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.
| Original language | English |
|---|---|
| Journal | Fetal Diagnosis and Therapy |
| Volume | 37 |
| Issue number | 1 |
| Pages (from-to) | 51-57 |
| ISSN | 1015-3837 |
| DOIs | |
| Publication status | Published - 6 Feb 2015 |
| Externally published | Yes |
Keywords
- Aneuploidy
- Chromosome Disorders/blood
- Female
- Humans
- Mass Screening
- Pregnancy
- Pregnancy Trimester, First/blood
- Pregnancy-Associated Plasma Protein-A/metabolism
- Prenatal Diagnosis/methods
- Prospective Studies