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First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.
Ultrasound Obstet Gynecol 2015; 45(1):42-7UO

Abstract

OBJECTIVE

To examine performance of screening for major trisomies by a policy of first-line assessment of risk according to maternal age, fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV-PIV) followed by cell-free DNA (cfDNA) testing in pregnancies with an intermediate risk.

METHODS

We estimated the distribution of risks based on maternal age, fetal NT and DV-PIV in a dataset of 86 917 unaffected and 491 trisomic pregnancies undergoing prospective screening for trisomies. Performance of screening for trisomies by cfDNA testing was derived from a meta-analysis of clinical validation studies. We estimated performance and cost of screening for trisomies using different combinations of ultrasound screening and cfDNA testing.

RESULTS

Screening for trisomies 21, 18 and 13 according to a combination of maternal age, fetal NT and DV-PIV in all pregnancies, followed by invasive testing in the high-risk group (≥ 1:10) and cfDNA testing in the intermediate-risk group (1:11-1:3000) can potentially detect about 96%, 95% and 91% of cases, respectively, with a false-positive rate (FPR) of 0.8%. On the assumption that the costs for ultrasound screening, cfDNA testing and invasive testing are €150, €500 and €1000, respectively, the overall cost of such a policy would be about €250 per patient. The alternative policy, of universal screening by cfDNA testing, can potentially detect about 99%, 97% and 92% of cases of trisomies 21, 18 and 13, but at an overall cost of more than €500 per patient.

CONCLUSION

Incorporation of cfDNA testing into a contingent policy of early screening for the major trisomies, based on the risk derived from first-line screening by a combination of maternal age, fetal NT and DV-PIV, can detect a high proportion of affected cases with a low FPR.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, University of Tuebingen, Tuebingen, Germany.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

25307357

Citation

Kagan, K O., et al. "First-trimester Contingent Screening for Trisomies 21, 18 and 13 By Fetal Nuchal Translucency and Ductus Venosus Flow 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. 45, no. 1, 2015, pp. 42-7.
Kagan KO, Wright D, Nicolaides KH. First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol. 2015;45(1):42-7.
Kagan, K. O., Wright, D., & Nicolaides, K. H. (2015). First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 45(1), pp. 42-7. doi:10.1002/uog.14691.
Kagan KO, Wright D, Nicolaides KH. First-trimester Contingent Screening for Trisomies 21, 18 and 13 By Fetal Nuchal Translucency and Ductus Venosus Flow and Maternal Blood Cell-free DNA Testing. Ultrasound Obstet Gynecol. 2015;45(1):42-7. PubMed PMID: 25307357.
* 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 fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. AU - Kagan,K O, AU - Wright,D, AU - Nicolaides,K H, Y1 - 2014/11/28/ PY - 2014/09/19/received PY - 2014/10/04/revised PY - 2014/10/08/accepted PY - 2014/10/14/entrez PY - 2014/10/14/pubmed PY - 2015/9/15/medline KW - cell-free DNA KW - ductus venosus flow KW - first-trimester screening KW - nuchal translucency KW - trisomy SP - 42 EP - 7 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 45 IS - 1 N2 - OBJECTIVE: To examine performance of screening for major trisomies by a policy of first-line assessment of risk according to maternal age, fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV-PIV) followed by cell-free DNA (cfDNA) testing in pregnancies with an intermediate risk. METHODS: We estimated the distribution of risks based on maternal age, fetal NT and DV-PIV in a dataset of 86 917 unaffected and 491 trisomic pregnancies undergoing prospective screening for trisomies. Performance of screening for trisomies by cfDNA testing was derived from a meta-analysis of clinical validation studies. We estimated performance and cost of screening for trisomies using different combinations of ultrasound screening and cfDNA testing. RESULTS: Screening for trisomies 21, 18 and 13 according to a combination of maternal age, fetal NT and DV-PIV in all pregnancies, followed by invasive testing in the high-risk group (≥ 1:10) and cfDNA testing in the intermediate-risk group (1:11-1:3000) can potentially detect about 96%, 95% and 91% of cases, respectively, with a false-positive rate (FPR) of 0.8%. On the assumption that the costs for ultrasound screening, cfDNA testing and invasive testing are €150, €500 and €1000, respectively, the overall cost of such a policy would be about €250 per patient. The alternative policy, of universal screening by cfDNA testing, can potentially detect about 99%, 97% and 92% of cases of trisomies 21, 18 and 13, but at an overall cost of more than €500 per patient. CONCLUSION: Incorporation of cfDNA testing into a contingent policy of early screening for the major trisomies, based on the risk derived from first-line screening by a combination of maternal age, fetal NT and DV-PIV, can detect a high proportion of affected cases with a low FPR. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/25307357/First_trimester_contingent_screening_for_trisomies_21_18_and_13_by_fetal_nuchal_translucency_and_ductus_venosus_flow_and_maternal_blood_cell_free_DNA_testing_ L2 - https://doi.org/10.1002/uog.14691 DB - PRIME DP - Unbound Medicine ER -