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Sonographic Features and Perinatal Outcomes in Fetuses with Ductus Venosus Agenesis: Single Center Experience

Year 2025, Volume: 6 Issue: 1, 8 - 16, 31.01.2025
https://doi.org/10.56766/ntms.1555333

Abstract

Objective: The purpose of this study is to evaluate the prenatal sonographic features and postnatal outcomes in fetuses with ductus venosus agenesis (DVA) in a tertiary center.
Material and Methods: We performed a retrospective study of 15 consecutive cases of DVA diagnosed in our perinatology department between January 2020 and October 2023. All clinic records, fetal echocardiograms, any accompanying anomalies, obstetrical ultrasounds, and postnatal echocardiograms were reviewed.
Results: Of the 15 cases detected, umbilical vein had extrahepatic type connection in 8 fetuses (53.3%) and intrahepatic type connection in 7 fetuses (46.7%). 11 patients had associated anomalies including hydrops (n=3, 20%), cardiac (n=6, 40%), extracardiac structural (n=7, 46.7%) and chromosomal anomalies (n=3, 20%). In our patient group, only 4 cases (26.7%) presented with isolated DVA, of which 3 had intrahepatic type connection. Prenatal genetic testing including karyotype and microarray was performed in 8 patients (53.3%) and 3 (20%) of them had abnormal results. 4 women (26.7%) underwent legal termination of pregnancy. There were 2 (13.3%) neonatal deaths, and the remaining 9 cases (60%) were alive at last follow-up.
Conclusion: DVA is associated with cardiac, extracardiac, and genetic anomalies independent of the site of umbilical venous connection. Postnatal outcomes in cases with DVA depend on the presence of additional anomalies. Fetuses with DVA and extrahepatic connection have additional risk for cardiac failure, hydrops and portal venous system agenesis which worsen the outcomes. DVA cases with intrahepatic connection associated with no or minor anomaly tend to have more favorable outcomes.

References

  • 1. Kiserud T, Acharya G. The fetal circulation. Prenat Diagn. 2004;24(13):1049-59
  • 2. Pacheco D, Brandão O, Montenegro N, Matias A. Ductus venosus agenesis and fetal malformations: what can we expect?-a systematic review of the literature. J Perinat Med. 2018;47(1):1-11.
  • 3. Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, Martinelli P. Absent ductus venosus: case series from two tertiary centres. J Matern Fetal Neonatal Med. 2018;31(18):2478-2483.
  • 4. Born M. The ductus venosus. Rofo. 2021;193(5):521-26.
  • 5. Matias A, Montenegro N. Ductus venosus blood flow in chromosomally abnormal fetuses at 11 to 14 weeks of gestation. Semin Perinatol. 2001;25(1):32-37.
  • 6. Chelemen T, Syngelaki A, Maiz N, Allan L, Nicolaides KH. Contribution of ductus venosus Doppler in first-trimester screening for major cardiac defects. Fetal Diagn Ther. 2011;29(2):127-34.
  • 7. Society for Maternal-Fetal Medicine Publications Committee; Berkley E, Chauhan SP, Abuhamad A. Doppler assessment of the fetus with intrauterine growth restriction. Am J Obstet Gynecol. 2012;206(4):300-308.
  • 8. Garcia-Delgado R, Garcia-Rodriguez R, Romero Requejo A, et al. Echographic features and perinatal outcomes in fetuses with congenital absence of ductus venosus. Acta Obstet Gynecol Scand. 2017;96(10):1205-13.
  • 9. Strizek B, Zamprakou A, Gottschalk I, et al. Prenatal diagnosis of agenesis of ductus venosus: A retrospective study of anatomic variants, associated anomalies and impact on postnatal outcome. Ultraschall Med. 2019;40(3):333-39.
  • 10. Chan ES, Suchet I, Yu W, Somerset D, et al. Absence of ductus venosus: A comparison of 2 distinctive fetal autopsy cases and embryologic perspectives. Pediatr Dev Pathol. 2024;27(2):139-47.
  • 11. Rajachander N, Andrew C, Shalini CNS, Gopal S. Ductus venosus agenesis: Ultrasound diagnosis and outcome. J South Asian Feder Obstet Gynae. 2021;13(3):156-62.
  • 12. Dhingra B, Makam A. Agenesis of ductus venosus: a case series. J Fetal Med. 2020;7(2):149-54.
  • 13. Kiserud T. The ductus venosus. Semin Perinatol. 2001;25(1):11-20.
  • 14. Contratti G, Banzi C, Ghi T, Perolo A, Pilu G, Visentin A. Absence of the ductus venosus: report of 10 new cases and review of the literature. Ultrasound Obstet Gynecol. 2001;18(6):605-609.
  • 15. Tchirikov M, Eisermann K, Rybakowski C, Schröder HJ. Doppler ultrasound evaluation of ductus venosus blood flow during acute hypoxemia in fetal lambs. Ultrasound Obstet Gynecol. 1998;11(6):426-31.
  • 16. Fasouliotis SJ, Achiron R, Kivilevitch Z, Yagel S. The human fetal venous system: normal embryologic, anatomic, and physiologic characteristics and developmental abnormalities. J Ultrasound Med. 2002;21(10):1145-58.
  • 17. Moaddab A, Tonni G, Grisolia G, et al. Predicting outcome in 259 fetuses with agenesis of ductus venosus - A multicenter experience and systematic review of the literature. J Matern Fetal Neonatal Med. 2016;29(22):3606-14.
  • 18. Staboulidou I, Pereira S, Cruz Jde J, Syngelaki A, Nicolaides KH. Prevalence and outcome of absence of ductus venosus at 11(+0) to 13(+6) weeks. Fetal Diagn Ther. 2011;30(1):35-40.
  • 19. Iliescu DG, Cara ML, Tudorache, et al. Agenesis of ductus venosus in sequential first and second trimester screening. Prenat Diagn. 2014;34(11):1099-105.
  • 20. Acherman RJ, Evans WN, Galindo A, et al. Diagnosis of absent ductus venosus in a population referred for fetal echocardiography: association with a persistent portosystemic shunt requiring postnatal device occlusion. J Ultrasound Med. 2007;26(8):1077-82.
  • 21. Berg C, Kamil D, Geipel A, et al. Absence of ductus venosus-importance of umbilical venous drainage site. Ultrasound Obstet Gynecol. 2006;28(3):275-81.
  • 22. Jaeggi ET, Fouron JC, Hornberger LK, et al. Agenesis of the ductus venosus that is associated with extrahepatic umbilical vein drainage: prenatal features and clinical outcome. Am J Obstet Gynecol. 2002;187(4):1031-37.
  • 23. Volpe P, Marasini M, Caruso G, et al. Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies. Prenat Diagn. 2002;22(11):995-1000.
  • 24. Sau A, Sharland G, Simpson J. Agenesis of the ductus venosus associated with direct umbilical venous return into the heart--case series and review of literature. Prenat Diagn. 2004 Jun;24(6):418-23.
  • 25. McBrien A, Caluseriu O, Niederhoffer KY, Hornberger LK. Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era. Prenat Diagn. 2021;41(1):15-20.
  • 26. Achiron R, Gindes L, Gilboa Y, Weissmann-Brenner A, Berkenstadt M. Umbilical vein anomaly in fetuses with Down syndrome. Ultrasound Obstet Gynecol. 2010;35(3):297-301.
  • 27. Lapresa Alcalde MV, Cubo AM, Martín Seisdedos MC, Cortejoso Hernández J, Doyague Sanchez MJ, Sayagués JM. Ductus venosus agenesis as a marker of Pallister-Killian Syndrome. Medicina (Kaunas). 2019;55(7):374.
  • 28. Mash Y, Bardin R, Gilboa Y, et al. Agenesis of the ductus venosus and its association with genetic abnormalities. Prenat Diagn. 2024;44(13):1585-92.
  • 29. Nagy RD, Cernea N, Dijmarescu AL, et al. Ductus venosus agenesis and portal system anomalies-association and outcome. Biology (Basel). 2022;11(4):548.
  • 30. Acherman RJ, Rollins RC, Castillo WJ, Evans WN. Stenosis of alternative umbilical venous pathways in absence of the ductus venosus. J Ultrasound Med. 2010;29(8):1227-31.
  • 31. Thakur V, Jaeggi ET, Nield LE. A unique foetal case of left ventricular non-compaction associated with arrhythmia, structural cardiac anomalies, and agenesis of the ductus venosus. Cardiol Young. 2016;26(2):368-70.
  • 32. Achiron R, Kivilevitch Z. Fetal umbilical-portal-systemic venous shunt: in-utero classification and clinical significance. Ultrasound Obstet Gynecol. 2016;47(6):739-47.
  • 33. Han BH, Park SB, Song MJ, et al. Congenital portosystemic shunts: prenatal manifestations with postnatal confirmation and follow-up. J Ultrasound Med. 2013;32(1):45-52.
Year 2025, Volume: 6 Issue: 1, 8 - 16, 31.01.2025
https://doi.org/10.56766/ntms.1555333

Abstract

References

  • 1. Kiserud T, Acharya G. The fetal circulation. Prenat Diagn. 2004;24(13):1049-59
  • 2. Pacheco D, Brandão O, Montenegro N, Matias A. Ductus venosus agenesis and fetal malformations: what can we expect?-a systematic review of the literature. J Perinat Med. 2018;47(1):1-11.
  • 3. Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, Martinelli P. Absent ductus venosus: case series from two tertiary centres. J Matern Fetal Neonatal Med. 2018;31(18):2478-2483.
  • 4. Born M. The ductus venosus. Rofo. 2021;193(5):521-26.
  • 5. Matias A, Montenegro N. Ductus venosus blood flow in chromosomally abnormal fetuses at 11 to 14 weeks of gestation. Semin Perinatol. 2001;25(1):32-37.
  • 6. Chelemen T, Syngelaki A, Maiz N, Allan L, Nicolaides KH. Contribution of ductus venosus Doppler in first-trimester screening for major cardiac defects. Fetal Diagn Ther. 2011;29(2):127-34.
  • 7. Society for Maternal-Fetal Medicine Publications Committee; Berkley E, Chauhan SP, Abuhamad A. Doppler assessment of the fetus with intrauterine growth restriction. Am J Obstet Gynecol. 2012;206(4):300-308.
  • 8. Garcia-Delgado R, Garcia-Rodriguez R, Romero Requejo A, et al. Echographic features and perinatal outcomes in fetuses with congenital absence of ductus venosus. Acta Obstet Gynecol Scand. 2017;96(10):1205-13.
  • 9. Strizek B, Zamprakou A, Gottschalk I, et al. Prenatal diagnosis of agenesis of ductus venosus: A retrospective study of anatomic variants, associated anomalies and impact on postnatal outcome. Ultraschall Med. 2019;40(3):333-39.
  • 10. Chan ES, Suchet I, Yu W, Somerset D, et al. Absence of ductus venosus: A comparison of 2 distinctive fetal autopsy cases and embryologic perspectives. Pediatr Dev Pathol. 2024;27(2):139-47.
  • 11. Rajachander N, Andrew C, Shalini CNS, Gopal S. Ductus venosus agenesis: Ultrasound diagnosis and outcome. J South Asian Feder Obstet Gynae. 2021;13(3):156-62.
  • 12. Dhingra B, Makam A. Agenesis of ductus venosus: a case series. J Fetal Med. 2020;7(2):149-54.
  • 13. Kiserud T. The ductus venosus. Semin Perinatol. 2001;25(1):11-20.
  • 14. Contratti G, Banzi C, Ghi T, Perolo A, Pilu G, Visentin A. Absence of the ductus venosus: report of 10 new cases and review of the literature. Ultrasound Obstet Gynecol. 2001;18(6):605-609.
  • 15. Tchirikov M, Eisermann K, Rybakowski C, Schröder HJ. Doppler ultrasound evaluation of ductus venosus blood flow during acute hypoxemia in fetal lambs. Ultrasound Obstet Gynecol. 1998;11(6):426-31.
  • 16. Fasouliotis SJ, Achiron R, Kivilevitch Z, Yagel S. The human fetal venous system: normal embryologic, anatomic, and physiologic characteristics and developmental abnormalities. J Ultrasound Med. 2002;21(10):1145-58.
  • 17. Moaddab A, Tonni G, Grisolia G, et al. Predicting outcome in 259 fetuses with agenesis of ductus venosus - A multicenter experience and systematic review of the literature. J Matern Fetal Neonatal Med. 2016;29(22):3606-14.
  • 18. Staboulidou I, Pereira S, Cruz Jde J, Syngelaki A, Nicolaides KH. Prevalence and outcome of absence of ductus venosus at 11(+0) to 13(+6) weeks. Fetal Diagn Ther. 2011;30(1):35-40.
  • 19. Iliescu DG, Cara ML, Tudorache, et al. Agenesis of ductus venosus in sequential first and second trimester screening. Prenat Diagn. 2014;34(11):1099-105.
  • 20. Acherman RJ, Evans WN, Galindo A, et al. Diagnosis of absent ductus venosus in a population referred for fetal echocardiography: association with a persistent portosystemic shunt requiring postnatal device occlusion. J Ultrasound Med. 2007;26(8):1077-82.
  • 21. Berg C, Kamil D, Geipel A, et al. Absence of ductus venosus-importance of umbilical venous drainage site. Ultrasound Obstet Gynecol. 2006;28(3):275-81.
  • 22. Jaeggi ET, Fouron JC, Hornberger LK, et al. Agenesis of the ductus venosus that is associated with extrahepatic umbilical vein drainage: prenatal features and clinical outcome. Am J Obstet Gynecol. 2002;187(4):1031-37.
  • 23. Volpe P, Marasini M, Caruso G, et al. Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies. Prenat Diagn. 2002;22(11):995-1000.
  • 24. Sau A, Sharland G, Simpson J. Agenesis of the ductus venosus associated with direct umbilical venous return into the heart--case series and review of literature. Prenat Diagn. 2004 Jun;24(6):418-23.
  • 25. McBrien A, Caluseriu O, Niederhoffer KY, Hornberger LK. Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era. Prenat Diagn. 2021;41(1):15-20.
  • 26. Achiron R, Gindes L, Gilboa Y, Weissmann-Brenner A, Berkenstadt M. Umbilical vein anomaly in fetuses with Down syndrome. Ultrasound Obstet Gynecol. 2010;35(3):297-301.
  • 27. Lapresa Alcalde MV, Cubo AM, Martín Seisdedos MC, Cortejoso Hernández J, Doyague Sanchez MJ, Sayagués JM. Ductus venosus agenesis as a marker of Pallister-Killian Syndrome. Medicina (Kaunas). 2019;55(7):374.
  • 28. Mash Y, Bardin R, Gilboa Y, et al. Agenesis of the ductus venosus and its association with genetic abnormalities. Prenat Diagn. 2024;44(13):1585-92.
  • 29. Nagy RD, Cernea N, Dijmarescu AL, et al. Ductus venosus agenesis and portal system anomalies-association and outcome. Biology (Basel). 2022;11(4):548.
  • 30. Acherman RJ, Rollins RC, Castillo WJ, Evans WN. Stenosis of alternative umbilical venous pathways in absence of the ductus venosus. J Ultrasound Med. 2010;29(8):1227-31.
  • 31. Thakur V, Jaeggi ET, Nield LE. A unique foetal case of left ventricular non-compaction associated with arrhythmia, structural cardiac anomalies, and agenesis of the ductus venosus. Cardiol Young. 2016;26(2):368-70.
  • 32. Achiron R, Kivilevitch Z. Fetal umbilical-portal-systemic venous shunt: in-utero classification and clinical significance. Ultrasound Obstet Gynecol. 2016;47(6):739-47.
  • 33. Han BH, Park SB, Song MJ, et al. Congenital portosystemic shunts: prenatal manifestations with postnatal confirmation and follow-up. J Ultrasound Med. 2013;32(1):45-52.
There are 33 citations in total.

Details

Primary Language English
Subjects Obstetrics and Gynaecology
Journal Section Research Articles
Authors

Verda Alpay 0000-0002-5937-0220

Selçuk Atalay 0000-0001-7702-5773

Fırat Ersan 0000-0001-5337-0169

İzel Günay 0009-0007-5650-5998

Publication Date January 31, 2025
Submission Date September 24, 2024
Acceptance Date January 10, 2025
Published in Issue Year 2025 Volume: 6 Issue: 1

Cite

EndNote Alpay V, Atalay S, Ersan F, Günay İ (January 1, 2025) Sonographic Features and Perinatal Outcomes in Fetuses with Ductus Venosus Agenesis: Single Center Experience. New Trends in Medicine Sciences 6 1 8–16.