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Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.
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Objective To explore the echocardiographic features and pregnant outcomes in fetuses with complete closure of the ductus arteriosus ( DA) . Methods The echocardiographic data and follow-up materials were retrospectively reviewed in 28605 fetuses . Of all the fetuses ,6 fetuses had complete closure of the DA . The echocardiographic features and pregnant outcomes of the 6 fetuses with complete closure of the DA were summarized . Results Of all the 6 fetuses ,4 cases were found in the third trimester and 2 cases in the second trimester . There was no the lumen of the DA in the three vessel view on the two dimensional echocardiography ,demonstrating the line-like low echogenicity in the DA area . No DA flow signal was found on the color and spectral Doppler imaging . Four cases had dilated right heart .Six cases had thickened wall of the right ventricle ( WRV ) ,and hypokinetic motion of the WRV . Moderate to severe tricuspid regurgitation were found in 5 cases and disappeared or reversal a-wave of the ductus venosus were found in 5 cases . The mild pericardial effusion was found in 2 cases . Of all the 6 cases ,4 cases were delivered by cesarean section and the echocardiographic findings were unremarkable at the follow -up of six months . Conclusions Intrauterine complete closure of the DA can be accurately diagnosed by fetal echocardiograph in the 2-3 trimesters . If indicated ,elective delivery results in good outcome .
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Objective To explore the correlation between the joint detection of cholinesterase(CHE),alpha-L-fucosidase(AFU) and alpha-fetoprotein(AFP)and primary hepatic cancer(PHC).Methods 56 cases of patients with PHC(PHC group),52 cases of patients with liver cirrhosis(LC group)and 60 cases of healthy individuals(control group)were enrolled in this study,and serum levels of CHE,AFU and AFP were detected and statistically analysed.Results Serum levels of CHE in patients with PHC were negatively correlated with levels of AFU and AFP(correlation coefficient was -0.889 and -0.797 respectively,P <0.05),the ser-um levels of CHE in patients with LC were also negatively correlated with levels of AFU and AFP (correlation coefficient was-0.598 and -0.653 respectively,P <0.05).The positive rates of joint detection of CHE,AFU and AFP in PHC group and LC group were higher than that in the control group,had statistically significant differences(P <0.05 ).Conclusion CHE,AFU and AFP are sensitive indicators of liver lesions,and the joint detection could provide reference value for diagnosis and monitoring pro-gression of PHC.