A preliminary study of Fetal Intelligent Navigation Echocardiography in the prenatal diagnosis of conotruncal defects / 中华超声影像学杂志

Objective To investigate the application of fetal intelligent navigation echocardiography ( FINE ,5D Heart) in the diagnosis of conotruncal anomalies ( CTD ) . Methods For prospective study , volume transducer was used to collect the three-dimensional data of fetal heart at 20th - 30th week of gestation . The STIC volume images were processed by three independent physicians of different hierarchies via 5D Heart software afterwards ,and the quality of the STIC diagnosis as well as the consistence among the physicians were analyzed according to the gold standard of postpartum ultrasonic follow-up or surgery results . Results Twelve out of 16 CTD cases were finally included in the study ,and the volume data were analyzed . Senior physicians A could apply 5D Heart diagnosis to achieve 2D-US diagnosis efficiency and gold standard consistently( P = 0 .157 ,0 .083) ,medium and low seniority physician B and C got roughly equal score using 5D Heart diagnosis( P = 0 .705) ,but the diagnostic performance could not reach 2D-US ( P =0 .000 ,0 .000) and gold standard( P = 0 .000 ,0 .000) . Conclusions Fetal cardiac anomalies of CTD can be diagnosed correctly by an expert using 5D Heart ,which has important application prospects in remote consultation , training and scientific research and teaching of congenital heart disease of fetus .

Relationship of conotruncal anomalies and chromosome 22q11.2 deletion / 国际儿科学杂志

Congenital cardiovascular anomalies are present in approximately 80％ of children with 22q11.2 deletion syndrome.Three genes in chromosome 22q11.2 ( TBX1,CRKL,and ERK2 ) have been identified whose haploinsufficiency causes anomalies of 22q11.2 deletion.The most common diseases are conotruncal anomalies,which include tetralogy of Fallot ( TOF),pulmonary atresia with ventricular septum defect (PA-VSD),truncus arteriosus,and interrupted aortic arch.In major phenotypes,a high prevalence of the deletion is noted in patients with TOF with pulmonary atresia,TOF associated with pulmonary atresia and major aortopumonary collateral arteries,persistent truncus arteriosus,and type B interruption of aortic arch.In minor phenotypes,right aortic arch,aberrant subclavian artery,and major aortopulmonary collateral arteries are frequently associated with cardiovascular anomalies associated with 22q11.2 deletion.In conclusion,conotruncal anomaly associated with aortic arch and branch anomalies should increase the suspicion of 22q11.2 deletion.