Document Detail

Predictive value of the triple screening test for the phenotype of Down syndrome.
MedLine Citation:
PMID:  10406664     Owner:  NLM     Status:  MEDLINE    
Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) are routinely measured in the second trimester ("triple" test) and combined with maternal age to evaluate risk for fetal Down syndrome. Triple test results and clinical findings were retrospectively reviewed for 30 newborns with Down syndrome to determine whether analyte values or second trimester risks for Down syndrome were more extreme in affected pregnancies where cardiac or other severe congenital malformations were present compared to those cases where major anatomical abnormalities were absent. Mean MS-AFP, uE3, maternal age, and second trimester Down syndrome risk were all similar in the two groups of pregnancies. However, hCG concentrations did appear to be higher in the group of Down syndrome pregnancies with anatomical anomalies (mean 1.74 MoM versus 1.19 MoM) (P<0.05). Overall, there was no significant difference in the incidence of major anomalies in patients with screen-positive test results versus those cases that were not identified by the triple test. Prenatal counseling should therefore reflect the general expectations of the Down syndrome phenotype that have been established from live-born infants with this disorder.
S Tanski; S S Rosengren; P A Benn
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  85     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1999 Jul 
Date Detail:
Created Date:  1999-09-30     Completed Date:  1999-09-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  123-6     Citation Subset:  IM    
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030-6140, USA.
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MeSH Terms
Abortion, Spontaneous
Chorionic Gonadotropin, beta Subunit, Human / analysis
Down Syndrome / diagnosis*,  genetics*
Estriol / analysis
Fetal Death
Heart Defects, Congenital / genetics
Predictive Value of Tests
Prenatal Diagnosis*
Risk Factors
alpha-Fetoproteins / analysis
Reg. No./Substance:
0/Chorionic Gonadotropin, beta Subunit, Human; 0/alpha-Fetoproteins; 50-27-1/Estriol

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