open access

Vol 88, No 9 (2017)
Research paper
Published online: 2017-09-29
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Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV — the assessment of efficacy

Bartosz Czuba1, Dariusz Zarotyński2, Mariusz Dubiel3, Dariusz Borowski4, Piotr Węgrzyn5, Wojciech Cnota1, Małgorzata Reska-Nycz1, Marek Mączka6, Mirosław Wielgoś4, Krzysztof Sodowski1, Dawid Serafin1, Anna Kubaty7, Grzegorz H. Bręborowicz8
·
Pubmed: 29057433
·
Ginekol Pol 2017;88(9):481-485.
Affiliations
  1. Department of Obstetrics and Gynecology in Ruda Slaska, Medical University of Silesia, Poland
  2. The Rafal Czerwiakowski Gynecological-Obstetrical Hospital, Krakow, Poland
  3. Department of Maternal-Fetal Medicine and Gynecology, Chair of Obstetrics, Bydgoszcz, Poland
  4. 1st Department of Obstetrics and Gynaecology, Medical University of Warsaw, Poland, Poland
  5. Department of Obstetrics and Perinatology, Medical University of Warsaw, Zwirki i Wigury Str 63a, 02-091 Warsaw, Poland
  6. Gynecological-Obstetrical Hospital in Opole, Poland
  7. Department of Obstetrics, Gynecology and Oncology, The Gabiel Narutowicz Hospital, Krakow, Poland
  8. Department of the Perinatology and Gynecology, Poznan University of Medical Sciences, Poland

open access

Vol 88, No 9 (2017)
ORIGINAL PAPERS Obstetrics
Published online: 2017-09-29

Abstract

Objectives: The aim of the study was to compare effects of addition of two methods of ductus venosus (DV) flow assessment: qualitative — the assessment of shape of the A-wave (positive or negative), and quantitative — based on the pulsatility index for veins (DVPI) to the basic screening for trisomy 21 at 11 to 13 + 6 weeks of pregnancy.

Material and methods: The ultrasound examination was performed in 8230 fetuses in singleton pregnancies at 11– –13 + 6 wks, as a part of a routine screening for chromosomal defects. In DV A-wave was assessed and DVPI was calculated. After the scan blood sample was taken for first trimester biochemistry (BC). Risk for chromosomal defects was calculated and high-risk patients were offered an invasive test for karyotyping.

Results: Basic screening with following combination of markers: MA, NT and BC provided lowest detection rate (DR) 87.50% for FPR = 6.94%. After adding qualitative DV A-wave assessment DR increased to 88.75% for FPR = 5.65%. The best DR = 93.75% for FPR = 5.55% was achieved when quantitative DVPI was added. The application of the Receiver Operating Curves curve confirmed validity of the addition of DV flow assessment to the screening model. The highest diagnostic power of the test was achieved when DVPI was added, with the ROC AUC of 0.974.

Conclusions: The assessment of DV flow performed at 11–13 + 6 weeks increases DR for trisomy 21 and reduces FPR. The screening model based on the quantitative DV flow analysis (DVPI) gives better results compared to the qualitative flow assessment.

Abstract

Objectives: The aim of the study was to compare effects of addition of two methods of ductus venosus (DV) flow assessment: qualitative — the assessment of shape of the A-wave (positive or negative), and quantitative — based on the pulsatility index for veins (DVPI) to the basic screening for trisomy 21 at 11 to 13 + 6 weeks of pregnancy.

Material and methods: The ultrasound examination was performed in 8230 fetuses in singleton pregnancies at 11– –13 + 6 wks, as a part of a routine screening for chromosomal defects. In DV A-wave was assessed and DVPI was calculated. After the scan blood sample was taken for first trimester biochemistry (BC). Risk for chromosomal defects was calculated and high-risk patients were offered an invasive test for karyotyping.

Results: Basic screening with following combination of markers: MA, NT and BC provided lowest detection rate (DR) 87.50% for FPR = 6.94%. After adding qualitative DV A-wave assessment DR increased to 88.75% for FPR = 5.65%. The best DR = 93.75% for FPR = 5.55% was achieved when quantitative DVPI was added. The application of the Receiver Operating Curves curve confirmed validity of the addition of DV flow assessment to the screening model. The highest diagnostic power of the test was achieved when DVPI was added, with the ROC AUC of 0.974.

Conclusions: The assessment of DV flow performed at 11–13 + 6 weeks increases DR for trisomy 21 and reduces FPR. The screening model based on the quantitative DV flow analysis (DVPI) gives better results compared to the qualitative flow assessment.

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Keywords

screening for chromosomal defects, 11 to 13 + 6 weeks scan, trisomy 21, ductus venosus

About this article
Title

Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV — the assessment of efficacy

Journal

Ginekologia Polska

Issue

Vol 88, No 9 (2017)

Article type

Research paper

Pages

481-485

Published online

2017-09-29

Page views

1400

Article views/downloads

1550

DOI

10.5603/GP.a2017.0088

Pubmed

29057433

Bibliographic record

Ginekol Pol 2017;88(9):481-485.

Keywords

screening for chromosomal defects
11 to 13 + 6 weeks scan
trisomy 21
ductus venosus

Authors

Bartosz Czuba
Dariusz Zarotyński
Mariusz Dubiel
Dariusz Borowski
Piotr Węgrzyn
Wojciech Cnota
Małgorzata Reska-Nycz
Marek Mączka
Mirosław Wielgoś
Krzysztof Sodowski
Dawid Serafin
Anna Kubaty
Grzegorz H. Bręborowicz

References (21)
  1. Cnota W, Borowski D, Wloch A, et al. Pomiar kąta twarzowo-szczękowego u płodów pomiędzy 11+0 a 13+6 tygodniem ciąży. Zastosowanie w diagnostyce prenatalnej trisomii 21. Ginekol Pol. 2013; 84(7): 624–9.
  2. Czuba B, Cnota W, Wloch A, et al. Frontomaxillary facial angle measurement in screening for trisomy 18 at 11 + 0 to 13 + 6 weeks of pregnancy: a double-centre study. Biomed Res Int. 2013; 2013: 168302.
  3. Wright D, Syngelaki A, Bradbury I, et al. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther. 2014; 35(2): 118–126.
  4. Nicolaides KH. A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment. Prenat Diagn. 2011; 31(1): 3–6.
  5. Maiz N, Wright D, Ferreira AF, et al. A mixture model of ductus venosus pulsatility index in screening for aneuploidies at 11-13 weeks' gestation. Fetal Diagn Ther. 2012; 31(4): 221–229.
  6. Chelemen T, Syngelaki A, Maiz N, et al. Contribution of ductus venosus Doppler in first-trimester screening for major cardiac defects. Fetal Diagn Ther. 2011; 29(2): 127–134.
  7. Maiz N, Valencia C, Emmanuel EE, et al. Screening for adverse pregnancy outcome by ductus venosus Doppler at 11-13+6 weeks of gestation. Obstet Gynecol. 2008; 112(3): 598–605.
  8. Maiz N, Valencia C, Kagan KO, et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol. 2009; 33(5): 512–517.
  9. 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): 42–47.
  10. Nicolaides K. Screening for fetal aneuploidies at 11 to 13 weeks. Prenatal Diagnosis. 2011; 31(1): 7–15.
  11. Mula R, Grande M, Bennasar M, et al. Further insights into diastolic dysfunction in first-trimester trisomy-21 fetuses. Ultrasound Obstet Gynecol. 2015; 45(2): 205–210.
  12. Seckin KD, Karslı MF, Baser E, et al. Obstetric outcomes in pregnancies with normal nuchal translucency and abnormal ductus venosus Doppler in the first trimester ultrasonography. J Obstet Gynaecol. 2016; 36(4): 440–443.
  13. Kagan KO, Wright D, Spencer K, et al. First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol. 2008; 31(5): 493–502.
  14. Kagan KO, Staboulidou I, Cruz J, et al. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing. Ultrasound Obstet Gynecol. 2010; 36(5): 542–547.
  15. Prefumo F, Sethna F, Sairam S, et al. First-trimester ductus venosus, nasal bones, and Down syndrome in a high-risk population. Obstet Gynecol. 2005; 105(6): 1348–1354.
  16. Matias A, Huggon I, Areias JC, et al. Cardiac defects in chromosomally normal fetuses with abnormal ductus venosus blood flow at 10-14 weeks. Ultrasound Obstet Gynecol. 1999; 14(5): 307–310.
  17. Maiz N, Nicolaides KH. Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications. Fetal Diagn Ther. 2010; 28(2): 65–71.
  18. Timmerman E, Clur SA, Pajkrt E, et al. First-trimester measurement of the ductus venosus pulsatility index and the prediction of congenital heart defects. Ultrasound Obstet Gynecol. 2010; 36(6): 668–675.
  19. Timmerman E, Oude Rengerink K, Pajkrt E, et al. Ductus venosus pulsatility index measurement reduces the false-positive rate in first-trimester screening. Ultrasound Obstet Gynecol. 2010; 36(6): 661–667.
  20. Wagner P, Sonek J, Klein J, et al. First-trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency, and different methods of ductus venosus assessment. Prenat Diagn. 2017; 37(7): 680–685.
  21. Abele H, Wagner P, Sonek J, et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn. 2015; 35(12): 1182–1186.

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