Early prenatal diagnosis of tricuspid valve dysplasia

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

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.

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.

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