Document Detail


False-positive quadruple screen test for trisomy 18 in a patient with a fetus with Bloom's syndrome.
MedLine Citation:
PMID:  17361088     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Laxmi Baxi; Stephen Brown; Harshwardhan M Thaker
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2007-03-15
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  22     ISSN:  1421-9964     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:  2007  
Date Detail:
Created Date:  2007-06-15     Completed Date:  2007-07-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  318-20     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2007 S. Karger AG, Basel.
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
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis
Biological Markers / blood*
Bloom Syndrome / blood,  diagnosis*,  embryology,  genetics,  pathology
Cesarean Section, Repeat
Chorionic Gonadotropin, beta Subunit, Human / blood
Chromosomes, Human, Pair 18*
Estriol / blood
False Positive Reactions
Female
Fetal Growth Retardation / diagnosis
Humans
Inhibins / blood
Karyotyping
Live Birth
Oligohydramnios / diagnosis
Placenta / pathology*
Pregnancy
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Prenatal Diagnosis*
Trisomy / diagnosis*,  genetics,  pathology
Ultrasonography, Prenatal
alpha-Fetoproteins / metabolism
Chemical
Reg. No./Substance:
0/Biological Markers; 0/Chorionic Gonadotropin, beta Subunit, Human; 0/alpha-Fetoproteins; 50-27-1/Estriol; 57285-09-3/Inhibins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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