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Title: Prenatal Ultrasound Analysis of Umbilical‐Portal‐Systemic Venous Shunts Concurrent With Trisomy 21

Journal Article · · Journal of Ultrasound in Medicine
DOI:https://doi.org/10.1002/jum.15507· OSTI ID:1786592
 [1];  [1];  [1];  [1];  [1];  [2]; ORCiD logo [1]
  1. Department of Ultrasound, Qilu Hospital, Cheeloo College of Medicine Shandong University Jinan China
  2. Zibo Lianchi Women and Infants Hospital Zibo China
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Objectives A classification termed umbilical‐portal‐systemic venous shunt (UPSVS) for an abnormal umbilical vein (UV), portal vein (PV), and ductus venosus (DV) was proposed recently. According to this classification, there are 3 types of UPSVSs: types I, II, and III. Trisomy 21 associated with UV‐PV‐DV anomalies has been described, but the incidence of trisomy 21 in UPSVS cases, the relationship between UPSVS types and trisomy 21, and the pregnancy outcome are poorly documented. This study aimed to address these issues. Methods All UPSVS cases diagnosed at our department from 2016 to 2019 were retrospectively studied. The English literature describing UV‐PV‐DV anomalies and trisomy 21 from 2000 to 2019 was searched, and the retrieved cases were analyzed. Results Four of 20 UPSVS cases identified by us also had trisomy 21, with 2 type I and 2 type II UPSVSs. Ultrasound markers of Down syndrome were observed in all 4 cases that underwent termination of pregnancy (TOP). The literature search retrieved 12 reports including 279 patients, with 29 also having trisomy 21, giving a pooled trisomy 21 incidence rate of 10.4%. Of the 29 cases, 16 had type I, and 9 had type II, whereas UPSVS types in 4 were undeterminable, and 22 cases underwent TOP. Conclusions There is a high incidence of trisomy 21 in UPSVS cases. Trisomy 21 is associated with a type I or II UPSVS. Most cases with the combined defect underwent TOP. These findings may be used to direct prenatal counseling and management of the combined condition.

Sponsoring Organization:
USDOE
OSTI ID:
1786592
Journal Information:
Journal of Ultrasound in Medicine, Journal Name: Journal of Ultrasound in Medicine Vol. 40 Journal Issue: 7; ISSN 0278-4297
Publisher:
Wiley Blackwell (John Wiley & Sons)Copyright Statement
Country of Publication:
United States
Language:
English

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