false-positive maternal serum multiple marker testing for trisomy 18 are encountered; however, the biology of this finding is discussed infrequently. We present such a case in association with Bloom's syndrome in the fetus. The fetus had intrauterine growth restriction, seen early in the second trimester, oligohydramnios, and was delivered at 34 weeks of gestation for impending fetal compromise. We propose that the adverse outcome of the pregnancy with false-positive serum analyte testing for trisomy 18 might result from a small-sized placenta and perhaps pathology at receptor level.
authors.affiliation: Department of Obstetrics and Gynecology, College of Physicians and Surgeons of Columbia University, Sloane Hospital for Women at Columbia University Medical Center of NY Presbyterian Hospital, New York, NY, USA. lvb1@columbia.edu
authors.forename: Laxmi
authors.initials: L
authors.lastname: Baxi
authors.forename: Stephen
authors.initials: S
authors.lastname: Brown
authors.forename: Harshwardhan M
authors.initials: HM
authors.lastname: Thaker
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015415:Biomarkers / Q000097:blood*; D001816:Bloom Syndrome / Q000097:blood / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics / Q000473:pathology; D017604:Cesarean Section, Repeat; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002887:Chromosomes, Human, Pair 18; D004964:Estriol / Q000097:blood; D005189:False Positive Reactions; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis; D006801:Humans; D007265:Inhibins / Q000097:blood; D007621:Karyotyping; D050498:Live Birth; D016104:Oligohydramnios / Q000175:diagnosis; D010920:Placenta / Q000473:pathology*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; D007265:Inhibins; D004964:Estriol