Literature DB >> 24356462

First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing.

D Wright1, A Syngelaki, I Bradbury, R Akolekar, K H Nicolaides.   

Abstract

OBJECTIVE: To examine the performance of screening for trisomies 21, 18 and 13 at 11-13 weeks' gestation using specific algorithms for these trisomies based on combinations of fetal nuchal translucency thickness (NT), fetal heart rate (FHR), ductus venosus pulsatility index for veins (DV PIV), and serum free β-human chorionic gonadotropin (β-hCG), pregnancy-associated plasma protein A (PAPP-A), placental growth factor (PLGF) and α-fetoprotein (AFP).
METHODS: Model-based estimates of screening performance were produced for the distribution of maternal ages in England and Wales in 2011, and prospectively collected data on fetal NT, FHR, DV PIV, β-hCG, PAPP-A, PLGF and AFP from singleton pregnancies undergoing aneuploidy screening.
RESULTS: In screening by NT, FHR, free β-hCG and PAPP-A, using specific algorithms for trisomy 21 and trisomies 18 and 13 at the risk cutoff of 1:100, the estimated detection rate (DR) was 87.0% for trisomy 21 and 91.8% for trisomies 18 and 13, at a false-positive rate (FPR) of 2.2%. Addition of PLGF, AFP and DV PIV increased the DR to 93.3% for trisomy 21 and 95.4% for trisomies 18 and 13 and reduced the FPR to 1.3%.
CONCLUSIONS: Effective screening for trisomies can be achieved using specific algorithms based on NT, FHR, DV PIV, β-hCG, PAPP-A, PLGF and AFP.
© 2013 S. Karger AG, Basel.

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Year:  2013        PMID: 24356462     DOI: 10.1159/000357430

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  14 in total

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2.  The IONA® Test: Development of an Automated Cell-Free DNA-Based Screening Test for Fetal Trisomies 13, 18, and 21 That Employs the Ion Proton Semiconductor Sequencing Platform.

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3.  Isolated 'soft signs' of fetal choroid plexus cysts or echogenic intracardiac focus - consequences of their continued reporting.

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4.  Down's Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters.

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Review 5.  Early prediction of preeclampsia.

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7.  Explore the dynamic alternation of gene PLAC4 mRNA expression levels in maternal plasma in second trimester for nonivasive detection of trisomy 21.

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Review 8.  Combined Screening for Early Detection of Pre-Eclampsia.

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9.  Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.

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10.  IONA test for first-trimester detection of trisomies 21, 18 and 13.

Authors:  L C Poon; D Dumidrascu-Diris; C Francisco; I Fantasia; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2015-12-28       Impact factor: 7.299

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