Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2013, vol. 22, nr 3, May-June, p. 395–401

Publication type: original article

Language: English

The Role of Ductus Venosus Doppler Flow in the Diagnosis of Chromosomal Abnormalities During the First Trimester of Pregnancy

Znaczenie oceny przepływu krwi w przewodzie żylnym w diagnostyce wad chromosomowych u płodu w I trymestrze ciąży

Jerzy Florjański1,A,D, Tomasz Fuchs1,B, Mariusz Zimmer1,E,F, Wojciech Homola1,D, Michał Pomorski1,C, Dominika Blok1,B

1 2nd Department of Gynecology and Obstetrics, Wroclaw Medical University, Poland

Abstract

Abstract
Background. The ductus venosus (dV) is an intrahepatic end-part of the umbilical vein. Inappropriate first trimes- ter dV doppler blood flow patterns correspond to a higher risk of chromosomal abnormalities.
Objectives. The aim of the study was to assess the usefulness of ductus venosus doppler flow in a first trimester screening for aneuploidies.
Material and Methods. a prospective study included 1526 singleton pregnancies with increased risk of chromo- somal abnormalities who underwent prenatal first trimester screening between the years 2006–2009. all ultrasound scans were performed by experienced sonographers and included an assessment of fetal growth, nuchal translu- cency (NT), nasal bone assessment (Nb) and ductus venosus (dV) blood flow. Reversed a-wave (atrial diastole) in the ductus venosus flow pattern was recognized as abnormal. In addition to dV blood flow, the levels of preg- nancy-associated plasma protein-a (PaPP-a) and free β – human chorionic gonadotropin (β-hcG) in maternal serum were measured. The risk of chromosomal abnormalities was calculated using the Fetal Medicine Foundation software. The following risk levels were assumed: high risk results – 1:100 or lower, intermediate risk 1:100–1:1000, and low risk above 1:1000. In 523 pregnancies, patients underwent amniocentesis and karyotyping.
Results. The authors diagnosed 46 cases with chromosomal abnormalities (using amniocentesis and karyotyping).
29 patients had spontaneous miscarriage, in 21 cases they reported fetuses with congenital malformations (mostly
heart defects). abnormal dV blood flow was recognized in 113 pregnant women (7.4%). The majority of cases
affected by abnormal dV blood flow were classified as intermediate and high disorder risk groups – 100 (6.5%).
The comparison between a combined test with and without dV assessment revealed that the addition of dV flow
pattern results increased sensitivity from 84% to 92% in screening for aneuploidies. The false-positive ratio was
between 0.4% and 2.4%.
Conclusions. ductus venosus doppler blood flow examination is useful in the first trimester prenatal diagnostic
since it increases the sensitivity of the combined test in the assessment of risk for chromosomal abnormalities. The
authors recommend assessing dV blood flow during the first trimester screening in all pregnancies, irrespectively
of the chromosomal abnormalities background risk. This procedure in clinical practice seems to be favorable and
less complicated (Adv Clin Exp Med 2013, 22, 3, 395–401).

 

Streszczenie

Streszczenie
Wprowadzenie. Przewód żylny (dV) jest naczyniem stanowiącym zakończenie części wewnątrzwątrobowej żyły pępowinowej. Nieprawidłowy przepływ dopplerowski w dV w I trymestrze ciąży wiąże się ze zwiększonym ryzy- kiem wystąpienia wad u płodu.
Cel pracy. Ocena przydatności badań dopplerowskich przepływu krwi w dV płodu w I trymestrze ciąży w ocenie ryzyka wystąpienia aneuploidii.
Materiał i metody. U 1526 ciężarnych w ciążach jednopłodowych w latach 2006–2009 wykonano badania prze- siewowe w ramach diagnostyki prenatalnej w I trymestrze ciąży. badania obejmowały pomiary wielkości płodów, przezierności karkowej (NT – nuchal translucency), kości nosowej (Nb – nasal bone) i przepływu krwi w dV. Za nieprawidłowy przepływ krwi w dV uznawano falę wsteczną w fazie skurczu przedsionków. W surowicy krwi ciężarnych oznaczano wolną podjednostkę β gonadotropiny kosmówkowej (hcG) oraz specyficzne białko ciążowe a (PaPP-a).  Ryzyko wystąpienia zaburzeń chromosomowych obliczano za pomocą programu Fetal Medicine Foundation. Za wysokie ryzyko wad chromosomowych uznawano wartości poniżej 1:100, średnie ryzyko 1:100–
–1:1000, a niskie – powyżej 1:1000. U 523 ciężarnych wykonano amniopunkcje z następową oceną cytogenetyczną.
Wyniki. Na podstawie badań genetycznych wykryto 46 ciężarnych z aberracjami chromosomowymi u płodów. U 29 ciężarnych doszło do poronienia samoistnego, u 21 – stwierdzono wady strukturalne u płodu (głównie wady serca). Nieprawidłowy przepływ w dV wykazano u 113 ciężarnych (7,4%), w większości w grupie średniego i wyso- kiego ryzyka wad – 100 ciężarnych (6,5%). Testy przesiewowe z wykorzystaniem badań przepływu krwi w dV, w porównaniu do testów bez badań w dV, wykazały wzrost czułości z 84 do 92% w ocenie ryzyka wystąpienia aneuploidii u płodów. Odsetek wyników fałszywie dodatnich wynosił (0,4–2,4%).
Wnioski. badania dopplerowskiego przepływu krwi w dV są przydatne w diagnostyce prenatalnej w I trymestrze ciąży, ponieważ zwiększają czułość testu zintegrowanego w ocenie ryzyka wystąpienia wad chromosomowych u płodów. Podczas badań przesiewowych w I trymestrze ciąży autorzy proponują ocenę przepływu krwi w dV u wszystkich ciężarnych, niezależnie od ryzyka wad chromosomowych. Takie postępowanie w praktyce wydaje się prostsze i korzystniejsze (Adv Clin Exp Med 2013, 22, 3, 395–401).
 

Key words

Key words: ductus venosus, doppler, chromosomal abnormalities.

Słowa kluczowe

Słowa kluczowe: przewód żylny, doppler, wady chromosomowe.

References (26)

  1. Merz E: Ultrasound diagnostic in the obstetrics and gynecology – ed. pol. Zalewski J, Florjański J. Urban & Partner, Wrocław 2004, 477–499.
  2. Węgrzyn P, Fiegler P, Kamiński K: doppler measurements of blood flow velocity and waveforms in fetal venous circulation. Ginekol Pol 2004, 75, 153–159.
  3. Teixeira LS, Leite J, Vegas MJBC, Faria MML, Chaves AS, Teixera RC, Pires MC, Pettersen H: ductus venosus doppler velocimetry in the first trimester: a new finding. Ultrasound Obstet Gynecol 2008, 31, 261–265.
  4. Maiz N, Kagan KO, Milovanovic Z, Celik E, Nicolaides KH: learning curve for doppler assessment of ductus venosus flow at 11+0 to 13+6 weeks’ gestation. Ultrasound Obstet Gynecol 2008, 31, 503–506.
  5. Bahlmann F, Wellek S, Reinhardt I, Merz E, Steiner E, Welter E: Reference values of ductus venosus flow velocity waveforms and various calculated waveform indices. Prenat diagn 2000, 20, 623–634.
  6. Tchirikov M, Schraeder HJ, Hecher K: ductus venosus shunting in the fetal venous circulation: regulatory mechanisms, diagnostic methods and importance. Ultrasound Obstet Gynecol 2006, 27, 452–461.
  7. Carvalho FH, Moron AF, Mattar R, Santana RM, Murta CG, Barbosa MM, Torloni MR, Vasques FA: ductus venosus doppler velocimetry in the prediction of acidemia at birth: which is the best parameter? Prenat diagn 2005, 25, 1212–1216.
  8. Jakobovits A: Sonographic evaluation of the circulation in the ductus venosus arantii. Orv Hetil 2005, 146, 1301– 1304.
  9. Becker R, Wegner RD: detailed screening for fetal anomalies and cardiac defects at the 11–13 week scan. Ultrasound Obstet Gynecol 2006, 27, 613–618.
  10. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH: Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free β-hcG and pregnancy-associated plasma protein-a. Hum Reprod 2008, 23, 1968–1975.
  11. Poon LC, Kametas NA, Maiz N, Akolekar R, Nicolaides KH: First-trimester prediction of hypertensive disorders in pregnancy. Hypertension 2009, 53, 812–818.
  12. Oh C, Harman C, Baschat AA: abnormal first-trimester ductus venosus blood flow: a risk factor for adverse outcome in fetuses with normal nuchal translucency. Ultrasound Obstet Gynecol 2007, 30, 192–196.
  13. Maiz N, Valencia C, Emmanuel EE, Staboulidou I, Nicolaides KH: Screening for adverse pregnancy outcome by ductus venosus doppler at 11–13+6 weeks of gestation. Obstet Gynecol 2008, 112, 598–605.
  14. Maiz N, Staboulidou I, Leal AM, Minekawa R, Nicolaides KH: ductus venosus doppler at 11 to 13 weeks of gestation in the prediction of outcome in twin pregnancies. Obstet Gynecol 2009, 113, 860–865.
  15. Baś-Budecka E, Perenc M, Sieroszewski P: The role of fetal nuchal translucency (NT) and ductus venosus blood flow (dV) in the detection of congenital heart defects. Ginekol Pol 2010, 4, 272–276.
  16. Papatheodorou SI, Evangelou E, Makrydimas G, Ioannidis JPA: First-trimester ductus venosus screening for cardiac defects: a meta-analysis. bJOG 2011, 181, 1438–1445.
  17. Martinez JM, Comas M, Borrell A, Bennasar M, Gomez O, Puerto B, Gratacos E: abnormal first-trimester ductus venosus blood flow: a marker of cardiac defects in fetuses with normal karyotype and nuchal translucency. Ultrasound Obstet Gynecol 2010, 35, 267–272.
  18. Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH: 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, 512–517.
  19. 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, 65–71.
  20. Borrell A, Gonce A, Martinez JM, Borobio V, Fortuny A, Coll O, Cuckle H: First-trimester screening for down syndrome with ductus venosus doppler studies in addition to nuchal translucency and serum markers. Prenat diagn 2005, 25, 901–905.
  21. Florjański J, Zalewski J, Barwiński I, Heimrath J, Nowak M, Blok D: Usefulness of some ultrasonographic markers in the assessment of risk of aneuploidy in fetuses in the first trimester of pregnancy. adv clin exp Med 2004, 13, 11–14.
  22. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O: Multicenter study of first-trimester screening for trisomy 21 in 75821 pregnancies: results and estimation of the potential impact of individual risk-orientated twostage first-trimester screening. Ultrasound Obstet Gynecol 2005, 25, 221–226.
  23. Toyama JM, Brizol ML, Liao AW, Lopes LM, Nomura RM, Saldanha FA, Zugaib M: ductus venosus blond flow assessment at 11 to 14 weeks of gestation and fetal outcome. Ultrasound Obstet Gynecol 2004, 23, 341–345.
  24. Prefumo F, Sethna F, Sairam S, Bhide A, Thilaganathan B: First-trimester ductus venosus, nasal bones, and down Syndrome in high-risk population. Obstet Gynecol 2005, 105, 1348–1354.
  25. Zoppi MA, Putzolu M, Ibba RM, Floris M, Monni G: First-trimester ductus venosus velocimetry in relation to nuchal translucency thickness and fetal karyotype. Fetal diagn Ther 2002, 17, 52–57.
  26. Borrell A, Borobio V, Bestwick JP, Wald NJ: ductus venosus pulsatility index as an antenatal screening marker for down’s syndrome use with the combined and integrated tests. J Med Screen 2009, 16, 12–118.
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