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Fetal Diagn Ther. 2015;37(1):51-7. doi: 10.1159/000362665. Epub 2014 Aug 16.

Ten years of experience with first-trimester screening for fetal aneuploidy employing biochemistry from gestational weeks 6+0 to 13+6.

Author information

1
Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

Abstract

OBJECTIVES:

To validate the performance of first-trimester screening for fetal aneuploidy employing blood samples drawn in gestational weeks 6-13.

METHODS:

Prospective combined first-trimester screening for fetal aneuploidy in Denmark was validated in two large datasets: (1) a dataset from the Central Denmark Region including 147,768 pregnancies from October 2003 to October 2013, and (2) a national dataset including 220,739 pregnancies from January 2008 to August 2011.

RESULTS:

For trisomy 21, the weekly median multiple of the median (MoM) increased from 0.37 in week 6 to 0.70 in week 13 (pregnancy-associated plasma protein-A), and from 0.99 in week 6 to 2.68 in week 13 (free βhCG). The overall detection rate (DR) for fetal trisomy 21 was 91.2%. Employing blood samples from gestational week 9, the DR was 97% (p = 0.05). For fetal trisomy 18, trisomy 13 and triploidy, the overall DRs after first-trimester screening were 79.5, 86 and 85%. In the national dataset, the overall DR for trisomy 21 was 86.3% ranging from 89 (weeks 9 and 10) to 80% (weeks 12 and 13).

CONCLUSION:

The results from both datasets show that blood sampling in gestational weeks 9-10 is a robust and high-performance strategy, which can be applied for routine first-trimester screening in clinical practice. © 2014 S. Karger AG, Basel.

PMID:
25138113
DOI:
10.1159/000362665
[Indexed for MEDLINE]

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