Li Chunying, Song Xiaoyu, Ge Tingting, Zhang Chuan, Wang Xiaozhuan, Qi Jun, Du Xiaoning, Hao Yu, Jia Pujuan, Wang Yafei, Lin Xiaojuan
Prenatal Diagnosis Center, Gansu Provincial Maternity and Child Care Hospital, Lanzhou, China.
Medical Genetics Center, Gansu Provincial Maternity and Child Care Hospital, Lanzhou, China.
Quant Imaging Med Surg. 2025 Aug 1;15(8):7296-7308. doi: 10.21037/qims-2025-486. Epub 2025 Jul 29.
Fetuses with umbilical-portal-systemic venous shunt (UPSVS) have poor prognosis, and standard prenatal ultrasound planes do not contain the umbilical-portal-systemic venous system. Moreover, UPSVS-related research is limited, and the rate of chromosomal abnormalities remains unknown. It is necessary to further clarify the ultrasound characteristics and prognosis of these fetuses and develop effective diagnostic models. Accordingly, the objective of this study was to examine the ultrasound image characteristics of fetuses with different types of UPSVS using two-dimensional ultrasound combined with spatiotemporal correlation imaging technology (STIC) and analyzed the chromosomal abnormality rate and pregnancy outcomes.
A retrospective analysis was performed on fetuses with UPSVS as diagnosed via prenatal ultrasound at Gansu Provincial Maternity and Child Care Hospital from January 2020 to September 2024. Chromosome or gene testing results of UPSVS fetuses, ultrasound characteristics, and the prognosis of fetuses with different types of UPSVS were evaluated. Moreover, a search for literature published from 2000 to 2024 on fetal UPSVS and chromosomal abnormalities was conducted.
A total of 53 fetuses were included in the study. The mean gestational age diagnosed by prenatal ultrasound was 22.2±5.2 weeks. Of the fetuses, 35 fetuses underwent amniocentesis, among whom 25.7% (9/35) had chromosomal or genetic abnormalities (6 type I, 1 type II, and 2 type IIIA). There were 20 cases of terminated pregnancy (9 cases had chromosomal or genetic abnormalities, and 11 cases had severe structural abnormalities), and 33 live births, resulting in 11 cases (34.4%, 11/32; one case was lost to follow-up, and the outcome after birth remained unknown) with poor prognoses. In addition, studies related to fetal UPSVS and their chromosomal or genetic abnormalities published from 2000 to 2024 were analyzed to determine the implications (or indications) of prenatal invasive diagnostic techniques, we found that although most UPAVS fetuses have a good prognosis, the abnormality rate of amniocentesis is about 23.2% (types I and II are more common) when accompanied by other structural abnormalities.
The combination of two-dimensional ultrasound and STIC provides reliable evidence for the diagnosis of UPSVS. Types of UPSVS and chromosomal (or genetic) abnormalities affect the prognosis of UPSVS fetuses.
患有脐门静脉-体静脉分流（UPSVS）的胎儿预后较差，而标准产前超声切面不包含脐门静脉-体静脉系统。此外，与UPSVS相关的研究有限，染色体异常的发生率仍然未知。有必要进一步阐明这些胎儿的超声特征和预后，并开发有效的诊断模型。因此，本研究的目的是使用二维超声结合时空关联成像技术（STIC）检查不同类型UPSVS胎儿的超声图像特征，并分析染色体异常率和妊娠结局。
对2020年1月至2024年9月在甘肃省妇幼保健院通过产前超声诊断为UPSVS的胎儿进行回顾性分析。评估UPSVS胎儿的染色体或基因检测结果、超声特征以及不同类型UPSVS胎儿的预后。此外，检索了2000年至2024年发表的关于胎儿UPSVS和染色体异常的文献。
本研究共纳入53例胎儿。产前超声诊断时的平均孕周为22.2±5.2周。其中35例胎儿接受了羊水穿刺，其中25.7%（9/35）有染色体或基因异常（I型6例，II型1例，IIIA型2例）。有20例终止妊娠（9例有染色体或基因异常，11例有严重结构异常），33例活产，导致11例（34.4%，11/32；1例失访，出生后结局未知）预后不良。此外，分析了2000年至2024年发表的与胎儿UPSVS及其染色体或基因异常相关的研究，以确定产前侵入性诊断技术的意义（或指征），我们发现虽然大多数UPAVS胎儿预后良好，但伴有其他结构异常时，羊水穿刺的异常率约为23.2%（I型和II型更常见）。
二维超声与STIC相结合为UPSVS的诊断提供了可靠依据。UPSVS的类型和染色体（或基因）异常影响UPSVS胎儿的预后。
