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 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 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 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 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 compare the prenatal ultrasonic characteristics between left and right isomerism as referring to autopsy outcomes.Methods Between November 2007 and July 2010,fetuses with isomerism that were confirmed by autopsy,were identified from 1200 prenatal ultrasonic scans.Their abnormal spectrums and ultrasonic features were analyzed and comparied between left and right isomerism.Results A total of 18 fetuses with right isomerism and 4 fetuses with left isomerism were detected and confirmed.The major findings of the right isomerism were;viscerocardiac heterotaxy (17,94%),anomalous pulmonary venous connection (16,89%),complete atrioventricular septal defect (15,83%),juxtaposition of the descending aorta and inferior vena cava(12,67%),left persistent superior vena cava (11,61%),right aortic arch (10,56%) and univentricle (10,56%).As for the left isomerism,all had viscerocardiac heterotaxy and interruption of inferior vena cave,three of them had heart block,complete atrioventricular septal defect and hypoplasia of aorta,two of them had univentricle.Conclusions Viscerocardiac heterotaxy,complete atrioventricular septal defect,univentricle are the most common anomalies detected.Right isomerism cases usually exist with anomalous pulmonary venous connection,juxtaposition of the descending aorta and inferior vena cava as well as right aortic arch.The left isomerism cases usually have interruption of inferior vena cave,heart block and hypoplasia of aorta.

Objective To summarize our preliminary experience of selective fetieide with bipolar coagulation in complicated monochorionie twins(MCT),and discuss the clinical application of feticide in discordant MCT.Methods Three MCT with one twin anomaly.in which 2 had severe twin-twin transfusion syndrome(TTTS),stage Ⅳ ,and 1 had acardiac twin,were identified in the second trimester of pregnancy.To terminate the abnormal twin and isolate the co-twin's circulation completely.selective feticide was performed by umbilical cord occlusion with bipolar coagulation under guidance of ultrasound and fetoscopy.After each invasive procedure,serial monitoring was performed,including procedural complications,Doppler of fetal middle cerebral artery and umbilical artery.Pregnancies were followed up every 2 weeks for fetal growth until delivery.After birth the placentas and the terminated fetuses were examined.Result Cord occlusion was successfully accomplished in all 3 targeted fetuses,at 21,22 and 24 weeks of gestation respectively.One case with TTTS was complicated with rupture of the membrane in the terminated fetus at the 7th day after the procedure.and a healthy baby was born at 32 weeks.The other case with TTTS delivered a boy by cesarean section at 38 weeks.The third case with TRAP is at 35 weeks of gestations and under regular follow-up.Monochorionicity was confirmed by placental examination after delivery.and the effects of bipolar coagulation were observed at the,cord of terminated fetuses.Conclusions Umbilical cord occlusion witll bipolar coagulation is an effective procedure for selective feticide in MCT with one twin anomaly.The outcome of normal fetus can be favorable.

Objective To evaluate the association between fetal ventricular septal defects (VSD)and chromosomal abnormalities.Methods The 214 fetuses diagnosed VSD in the First Affiliated Hospital of Sun Yat-sen University from January 2008 to September 2011 were included.The VSD were categorized into 3 types:perimembranous,muscular and mixed (the defect could not be classified because the dimensions were larger than 5 mm) type.The perimembranous defect was subdivided into inlet and outlet subtypes.Complicated with other cardiac abnormalities/extracardiac abnornalities or not,the cases were divided into isolated VSD group,VSD complicating cardiac anomalies group (other cardiac and/or great vessels malformation),VSD complicating extracardiac anomalies group (include organ malformation and sonographic soft markers) and VSD with both cardiac and extracardiac anomalies group.G-banding chromosome analysis was advised for all cases.In cases that no karyotype was obtained,the phenotype of the newborns was examined by the pediatricians.And those appeared normal were defined as normal karyotype.Results (1) There were 134 (62.6％,134/214) perimembranous defects,including 91 (42.5％,91/214) inlet lesions and 43 (20.1％,43/214) outlet lesions.There were 35 (16.4％,35/214) muscular defects and 45 (21.0％,45/214) mixed type lesions.(2) Among the 214 VSD fetuses,46 (21.5％) were isolated VSD,34 (15.9％) were cases with other cardiac anomalies,87 (40.6％) were cases with extracardiac anomalies and 47 (22.0％) were cases with both cardiac and extracardiac anomalies.(3) The chromosomal karyotypes were obtained in 105 cases,and 21 cases were considered as normal according to the phenotype.Of all these 126 cases,46 (36.5％,46/126) had chromosomal abnormalities.(4) Inlet defects had the highest risk of chromosomal abnormalities (28/55,50.9％),while the muscular defects had the lowest risk (2/25,8.0％).The incidence of chromosomal abnormalities in outlet and mixed type was 33.3％ (9/27) and 7/19,respectively.The types of VSD were significantly correlated with chromosomal defects (P ＜ 0.01).(5) The incidence of chromosomal abnormalities in the 4 groups were 3.4％ (1/29),2/14,53.6％ (30/56) and 48.1％ (13/27),respectively.The risk of chromosomal abnormalities in the cases complicating extracardiac or both extracardiac and cardiac anomalies was significantly higher than the isolated VSD group (P ＜ 0.01).Conclusion Fetal VSD had a highest risk of chromosomal abnormalities,especially the inlet type and VSD with extracardiac abnormalities,and then the fetal karyotype should be recommended.

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.