Objective To evaluate the diagnostic accuracy and integrity of two-dimension ultrasound (2DUS)assisted with spatio-temporal image correlation (STIC)for cardiac and vascular abnormalities in fetal heterotaxy syndrome (HS).Methods The retrospective study was conducted from Nov 2007 to Feb 2013.Forty-five fetuses with suspected heterotaxy syndrome on routine prenatal ultrasonic screening underwent STIC volume sweep.The diagnosis was confirmed by pathological or echocardiographic examination.STIC volume data sets of fetal hearts were off-line analyzed blindly by one doctor who had practiced fetal echocardiography for more than five years.The concordance and integrity levels of diagnosis with 2DUS or assisted with STIC were compared according with pathological results.Results There were 397 cardiac and vascular defects in 37 cases of right isomerism.The overall concordance of various defects in right isomerism diagnosed assisted with STIC (96.5%)was significantly higher than that of 2DUS (60.2%) (P <0.05).The concordance rates of right atria and ventricle isomerism,anomalies of ventriculo-arterial junction,arterial arch,systematic and pulmonary veins diagnosed assisted with STIC (78.9%,96.7%, 100%,100%,100%)were higher(P <0.05)than those of 2DUS (49.1 %,60%,34.7%,23.2%,62.2%). Percentages of diagnostic integrity levels (0 ~3)on 2DUS+STIC (8% on level 2,92% on level 3 )were significantly different(P <0.05)with those on 2DUS (1 1 % on level 0,21 % on level 1 ,57% on level 2, 1 1 % on level 3).There were 59 cardiac and vascular defects in 8 cases of left isomerism with the overall concordance of defects diagnosed assisted with STIC (89.8%)and 2DUS (81 .4%)being no difference (P >0.05).There was no significant difference in concordance rates of various defects of left isomerism diagnosed between two methods,except that the concordance rate of left atria isomerism diagnosed assisted with STIC was higher(P <0.05).There was no difference in percentages of diagnostic integrity levels (0-3)in left isomerism between two methods.Conclusions STIC technology may provide considerable diagnostic information for ultrasonic diagnosis of fetal heterotaxy syndrome,especially in abnormalities of atria and ventricle isomerism,ventriculo-arterial junction,arterial arches,systematic and pulmonary veins in right isomerism.

Objective To assess the effects of radiofrequency ablation (RFA) and bipolar cord coagulation (BCC) on the prognosis and complication rate of complicated monochorionic twins.Methods A retrospective review was undertaken in 58 cases of complicated monochorionic twins treated with RFA or BCC at the First Affiliated Hospital of Sun Yat Sen University,from January 2008 to August 2013.Non-parametric Wilcoxon test,Chi-square test,Fisher exact test or multi-variant Logistic regression analysis were used for statistical analysis.Results Indications for selective termination in the 58 cases were:twin reversed arterial perfusion sequence in 12,severe twin to twin transfusion syndrome in 28,discordance of fetal anomalies in 10,selective intrauterine growth restriction in 7 and twin anemia-polycythemia sequence in 1.Forty-three cases were managed with BCC and 15 with RFA.Preterm labor was more common in the BCC group than in the RFA group [86.0％(37/43) vs 9/15,respectively; x2=4.598,P=0.032).Premature rupture of the membranes occurred in 48.8％(27/43) of the BCC group vs.4/15 of the RFA group (x2=2.229,P=0.135).The median procedure-todelivery time was 48 (1-150) days for the BCC group vs.101(14-138) days for the RFA group (Z=-2.245,P=0.025).Overall survival rate was 62.8％(27/43) in the BCC group vs 11/15 in the RFA group (x2=0.547,P=0.460),which was not significantly different.Neurodevelopmental delay was detected in two neonates in BCC group and in one neonate in RFA group.Logistic regression analysis showed that delivery before 28 gestational weeks was an independent risk factor for the poor prognosis of the co-twins (OR=192.720,95％CI:18.610-994.000,P ＜ 0.01).Conclusion Compared with BCC,RFA does not improve the prognosis of complicated monochorionic twins significantly.

[Objective]To evaluate the incidence of chromosomal abnormalities and associated abnormalities in prenatally diag?nosed clubfoot,and to determine the prognostic factors as well.[Methods]A total of 89 fetuses with clubfoot diagnosed during Janu?ary 2010 to October 2015 in prenatal ultrasound scan and confirmed postnatally or by autopsy,were selected,within which 16 (18.0%)cases were without other abnormalities and 73(82.0%)cases were with other abnormalities. The associated abnormalities were identified ,the correlation with chromosomal abnormalities were analyzed with Fisher analysis and the factors affecting the outcomes were determined with Logistic regression analysis.[Results]Among associated abnormalities ,the skeletal abnormalities besides the clubfoot were the most frequently associated anomalies (35 ,47.9%),and the central nervous abnormalities followed secondly(30,41.1%). A chromosomal abnormality,with trisomy 18 being the most frequently detected,was identified in 34%(17/49)of the clubfoot fetuses with other anomalies ,whereas none of chromosomal abnormality was identified in 11 fetuses without other anomalies,a significant different rate of aberrant chromosome noted(P < 0.001). The survival rate of clubfoot fetuses without other anomalies was higher than that of clubfoot fetuses with other anomalies(50.0%vs 1.3%,P=0.03). The conditions of with or without associated anomalies were the independent prognostic factors (P = 0.01),the clubfoot fetuses associated with other anomalies had poor outcomes[OR=11.9(95%CI:1.8,80.1)].[Conclusion]Skeletal abnormalities besides the clubfoot were the most frequently associated anomalies. The condition of with or without associated anomalies is the independent prognostic index for fetuses with clubfoot. Aneuploidy were more commonly in clubfoot fetuses with associated abnormalities than in those without other abnormalities. No indication for karyotyping suggests for the clubfoot fetuses without other abnormalities due to the low incidence of associate chromo?somal anomalies.

Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined.

Objective To investigate the clinic value of ultrasonographic fetal nasal bone examination as a screening marker for Down syndrome(DS).Methods The study was conducted in the First Affiliated Hospital of Sun Yat-sen University from Oct 2004 to Mar 2007.Two-dimensional ultrasound was used to assess the fetal nasal bone of 1863 normal pregnancies(normal group)and 25 cases with DS fetus (study group)during their second and third trimesters.The incidence of nasal bone absence or short nasal bone in two groups was determined.The fetal nasal bone absence should be confirmed in three orthogonal planes of the fetal face.and the short nasal bone included the cases that the fetal nasal bone was shorter than the 2.5th percentile of normal according to the gestational week.The diagnostic test index was used for assessing the value of fetal nasal bone abnormality as a marker in prenatal screening for DS.Results (1)1761 fetuses of normal group were successfully examined for the nasal bone and the detection rate was 94.5%(1761/1863).102 fetuses failed examination because of inconvenient intra-uterine position.(2)The nasal bone length grew in a linear fashion throughout pregnancy and the growth pattern correlated well with gestational age(r=0.605,P＜0.05)in normal group.The nasal bone was absent in 3 normal fetuses (0.2%,3/1761)and short nasal bone was found in 44 normal fetuses(2.5%,44/1761).(3)The nasal bone was absent in 7 DS fetuses(28.0%.7/25)and short nasal bone was found in 15 DS fetuses (60.0%.15/25).(4)When the absence of nasal bone was used as a cut-off,the sensitivity for DS was 28.0%.the specificity was 99.8%,the positive likelihood ratio was 164.45(95%CI:45.11-599.60),and the negative likelihood ratio was 0.72(95%CI:0.57-O.92).When short nasal bone was used as a cut-off.the sensitivity was 60.O%,specificity was 97.5%.the positive likelihood ratio was 24.03(95%CI:7.15-80.71),and the negative likelihood ratio was 0.41(95%CI:0.29-0.59).Conclusion Fetal nasal bone hypoplasia at the second and third trimester scan is associated with a high risk for Down syndrome and it can be used as a screen marker for this chromosomal abnormality.

Objective To investigate the clinical value of ultrasound markers in screening fetal trisomy 21.Methods From Jan.2001 to Dec.2011,a retrospective study about sonographic information of 138 fetuses diagnosed as trisomy 21 was taken in the First Affiliated Hospital of Sun Yat-sen University.All fetuses were divided into 3 groups:isolated ultrasound markers,non-isolated ultrasound markers,and isolated structural malformations or other abnormalities.The relationship between trisomy 21 and ultrasound markers as well as structural anomalies or other abnormalities was analyzed.Results Sonographic anomalies were detected in 132 fetuses(95.7％,132/138),including ultrasound markers and structural malformations or other abnormalities.One hundred and twenty cases(87.0％,120/138)had ultrasound markers,38(31.7％,38/120)had one marker and 82(68.3％,82/120)had more than one marker (P ＜ 0.01).Fifty-one fetuses(37.0％,51/138)had isolated ultrasound markers and non-isolated markers were found in 69 fetuses(50.0％,69/138).Only 12 fetuses(8.7％,12/138)had isolated structural malformations or other abnormalities.In 20 fetuses on whom the first-trimester ultrasound screening were performed,all had ultrasound markers,95％(19/20)had thickened nuchal translucency and 55％ (11/20)had nasal bone hypoplasia.The most common ultrasound markers on the second-trimester screening were nasal bone hypoplasia,which accounted for 41.9％(52/124)cases,followed by thickened nuchal fold (25.0％,31/124),short fenurs and humerus(24.2％,30/124),echogenic intracardiac focus(16.1％,20/124),mild ventriculomegaly(15.3％,19/124),hyperechoic bowel(12.9％,16/124),mild renal pyelectasis(12.1％,15/124).Furthermore,thc common structural malformations or other abnormalities were as follows:cardiac defects(33.1％,41/124),digestive system(26.6％,33/124).Condusions Ultrasound markers are valuable for screening fetal trisomy 21.The fetuses of trisomy 21 usually had more than one ultrasound markers or associated with other abnormalities.Combinations of ultrasound markers with the results of serum screening and maternal age are necessary for evaluation.

Objective To explore the clinical value of two‐dimensional transesophageal echocardiography (2D‐TEE) and real‐time three‐dimensional transesophageal echocardiography (RT3D‐TEE) for the left atrial appendage (LAA) closure procedures by the visualization of LAA shape by 2D‐TEE and RT3D‐TEE and the comparison between the measurement of LAA ostium and the sized LAmbreTM device during the procedure .Methods Forty‐one atrial fibrillation patients ,who had undergone 2D‐TEE examination at our hospital ,were enrolled in the study .At the mid‐esophageal ,dimensions of inner and outer ostium and depth of LAA were measured at the 2D‐TEE views of 0 ,45 ,90 and 135 degree respectively . RT3D‐TEE views were acquired and the maximal and the minimal dimensions of LAA inner ostium were measured .The measurement by RT3D‐TEE and 2D‐TEE were compared to find the difference and correlation .Eleven of 41 patients who have complied with the requirements for the LAA closure ,were undergone the procedures ,measured the dimension of LAA inner ostium at selective angiography intraoperative .Sizes of closure disks of the closure device and the measurement at selective angiography were recorded to compare the measurement at RT3D‐TEE and 2D‐TEE .Results Forty‐one atrial fibrillation patients were completed TEE examination successfully .Inner ostial dimension of LAA was (20.0±04.3)cm,(19.7±03.8)cm,(21.2±04.6)cm,(23.0±05.0)cmat2D‐TEEviewsof0,45,90and135 degree ,respectively .The maximum dimensions of LAA inner ostium by RT3D‐TEE was (2 4.9 ± 0 5.2)cm . At 2D‐TEE views ,the maximum dimensions of LAA inner ostium was at 135 degree ,there was a difference between it and the measurement by RT3D‐TEE ( P =0 0.12) .Monitoring by TEE ,LAA closure procedures with LAmbreTM device were successful for all 11 patients ,the landing zone by selective angiography was (2 4.9 ± 0 4.4)cm ,and the appropriate sized closure disk of the LAmbreTM device was 2 4. - 3 6. cm . Correlation between the measurements by RT3D‐TEE and selective angiography and the sized closure disk were r =0 8.16 ,P =0 0.02 and r =0 9.14 ,P =0 0.00 ,respectively .Correlation between the measurements by 2D‐TEE and selective angiography and the sized closure disk were r =0 6.93 ,P =0 0.18 and r =0 6.88 , P=0 0.19 ,respectively .Conclusions There was better correlation among the measurements by RT3D‐TEE and selective angiography and the size of closure device .Therefore ,compared to 2D‐TEE ,the guidance of RT3D‐TEE was more accurate during LAA closure procedures for LAmbreTM device selection .

Objective To establish z-score model for fetal aorta (Ao) and pulmonary artery (PA) dimensions base on fetal femur length (FL),then to evaluate them in prenatal diagnosis of tetralogy of Fallot (TOF).Methods Three hundred twenty-nine normal fetuses and 43 fetuses with TOF were involved,Ao and PA dimensions were measured for all cases offline after cardio-spatiotemporal image correlation (STIC) volume acquisition,and PA to Ao ratio (PA/Ao) was calculated.Normal Ao and PA dimensions z-score models were constructed by using first standard regression analysis using FL as independent variable.Subsequently,the three parameters between normal and TOF fetuses were compared.Results The models use to calculate z-score for Ao and PA dimensions were constructed,FL had close correlation with fetal Ao and PA dimensions.Compared with normal fetuses,the mean z-scores of Ao,PA and PA/Ao ratio were statistical different in TOF fetuses.All Ao z-scores were ＞ + 2 z-scores and all the PA/Ao ratio were ＜ the 95％ CI in TOF group,however,only 48.84％ (21/43) PA z-scores of TOF cases were ＜-2 z-scores.Conclusions The Ao and PA dimensions z-score can provide quantitative evidence in prenatal diagnosis of TOF.Aortic dilatation and abnormal PA/Ao ratio are the main performances in fetal TOF and would be markers for prenatal diagnosis of TOF.

Objective To investigate antenatal sonographic findings of the fetal isolated callosal hypoplasia and partial agenesis. Methods A retrospective study was performed on the cases of hypoplasia and partial agenesis of the corpus callosum suspected at antenatal sonographic basic examination from 2006 to 2014, all the cases were confirmed by pathology or magnetic resonance imaging(MRI). For the surviving infants, clinical follow-up had been performed to assess the developmental outcome. Results Thirteen fetuses suspected with callosal underdevelopment were identified at a median gestational age of 31 (range, 18~39) weeks. Ten cases were confirmed by autopsy and MRI, including 9 with partial agenesis and 1 with hypoplasia. Among the 10 fetuses confirmed with isolated partial agenesis or with hypoplasia, incidence of the absent cavum septum pellucidum was 20%, the ‘Tear-drop’ lateral ventricles was 40%, the upward displacement of the third ventricle was 80%. Pregnancy was terminated electively in 8 of the cases with partial agenesis or with hypoplasia. Among the 2 surviving infants, apparent normal development was observed in only one case, but we lost the follow-up of this case at two-year-old. Six fetuses received the chromosome identification, almost all of them were normal. Conclusion The basic ultrasonic examination is feasible for the antenatal diagnosis of isolated callosal underdevelopment the. The indirect classical signs of callosal partial agenesis and hypoplasia are different with those of complete agenesis of the corpus callosum. The incidences of the‘Tear-drop’ lateral ventricles and the upward displacement of the third ventricle are higher than the absence of CSP. The chromosome of isolated callosal partial agenesis or hypoplasia is normal, however, the prognosis is uncertain.

ObjectiveTo investigate the ultrasonographic indicators predicting the outcomes of selective fetal growth restriction (sFGR)fetusesin monochorionic twinsunder expectant management. MethodsMonochorionic twins with sFGR diagnosed in the First Affiliated Hospital of SUN Yat-sen University from Jan.2005 to May 2010 were included into this study.All patients underwent expectant treatment.Ultrasound appearances of monochorionic twins were documented in detail when sFGR was diagnosed.At the initial evaluation,presence or absence of the following abnormalities were documented, including abnormal Doppler flowin theumbilical artery,polyhydramnios in the larger twin,oligohydramnios,fetal weight discordance and velamentous cord insertion in sFGR fetuses; gestational age at diagnosis was recorded as well.The relationship between these ultrasound characteristics and mortality of sFGR fetus was analyzed with Logistic regression.ResultsOf 51 sFGR fetuses,11 (21.6％) suffered from fetal death,including four intrauterine demise and seven neonatal deaths both twins were dead in 3 cases. Logistic regression analysis demonstrated that oligohydramnios (OR=22.80,95％CI:3.58-145.31,P=0.001) and abnormality of diastolic flow in the umbilical artery (OR=6.51,95％CI:1.16-36.53,P=0.033) were independent risk factors of mortality of sFGR fetuses. Conclusions Both oligohydramnios and abnormal Doppler flow in the umbilical artery suggest poor prognosis of sFGR fetuses in monochorionic twins.