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First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing.
Ultrasound Obstet Gynecol 2013; 42(1):41-50UO

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

From singleton pregnancies undergoing screening for aneuploidies at three UK hospitals between March 2006 and May 2012, we analyzed prospectively collected data on the following biomarkers: fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV-PIV) at 11 + 0 to 13 + 6 weeks' gestation and serum free β-human chorionic gonadotropin (β-hCG), pregnancy-associated plasma protein-A (PAPP-A), placental growth factor (PlGF) and alpha-fetoprotein (AFP) at 8 + 0 to 13 + 6 weeks. Estimates of risk cut-offs, DRs and FPRs were derived for combinations of biomarkers and these were used to define the best strategy for contingent cfDNA testing.

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+Show Affiliations

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK. kypros@fetalmedicine.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23744626

Citation

Nicolaides, K H., et al. "First-trimester Contingent Screening for Trisomy 21 By Biomarkers and Maternal Blood Cell-free DNA Testing." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 42, no. 1, 2013, pp. 41-50.
Nicolaides KH, Wright D, Poon LC, et al. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2013;42(1):41-50.
Nicolaides, K. H., Wright, D., Poon, L. C., Syngelaki, A., & Gil, M. M. (2013). First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 42(1), pp. 41-50. doi:10.1002/uog.12511.
Nicolaides KH, et al. First-trimester Contingent Screening for Trisomy 21 By Biomarkers and Maternal Blood Cell-free DNA Testing. Ultrasound Obstet Gynecol. 2013;42(1):41-50. PubMed PMID: 23744626.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. AU - Nicolaides,K H, AU - Wright,D, AU - Poon,L C, AU - Syngelaki,A, AU - Gil,M M, Y1 - 2013/06/07/ PY - 2013/05/09/accepted PY - 2013/6/8/entrez PY - 2013/6/8/pubmed PY - 2014/5/6/medline SP - 41 EP - 50 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 42 IS - 1 N2 - 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: From singleton pregnancies undergoing screening for aneuploidies at three UK hospitals between March 2006 and May 2012, we analyzed prospectively collected data on the following biomarkers: fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV-PIV) at 11 + 0 to 13 + 6 weeks' gestation and serum free β-human chorionic gonadotropin (β-hCG), pregnancy-associated plasma protein-A (PAPP-A), placental growth factor (PlGF) and alpha-fetoprotein (AFP) at 8 + 0 to 13 + 6 weeks. Estimates of risk cut-offs, DRs and FPRs were derived for combinations of biomarkers and these were used to define the best strategy for contingent cfDNA testing. 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. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/23744626/First_trimester_contingent_screening_for_trisomy_21_by_biomarkers_and_maternal_blood_cell_free_DNA_testing_ L2 - https://doi.org/10.1002/uog.12511 DB - PRIME DP - Unbound Medicine ER -