Document Detail

Second trimester maternal serum screening using alpha fetoprotein, free beta human chorionic gonadotropin and maternal age specific risk: result of chromosomal abnormalities detected in screen positive for Down syndrome in an Asian population.
MedLine Citation:
PMID:  10326883     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: This study was to determine the incidence of chromosome abnormalities in Taiwanese women undergoing prenatal chromosome analysis after a second trimester Down syndrome screening by using maternal age and serum dual-marker testing (alpha-fetoprotein and free-beta unit human chorionic gonadotropin). METHODS: A total of 10,098 Taiwanese women with pregnancy between 15 and 23 weeks' gestation received second-trimester Down syndrome risk evaluation by dual-marker and maternal age specific risk testing in a single medical center. The study took 22 months. Ninety-seven percent of this study population was less than 34 years old. Ninety-six percent of our cases were screened between 15-20 weeks of gestation. This population was included only after a routine ultrasonography scan for correction of gestational age and exclusion of major structural anomalies. By using an algorithm to detect Down's syndrome, with a risk of 1:270 as a cut-off value, 816 patients were screen-positive for Down syndrome (screen-positive rate 8.0%). Karyotypes were reviewed for 670 (82.1%) mothers who received prenatal karyotype analysis. RESULTS: Twelve cases of Down syndrome were identified in the screen positive group with an estimated detection rate of 67% (false positive rate 8%). Three cases of Down syndrome were detected in late trimester among the screen-negative group. Seven other fetal chromosome abnormalities were also found among the screen-positive pregnancy. In addition, seven cases were screen-positive for trisomy 18; all of these patients received amniocentesis and only one case was confirmed. CONCLUSION: These findings indicate that this screening program combining alpha-fetoprotein (AFP), free beta human chorionic gonadotropin (free-hCG) and maternal age-specific would achieve a screening efficiency in Taiwanese populations as comparable to those obtained in Caucasian populations. Our results also suggest that approximately 3% of pregnancies with a positive dual marker and maternal age-specific screen results will have a chromosome abnormality despite having a normal routine ultrasound scan. Mothers with positive screening results should be made aware of the implications of a positive result.
A S Chao; C L Chung; C D Wu; S D Chang; P J Cheng; Y T Lin; Y K Soong
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta obstetricia et gynecologica Scandinavica     Volume:  78     ISSN:  0001-6349     ISO Abbreviation:  Acta Obstet Gynecol Scand     Publication Date:  1999 May 
Date Detail:
Created Date:  1999-06-01     Completed Date:  1999-06-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370343     Medline TA:  Acta Obstet Gynecol Scand     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  393-7     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kwei-Shan, Tao-Yuan, Taiwan.
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MeSH Terms
Asian Continental Ancestry Group*
Chorionic Gonadotropin, beta Subunit, Human / blood*
Chromosome Aberrations / diagnosis*
Chromosome Disorders
Down Syndrome / diagnosis*
Gestational Age
Maternal Age*
Middle Aged
Pregnancy Trimester, Second
Prenatal Diagnosis*
Retrospective Studies
Risk Factors
alpha-Fetoproteins / analysis*
Reg. No./Substance:
0/Chorionic Gonadotropin, beta Subunit, Human; 0/alpha-Fetoproteins

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