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Rigshospitalet - a part of Copenhagen University Hospital
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Ten Years of Experience with First-Trimester Screening for Fetal Aneuploidy Employing Biochemistry from Gestational Weeks 6+0 to 13+6

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  2. Short-Term Flow Changes in Monochorionic Survivor Twins after Ultrasound-Guided Umbilical Cord Occlusion

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  3. Magnetic Resonance Imaging: A New Tool to Optimize the Prediction of Fetal Anemia?

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  1. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

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  2. Implementation of exome sequencing in fetal diagnostics - data and experiences from a tertiary center in Denmark

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  3. "It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

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  4. Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

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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.

Original languageEnglish
JournalFetal Diagnosis and Therapy
Volume37
Issue number1
Pages (from-to)51-57
Number of pages7
ISSN1015-3837
DOIs
Publication statusPublished - Jan 2015
Externally publishedYes

ID: 57105917