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三尖瓣发育不良的早期产前诊断。

Early prenatal diagnosis of tricuspid valve dysplasia.

机构信息

Department of Obstetrics and Gynecology, Rambam Health Care Campus, Haifa, Israel.

Neonatal Intensive Care Unit, Carmel Medical Center, Haifa, Israel.

出版信息

J Matern Fetal Neonatal Med. 2022 Jan;35(2):410-413. doi: 10.1080/14767058.2020.1718643. Epub 2020 Jan 28.

DOI:10.1080/14767058.2020.1718643
PMID:31990249
Abstract

OBJECTIVE

To report our experience in early prenatal diagnosis of six cases of tricuspid valve dysplasia (TVD) and to delineate echocardiographic features.

METHODS

This was a retrospective study which included all the women who attended our clinic for early fetal screening sonography, between 2001 and 2018. The ultrasound screening was done at 11-16 weeks of gestation, and included an anatomic fetal scan and Doppler imaging. The diagnosis of TVD was done based on sonographic features visualized on four chamber view and color mapping of the valve. Complete fetal echocardiography was carried out to rule out additional heart malformations.

RESULTS

Out of 34,933 early prenatal transvaginal ultrasound screening examinations, six cases of TVD were diagnosed. Five of the pregnancies were terminated as per parental request, and one fetus was delivered at term and died shortly after birth. In three fetuses a chromosomal analysis was performed, one had trisomy 21, one had an abnormal CGH, and the third had a normal karyotype. In two fetuses an autopsy was performed and the diagnosis of TVD was confirmed in both.

CONCLUSION

Early prenatal detection of TVD is possible and may aid in parental counseling. Larger studies, examining the outcome of TVD should be considered.

摘要

目的

报告我们在六例三尖瓣发育不良(TVD)的早期产前诊断中的经验,并阐述其超声心动图特征。

方法

这是一项回顾性研究,纳入了 2001 年至 2018 年间在我们诊所进行早期胎儿筛查超声检查的所有女性。超声筛查在妊娠 11-16 周进行,包括解剖胎儿扫描和多普勒成像。根据四腔心切面和瓣膜彩色映射上显示的超声特征诊断 TVD。进行完整的胎儿超声心动图检查以排除其他心脏畸形。

结果

在 34933 例早期经阴道超声筛查检查中,诊断出六例 TVD。其中五例妊娠根据家长要求终止,一例胎儿足月分娩后不久死亡。对三例胎儿进行了染色体分析,一例存在 21 三体,一例存在异常 CGH,第三例核型正常。对两例胎儿进行了尸检,均证实为 TVD。

结论

早期产前检测 TVD 是可能的,并有助于家长咨询。应考虑进行更大规模的研究,以评估 TVD 的结局。

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