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First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing.
Fetal Diagn Ther 2014; 35(3):185-92FD

Abstract

OBJECTIVE

To examine potential performance of screening for trisomies by cell-free (cf) DNA testing in maternal blood contingent on results of first-line testing by combinations of fetal translucency thickness (NT), fetal heart rate (FHR), ductus venosus pulsatility index (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

Performance was estimated for firstly, screening by cfDNA in all pregnancies and secondly, cfDNA testing contingent on results of first-line testing by combinations of ultrasound and biochemical markers.

RESULTS

In first-line screening by cfDNA testing, the detection rate for trisomy 21 and trisomies 18 or 13 would be 99 and 96%, respectively, after invasive testing in 1% of the population. In contingent screening, a detection rate of 98% for trisomy 21 and 96% for trisomy 18 or 13, at an invasive testing rate of 0.7%, can be achieved by carrying out cfDNA testing in about 35, 20 and 11% of cases identified by first-line screening with the combined test alone (age, NT, FHR, β-hCG, PAPP-A), the combined test plus PLGF and AFP and the combined test plus PLGF, AFP and DV PIV, respectively.

CONCLUSIONS

Effective first-trimester screening for trisomies can be achieved by contingent screening incorporating biomarkers and cfDNA testing.

Authors+Show Affiliations

Harris Birthright Research Centre of Fetal Medicine, King's College Hospital, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

24192489

Citation

Nicolaides, K H., et al. "First-trimester Contingent Screening for Trisomies 21, 18 and 13 By Biomarkers and Maternal Blood Cell-free DNA Testing." Fetal Diagnosis and Therapy, vol. 35, no. 3, 2014, pp. 185-92.
Nicolaides KH, Syngelaki A, Poon LC, et al. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther. 2014;35(3):185-92.
Nicolaides, K. H., Syngelaki, A., Poon, L. C., Gil, M. M., & Wright, D. (2014). First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagnosis and Therapy, 35(3), pp. 185-92. doi:10.1159/000356066.
Nicolaides KH, et al. First-trimester Contingent Screening for Trisomies 21, 18 and 13 By Biomarkers and Maternal Blood Cell-free DNA Testing. Fetal Diagn Ther. 2014;35(3):185-92. PubMed PMID: 24192489.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. AU - Nicolaides,K H, AU - Syngelaki,A, AU - Poon,L C, AU - Gil,M M, AU - Wright,D, Y1 - 2013/10/26/ PY - 2013/08/28/received PY - 2013/09/18/accepted PY - 2013/11/7/entrez PY - 2013/11/7/pubmed PY - 2015/2/7/medline SP - 185 EP - 92 JF - Fetal diagnosis and therapy JO - Fetal. Diagn. Ther. VL - 35 IS - 3 N2 - OBJECTIVE: To examine potential performance of screening for trisomies by cell-free (cf) DNA testing in maternal blood contingent on results of first-line testing by combinations of fetal translucency thickness (NT), fetal heart rate (FHR), ductus venosus pulsatility index (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: Performance was estimated for firstly, screening by cfDNA in all pregnancies and secondly, cfDNA testing contingent on results of first-line testing by combinations of ultrasound and biochemical markers. RESULTS: In first-line screening by cfDNA testing, the detection rate for trisomy 21 and trisomies 18 or 13 would be 99 and 96%, respectively, after invasive testing in 1% of the population. In contingent screening, a detection rate of 98% for trisomy 21 and 96% for trisomy 18 or 13, at an invasive testing rate of 0.7%, can be achieved by carrying out cfDNA testing in about 35, 20 and 11% of cases identified by first-line screening with the combined test alone (age, NT, FHR, β-hCG, PAPP-A), the combined test plus PLGF and AFP and the combined test plus PLGF, AFP and DV PIV, respectively. CONCLUSIONS: Effective first-trimester screening for trisomies can be achieved by contingent screening incorporating biomarkers and cfDNA testing. SN - 1421-9964 UR - https://www.unboundmedicine.com/medline/citation/24192489/First_trimester_contingent_screening_for_trisomies_21_18_and_13_by_biomarkers_and_maternal_blood_cell_free_DNA_testing_ L2 - https://www.karger.com?DOI=10.1159/000356066 DB - PRIME DP - Unbound Medicine ER -