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Ductus venosus agenesis

MedGen UID:
811050
•Concept ID:
C2363934
•
Congenital Abnormality
Synonym: Agenesis of ductus venosus
 
HPO: HP:0034196

Definition

A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation). [from HPO]

Conditions with this feature

Ciliary dyskinesia, primary, 53
MedGen UID:
1851509
•Concept ID:
C5882728
•
Disease or Syndrome
Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
See: Condition Record
Ciliary dyskinesia, primary, 53

Professional guidelines

PubMed

Prenatal diagnosis of abnormality of the umbilical portal DV complex: difficulty in universal classification due to various alternative routes in hepatic circulation for placental drainage.
Demirci O, Akay HÖ
J Matern Fetal Neonatal Med 2022 Oct;35(20):3872-3884. Epub 2020 Nov 2 doi: 10.1080/14767058.2020.1842870. PMID: 33138669
Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies.
Volpe P, Marasini M, Caruso G, Lituania M, Marzullo A, Volpe G, Gentile M
Prenat Diagn 2002 Nov;22(11):995-1000. doi: 10.1002/pd.456. PMID: 12424763

Recent clinical studies

Etiology

Prenatal diagnosis of abnormality of the umbilical portal DV complex: difficulty in universal classification due to various alternative routes in hepatic circulation for placental drainage.
Demirci O, Akay HÖ
J Matern Fetal Neonatal Med 2022 Oct;35(20):3872-3884. Epub 2020 Nov 2 doi: 10.1080/14767058.2020.1842870. PMID: 33138669
Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature.
Erenel H, Karsli MF, Ozel A, Korkmaz SO, Sen C
J Matern Fetal Neonatal Med 2020 Mar;33(6):1015-1023. Epub 2019 Jan 28 doi: 10.1080/14767058.2019.1569611. PMID: 30691333
Absent ductus venosus: case series from two tertiary centres.
Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, Martinelli P
J Matern Fetal Neonatal Med 2018 Sep;31(18):2478-2483. Epub 2017 Jul 12 doi: 10.1080/14767058.2017.1344637. PMID: 28629280
Absent ductus venosus associated with persistent truncus arteriosus: prenatal diagnosis.
Tutar E, Fitoz S
Cardiol Young 2010 Jun;20(3):345-8. Epub 2010 Apr 26 doi: 10.1017/S1047951110000338. PMID: 20420741

Diagnosis

Agenesis of the ductus venosus and fetal growth restriction: Is there a relation? A tertiary care center experience and systematic review of the literature.
Piemonti L, Simonetto C, Bovino A, Pinto A, Garzon S, Grisolia G, Raffaelli R
J Clin Ultrasound 2024 Sep;52(7):949-955. Epub 2024 May 20 doi: 10.1002/jcu.23718. PMID: 38767265
Anomalous hepatic drainage and platypnea-orthodeoxia in cyanotic children.
Bichali S, Soquet J, Bouzguenda I, Lérisson H, Ung A, Pontana F, Godart F, Le Duc K, Nuytten A, Houeijeh A
Cardiol Young 2023 Dec;33(12):2685-2689. Epub 2023 Oct 25 doi: 10.1017/S1047951123003712. PMID: 37877253
Ductus venosus agenesis and fetal malformations: what can we expect? - a systematic review of the literature.
Pacheco D, Brandão O, Montenegro N, Matias A
J Perinat Med 2018 Dec 19;47(1):1-11. doi: 10.1515/jpm-2018-0163. PMID: 29949516
Absent ductus venosus: case series from two tertiary centres.
Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, Martinelli P
J Matern Fetal Neonatal Med 2018 Sep;31(18):2478-2483. Epub 2017 Jul 12 doi: 10.1080/14767058.2017.1344637. PMID: 28629280
Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies.
Volpe P, Marasini M, Caruso G, Lituania M, Marzullo A, Volpe G, Gentile M
Prenat Diagn 2002 Nov;22(11):995-1000. doi: 10.1002/pd.456. PMID: 12424763

Prognosis

Agenesis of the ductus venosus and fetal growth restriction: Is there a relation? A tertiary care center experience and systematic review of the literature.
Piemonti L, Simonetto C, Bovino A, Pinto A, Garzon S, Grisolia G, Raffaelli R
J Clin Ultrasound 2024 Sep;52(7):949-955. Epub 2024 May 20 doi: 10.1002/jcu.23718. PMID: 38767265
Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature.
Erenel H, Karsli MF, Ozel A, Korkmaz SO, Sen C
J Matern Fetal Neonatal Med 2020 Mar;33(6):1015-1023. Epub 2019 Jan 28 doi: 10.1080/14767058.2019.1569611. PMID: 30691333
Ductus venosus agenesis and fetal malformations: what can we expect? - a systematic review of the literature.
Pacheco D, Brandão O, Montenegro N, Matias A
J Perinat Med 2018 Dec 19;47(1):1-11. doi: 10.1515/jpm-2018-0163. PMID: 29949516
Absent ductus venosus: case series from two tertiary centres.
Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, Martinelli P
J Matern Fetal Neonatal Med 2018 Sep;31(18):2478-2483. Epub 2017 Jul 12 doi: 10.1080/14767058.2017.1344637. PMID: 28629280
Agenesis of the ductus venosus that is associated with extrahepatic umbilical vein drainage: prenatal features and clinical outcome.
Jaeggi ET, Fouron JC, Hornberger LK, Proulx F, Oberhänsli I, Yoo SJ, Fermont L
Am J Obstet Gynecol 2002 Oct;187(4):1031-7. doi: 10.1067/mob.2002.126292. PMID: 12389001

Clinical prediction guides

Agenesis of the ductus venosus and fetal growth restriction: Is there a relation? A tertiary care center experience and systematic review of the literature.
Piemonti L, Simonetto C, Bovino A, Pinto A, Garzon S, Grisolia G, Raffaelli R
J Clin Ultrasound 2024 Sep;52(7):949-955. Epub 2024 May 20 doi: 10.1002/jcu.23718. PMID: 38767265
Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature.
Erenel H, Karsli MF, Ozel A, Korkmaz SO, Sen C
J Matern Fetal Neonatal Med 2020 Mar;33(6):1015-1023. Epub 2019 Jan 28 doi: 10.1080/14767058.2019.1569611. PMID: 30691333
Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies.
Volpe P, Marasini M, Caruso G, Lituania M, Marzullo A, Volpe G, Gentile M
Prenat Diagn 2002 Nov;22(11):995-1000. doi: 10.1002/pd.456. PMID: 12424763
Agenesis of the ductus venosus that is associated with extrahepatic umbilical vein drainage: prenatal features and clinical outcome.
Jaeggi ET, Fouron JC, Hornberger LK, Proulx F, Oberhänsli I, Yoo SJ, Fermont L
Am J Obstet Gynecol 2002 Oct;187(4):1031-7. doi: 10.1067/mob.2002.126292. PMID: 12389001
Prenatal diagnosis of ductus venosus agenesis: a report of two cases and review of the literature.
Gembruch U, Baschat AA, Caliebe A, Gortner L
Ultrasound Obstet Gynecol 1998 Mar;11(3):185-9. doi: 10.1046/j.1469-0705.1998.11030185.x. PMID: 9589141

Recent systematic reviews

Agenesis of the ductus venosus and fetal growth restriction: Is there a relation? A tertiary care center experience and systematic review of the literature.
Piemonti L, Simonetto C, Bovino A, Pinto A, Garzon S, Grisolia G, Raffaelli R
J Clin Ultrasound 2024 Sep;52(7):949-955. Epub 2024 May 20 doi: 10.1002/jcu.23718. PMID: 38767265
Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature.
Erenel H, Karsli MF, Ozel A, Korkmaz SO, Sen C
J Matern Fetal Neonatal Med 2020 Mar;33(6):1015-1023. Epub 2019 Jan 28 doi: 10.1080/14767058.2019.1569611. PMID: 30691333
Ductus venosus agenesis and fetal malformations: what can we expect? - a systematic review of the literature.
Pacheco D, Brandão O, Montenegro N, Matias A
J Perinat Med 2018 Dec 19;47(1):1-11. doi: 10.1515/jpm-2018-0163. PMID: 29949516

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