Diagnosis and prognosis of fetal inferior vena cava malformation by fetal echocardiography

Abstract

Objective To summarize the characteristics of two-dimensional(2D) ultrasound, spatiotemporal imaging correlation(STIC) and vascular casting of fetal inferior vena cava(IVC) malformations, analyze the clinical characteristics and the prognosis of fetal IVC malformations, and explore the early diagnostic value of fetal echocardiography for fetal IVC malformations. Methods Sixty-one cases of fetal IVC malformation diagnosed by fetal echocardiography in Beijing Anzhen Hospital Maternal Fetal Medical Consultation Center were retrospectively analyzed. The clinical data, echocardiographic features, genetic testing information and prognosis were summarized. Results ①In the 61 cases of IVC malformation, there were 51 cases of absence of IVC, 46 cases of absence of liver segment, 5 cases of absence of left IVC hepatic segment, 9 cases of left IVC (including 5 cases of left IVC and absence of IVC hepatic segment), 5 cases of double IVC, and 1 case of right hepatic vein reflux. ②Ten fetuses of the 61 fetuses were simple IVC deformity without any other malformations. Other venous malformations included 7 cases of absence of right superior vena cava and persistent left superior venacava, 2 cases of absence of venous catheters, and 3 cases of persistent right umbilical vein, 2 cases were merged alone; 49 cases were merged with intracardiac structural malformations and arrhythmia. ③Thirty-eight pregnant women underwent Down′s screening or non-invasive DNA, all of which were at low risk.Four cases underwent amniocentesis, and no obviously abnormality was found. Sixteen cases underwent autopsy and genome sequencing after induced labor, one was single gene abnormalities (ZFPM2 classical mutation). ④STIC images were collected in 20 cases, and 19 cases were clearly visualized. ⑤Vascular cast was made to show the shape of blood vessel more clearly and stereoscopically in 4 cases of absent hepatic segment of IVC. ⑥Eleven fetuses were born and confirmed from the results of postnatal ultrasound, who were healthy in follow-up; 16 fetuses were induced labor; 33 fetuses were losed during follow-up; 1 fetus died after birth (arrhythmia). Conclusions Fetal echocardiography combined with STIC technology can clearly diagnose the anomalies of IVC. Vascular casting can provide stereoscopic and visual manifestations of the anomalies of IVC. The prognosis of simple anomalies of IVC is good. Key words: Echocardiography, Fetal; Inferior vena cava malformation; Spatiotemporal imaging correlation; Vascular cast