Document Detail

Screening for chromosomal anomalies in the first trimester: does repeat maternal serum screening improve detection rates?
MedLine Citation:
PMID:  12378574     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To assess the within person biological variability of first trimester maternal serum biochemical markers of trisomy 21 across the 10-14 week gestational period. To evaluate whether repeat sampling and testing of free beta-hCG and PAPP-A during this period would result in an improved detection rate. METHODS: Women presenting at the first trimester OSCAR clinic have blood collected prior to ultrasound dating and nuchal translucency measurement. All samples are analysed for free beta-hCG and PAPP-A before an accurate estimate of gestation is available. In 10% of cases the gestation is prior to the minimum time for NT measurement (11 weeks) and these women are rebooked for a repeat visit to the clinic at the appropriate time. Our fetal database was interrogated to obtain cases in which two maternal blood samples had been collected and analysed in the 10-14 week period. Using data from the marker correlations and statistical modelling, the impact of repeat testing on detection rate for trisomy 21 at a fixed 5% false positive rate, was assessed. RESULTS: 261 pairs of data were available for analysis collected over a 3 year period. The correlation between free beta-hCG in sample 1 and sample 2 was 0.890 and that for PAPP-A was 0.827. The average within person biological variation for free beta-hCG was 21% and 32% for PAPP-A. The increase in detection rate when using both sets of marker data was 3.5% when using serum biochemistry and maternal age, and 1.3% when using nuchal translucency, serum biochemistry and maternal age. CONCLUSION: Repeat sampling and testing of maternal serum biochemical markers is unlikely to substantially improve first trimester screening performance.
Kevin Spencer; Howard S Cuckle
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  22     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-14     Completed Date:  2002-12-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  903-6     Citation Subset:  IM    
Copyright Information:
Copyright 2002 John Wiley & Sons, Ltd.
Clinical Biochemistry Department, Harold Wood Hospital, Gubbins Lane, Romford, Essex RM3 0BE, UK.
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MeSH Terms
Chorionic Gonadotropin, beta Subunit, Human / blood
Chromosome Aberrations*
False Positive Reactions
Gestational Age*
Maternal Age
Neck / embryology,  ultrasonography
Pregnancy-Associated Plasma Protein-A / analysis
Prenatal Diagnosis / methods*
Reproducibility of Results
Sensitivity and Specificity
Reg. No./Substance:
0/Chorionic Gonadotropin, beta Subunit, Human; EC 3.4.24.-/Pregnancy-Associated Plasma Protein-A

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