Abstract | OBJECTIVE: To define risk cut-offs with corresponding detection rates (DR) and false-positive rates (FPR) in screening for trisomy 21 using maternal age and combinations of first-trimester biomarkers in order to determine which women should undergo contingent maternal blood cell-free (cf) DNA testing. METHODS: RESULTS: In contingent screening, detection of 98% of fetuses with trisomy 21 at an overall invasive testing rate < 0.5% can be potentially achieved by offering cfDNA testing to about 36%, 21% and 11% of cases identified by first-line screening using the combined test alone, using the combined test with the addition of serum PlGF and AFP and using the combined test with the addition of PlGF, AFP and DV-PIV, respectively. CONCLUSIONS: Effective first-trimester screening for trisomy 21, with DR of 98% and invasive testing rate < 0.5%, can be potentially achieved by contingent screening incorporating biomarkers and cfDNA testing.
|
Authors | K H Nicolaides, D Wright, L C Poon, A Syngelaki, M M Gil |
Journal | Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
(Ultrasound Obstet Gynecol)
Vol. 42
Issue 1
Pg. 41-50
(Jul 2013)
ISSN: 1469-0705 [Electronic] England |
PMID | 23744626
(Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
|
Copyright | Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd. |
Chemical References |
- Biomarkers
- Chorionic Gonadotropin, beta Subunit, Human
- DNA
- Pregnancy-Associated Plasma Protein-A
|
Topics |
- Adult
- Biomarkers
(blood)
- Cell-Free System
- Chorionic Gonadotropin, beta Subunit, Human
(metabolism)
- Cytogenetic Analysis
(methods)
- DNA
(blood, genetics)
- Down Syndrome
(diagnosis)
- Female
- Humans
- Maternal Age
- Nuchal Translucency Measurement
(methods)
- Pregnancy
- Pregnancy Trimester, First
- Pregnancy-Associated Plasma Protein-A
(metabolism)
- Prenatal Diagnosis
- Prospective Studies
- Surveys and Questionnaires
- Time Factors
- United Kingdom
(epidemiology)
|