Ultrasonographic and pathologic features in fetal arthrogryposis multiplex congenita / 中华超声影像学杂志

Objective:To summarize the prenatal sonographic characteristics of affected joints of fetal arthrogryposis multiplex congenita (AMC) by comparing the ultrasonographic features and the postnatal pathological manifestations.Methods:The cases of AMC detected by antenatal ultrasound and confirmed by postnatal pathology were collected in the First Affiliated Hospital of Sun Yat-Sen University and Kaiping Central Hospital from January 2015 to June 2020. The differences between prenatal ultrasonic manifestations, types of affected joints and postnatal pathological features were analyzed. And the different involvements of joints in AMC cases with or without other system abnormalities were also explored separately.Results:A total of 31 cases of AMC were included, in which 11 cases were with other system abnormalities and 20 cases without. No significant difference was observed in number of affected joints between these two groups ( P>0.05). The prenatal sonogram features were completely consistent with the postnatal pathological manifestations in 21 (21/31, 67.7%) cases. Among 31 cases, the involvement rates of joints were: interphalangeal joints of fingers (23/31, 74.2%), knee joints (20/31, 64.5%) and ankle joints (19/31, 61.3%), temporomandibular joint (11/31, 35.5%), wrists (11/31, 35.5%), elbow joints (10/31, 32.3%), interphalangeal joints of toes (6/31, 19.4%), spinal joints (2/31, 6.5%), shoulder joint (1/31, 3.2%) and hip joint (1/31, 3.2%), respectively. The coincidence rates of prenatal ultrasound in involved joints were: interphalangeal joints of fingers (100%), ankles (100%), spines (100%), hips (100%), wrists (90.9%), knees (75.0%), elbows (70.0%), jaws (54.5%), interphalangeal joints of toes (50.0%), and shoulders (0), respectively. Conclusions:When postural abnormalities of fetal upper and lower extremities are detected by prenatal ultrasound screening, especially overlapping fingers, extended knee and club foot, AMC should be kept on alert. Simultaneously, other joints should be carefully scanned to improve the prenatal detection rate of AMC.

Ultrasonic diagnosis and monitoring of fetal growth restriction / 中国医学影像技术

Fetal growth restriction (FGR) is defined as the fetus does not reach its biological growth potential as a consequence of impaired placental function. Currently, the biggest clinical problem in this field is how to distinguish FGR fetus from healthy small for gestational age (SGA) fetus. Ultrasonography was regarded as golden criteria in diagnosis of FGR. The key diagnostic indexes included abdominal circumference (AC), estimated fetal weight (EFW) and umbilical artery (UA) blood flow spectrum curve. Ultrasonic monitoring can help to predict the adverse perinatal outcomes and select the optimal time of delivery. Some monitoring indexes, including growth parameters such as EFW and AC, resistance index of UA, ductus venosous Doppler waveform, middle cerebral artery, cerebroplacental ratio, as well as resistance index of uterine artery have been proved to be helpful to monitoring and prognosis of FGR.

Prenatal ultrasound diagnosis of fetal microphthalmia / 中华超声影像学杂志

Objective@#To analyze the ultrasonic features, associated malformations and combined genetic abnormalities of microphthalmia .@*Methods@#The characteristics of 15 cases of fetal microphthalmia were retrospectively analyzed. And the proportion of fetal microphthalmia associated malformations were further assessed according to the different organ system.@*Results@#All the orbital diameters of affected eyes of the 15 cases were less than the 5th centile of normal fetal orbital diameter corresponding to gestational age. In which, 26.67%(4/15) fetuses had additional ocular defects, and 66.67%(10/15) were diagnosis with extrocular defects, including 20.00%(3/15) with central nervous system defects, 13.33%(2/15) with orofacial defects, 26.67% (4/15) with cardiac defect, 13.33%(2/15) with limb defect, 33.33% (2/15) with urogenital defect and 40.00%(6/15) with abnormal ultrasonographic soft markers. And the proportion of fetal microphthalmia associated extrocular defects showed no significant difference(P=0.502).@*Conclusions@#Fetal microphthalmia is frequently associated with random and sporadic occurrence of extrocular defects

Prenatal ultrasound diagnosis of fetal microphthalmia / 中华超声影像学杂志

Objective To analyze the ultrasonic features ,associated malformations and combined genetic abnormalities of microphthalmia . Methods The characteristics of 15 cases of fetal microphthalmia were retrospectively analyzed . And the proportion of fetal microphthalmia associated malformations were further assessed according to the different organ system . Results All the orbital diameters of affected eyes of the 15 cases were less than the 5th centile of normal fetal orbital diameter corresponding to gestational age . In which ,26 .67% ( 4/15 ) fetuses had additional ocular defects ,and 66 .67% ( 10/15 ) were diagnosis with extrocular defects ,including 20 .00% ( 3/15) with central nervous system defects ,13 .33% ( 2/15) with orofacial defects ,26 .67% ( 4/15) with cardiac defect ,13 .33% ( 2/15) with limb defect ,33 .33% ( 2/15) with urogenital defect and 40 .00% ( 6/15 ) with abnormal ultrasonographic soft markers . And the proportion of fetal microphthalmia associated extrocular defects showed no significant difference ( P ＝ 0 .502 ) . Conclusions Fetal microphthalmia is frequently associated with random and sporadic occurrence of extrocular defects

Chromosomal anomalies in fetuses with structural malformation detected by ultrasonography at 11-13+6 gestational weeks / 中华围产医学杂志

Objective To investigate the clinical performance of ultrasound screening for fetal structural anomalies at 11-13+6 weeks of gestation and to evaluate the relation of structural anomalies with karyotypes and copy number variations. Methods A retrospective analysis was conducted on fetuses with structural anomalies detected by ultrasound examination at 11-13+6 gestational weeks in First Affiliated Hospital of Sun Yat-Sen University from January 2013 to December 2017. Karyotype and chromosomal microarray analysis(CMA) were offered to these fetuses and ultrasound scans were repeated at 16-18 gestational weeks. All fetuses were followed up to termination or birth. Fisher's exact test was used for statistical analysis. Results A total of 362 fetuses with structural anomalies were studied including 101 (27.9%) fatal malformations, 253 (69.9%) major malformations and eight (0.2%) minor malformations. Cardiac malformation (32.6%, 118/362), central nervous system anomalies (24.9%, 90/362) and anterior abdominal wall defects (20.9%, 76/362) were the three most common abnormalities. Invasive prenatal test was performed in 107 cases including 25 fatal, 79 major and three minor malformations. Thirty (28%) out of the 107 cases had abnormal karyotypes, which were chromosomal aneuploidies (n=28) and chromosomal fragment abnormalities (n=2). Among the 99 cases received CMA, 25 had abnormal karyotypes, and copy number variations were identified in eight [three (4.05%) were pathogenic variations] out of the rest 74 with normal karyotypes. The incidence of chromosomal abnormalities in fetuses with major malformations was higher than that of fetuses with fatal malformation [32.9% (26/79) vs 12.0% (3/25), P=0.045]. Altogether, 117 cases repeated second-trimester ultrasound among which 16 (13.7%) were normal; 19 (16.2%) had cardiac defect which was discordant with the first-trimester evaluation and five (4.2%) were found to have additional malformations. Diagnosis of the other 77 cases were consistent with the first-trimester ultrasound findings. After the second-trimester ultrasound scanning, 49 pregnancies were terminated; 39 twin pregnancies and four triplet pregnancies underwent selective fetal reduction; 25 continued to delivery with good neonatal outcomes. Out of the 23 699 cases without abnormal ultrasound findings at 11-13+6 gestational weeks, 20 182 (85.2%) were successfully followed up, among which structural abnormalities were found in 178 during the second trimester and in 31 after birth. Conclusions A detailed ultrasound examination at 11-13+6 weeks of gestation is important to identify fetal structural defects. However, it could not replace the second-trimester ultrasound. There is a high risk of chromosomal abnormalities in fetuses with early-detected structural defects. CMA is able to identify pathogenic copy number variations with a relatively low detection rate.

Prenatal ultrasound diagnosis and clinical outcomes of fetal hepatohilar cystic occupying lesions / 中华超声影像学杂志

Objective To explore the prenatal ultrasound diagnosis and postnatal clinical outcomes of fetuses with hepatohilar cystic occupying lesions . Methods T his was a retrospective study that included all fetuses found to have hepatohilar cystic occupying lesions diagnosed by ultrasound in the First Affiliated Hospital of Sun Yat‐sen University between January 2008 and December 2017 . According to the morphology of the cyst and max diameter ,the cases were divided into four groups . Cases with polygonal cysts and max diameter over 30 mm were assigned to group 1 ,non‐polygonal cysts and max diameter over 30 mm to group 2 ,polygonal cysts and max diameter under 30 mm to group 3 ,non‐polygonal cysts and max diameter under 30 mm to group 4 . T he birth status ,ultrasound review image ,surgical treatment and pathological findings were tracked to analyze the prognosis of these fetuses . Results Among 47 cases of fetal hepatohilar cystic occupying lesions ,38 fetuses were born and 9 were terminated with only 1 case taking pathological examination . T here were 39 cases with pregnancy outcomes . T wenty‐seven cases ( 69 .2% ,27/39) were diagnosed as congenital biliary dilatation ( CBD) ,5 cases ( 12 .8% ,5/39) were found cysts resolved in postnatal ultrasound examinations . Biliary atresia was diagnosed in 3 cases ( 7 .8% ,3/39 ) by operation ; M esenteric cysts ( 5 .1% ,2/39) were diagnosed in 2 cases by ultrasound . One ( 2 .6% ,1/39) was diagnosed as double‐gallbladder by ultrasound . 1 ( 2 .6% , 1/39 ) was diagnosed as teratoma by operation . M ost cases were in the group 3 ,but there was no significant difference compared with other groups ( all P ＞ 0 .05) . Conclusions More than half of hepatohilar cystic occupying lesions diagnosed in prenatal ultrasound are proved to be CBD with good prognosis . T he cysts in few cases can be resolved after born . 7 .8% of cases are biliary atresia with poor prognosis ,w hich give messages to prenatal clinical consultation .

Analysis of copy number variation by CMA in fetus with increased nuchal translucency / 中华妇产科杂志

Objective To investigated the clinical value of chromosomal microarray analysis (CMA)in fetuses with increased nuchal translucency(NT). Methods Totally 101 cases out of 19261 singleton fetuses who underwent the first trimester(11-13+6 weeks)ultrasound examination from January 2015 to June 2017 at First Affiliated Hospital of Sun Yat-sen University were diagnosed with NT ≥2.5 mm and underwent invasive prenatal test for fetal karyotype and CMA. According to the combination of other ultrasound abnormalities,the cases were divided into isolated group(67.3％, 68 / 101)and complicated group(32.7％, 33/101). In addition, the cases were divided into 5 groups according to the thickness of NT,2.5-2.9 mm(borderline thickening;16.8％, 17/101), 3.0-3.4 mm(33.7％, 34/101), 3.5-4.4 mm(16.8％, 17/101),4.5-5.4 mm(15.8％, 16/101),and ≥5.5 mm(16.8％, 17/101). Chi square test was used to detect the different rates of other combined ultrasound abnormalities and abnormal chromosome between 5 groups. Results The median thickness of NT was 3.4 mm(2.5-8.5 mm). And 32 cases(31.7％, 32/101)had abnormal karyotype. There was a significant difference in the frequency of abnormal karyotype between the isolated and the complicated group(20.6％ vs 54.5％, P<0.01). Among 69 cases(68.3％,69/101) of normal karyotype, 3 cases(4.3％, 3/69)were detected with pathogenic copy number variation(CNV) by CMA. Thirty-five cases with chromosomal abnormalities(include abnormal karyotype and pathogenic CNV), there was a significant difference in the frequency of chromosomal abnormalities between the isolated and the complicated group(23.5％ vs 57.6％, P=0.001). The median age of pregnant women in 5 groups was 35 years(24-39 years),33 years(23-46 years),31 years(21-46 years),33 years (21-41 years) and 35 years (21-43 years). The rates of chromosomal abnormalities increased with the increase of NT thickness. There was significant difference in the incidence of associated chromosomal abnormalities among 5 groups(P<0.05). Comparative analysis within the 5 groups, the incidence of associated chromosomal abnormalities between NT 2.5-2.9 mm and ≥5.5 mm was significantly different (P=0.005), while the differences between the other groups were not significant(P>0.05). Conclusions There is a high risk of fetal chromosomal abnormalities in borderline NT thickening (2.5-2.9 mm)at advanced maternal age, but the pathogenic CNV is not detected. Chromosomal microdeletion or microduplication could be further detected in the NT thickening(≥3.0 mm)fetuses with normal karyotype by chromosome microarray analysis, while the positive rate is relatively low, and the variants of unknown significance might be detected.

Prenatal Sonographic Characteristics of Clubfoot and Relationship with Chromosomal Abnormalities / 中山大学学报(医学科学版)

[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.

Effects of two different venous drainage patterns on the prognosis of fetal pulmonary sequestration / 中华超声影像学杂志

Objective To evaluate the effect of two different venous drainage patterns on the prognosis of fetal pulmonary sequestration( PS) . Methods Sixty cases of fetal PS with confirmed venous drainage diagnosed by prenatal ultrasound were retrospectively analyzed . Changes of the volumes of PS lesions and the clinical outcomes were compared between two different venous drainage patterns . Results Among the total 64 cases ,34 cases were pulmonary venous drainage and 30 cases were systemic venous drainage . There was no case combined with any abnormality in pulmonary venous drainage group;whereas , 6 cases combined with other abnormalities in systemic venous drainage group ,between which significant difference was noted( P =0 .02) . In pulmonary venous drainage group ,there was no significant difference in the volumes of PS lesions between at 20-24 weeks′gestational age(WGA) and at 24+1 -30 WGA( P >0 .05) ;but not between at 24+1 -30 WGA or at 20 -24 WGA and at 30+1 -39 WGA ( P 0 .05) . Postnatal respiratory symptoms and postnatal surgery rates were similar between the two groups( P > 0 .05) . Conclusions PS with systemic venous drainage is more likely combined with other abnormalities than PS with pulmonary venous drainage . The lesion volumes of PS with pulmonary venous drainage decreas remarkably during the middle‐late pregnancy . Nevertheless ,the clinical postnatal outcomes are both favorable in the two groups .

The value of two-dimensional ultrasound combined with three-dimensional spatio-temporal image correlation (STIC)in the diagnosis of fetal heterotaxy syndrome / 中华超声影像学杂志

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).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.

Radiofrequency ablation and bipolar umbilical cord coagulation for complicated monochorionic twins / 中华围产医学杂志

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.

Indirect ultrasonic signs of the callosal partial agenesis and hypoplasia in the fetus / 实用医学杂志

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.

Comparison between the aorta and pulmonary artery dimensions z-score in fetus with tetralogy of Fallot and normal fetus / 中华超声影像学杂志

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.

Investigation of ultrasound markers in screening fetal trisomy 21 / 中华妇产科杂志

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.

Association between fetal ventricular septal defects and chromosomal abnormalities / 中华妇产科杂志

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.

Ultrasonographic indicators predicting the outcomes of monochorionic twins with selective fetal growth restriction / 中华围产医学杂志

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.

Comparison of the prenatal ultrasonic features between left and right isomerism / 中华超声影像学杂志

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.

Prenatal diagnosis of trisomy 18 syndrome with sonogram index scoring system / 中华妇产科杂志

Objective To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome.Methods Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009.The fetuses who were suspected with abnormalities received karyotype analysis.All fetuses were divided into case group ( trisomy 18 group) and the control group (non-trisomy 18 group).The latter group was constituted of fetuses with trisomy 21,trisomy 13,other chromosomal abnormalitis and fetuses with normal karyotype.Logistic regression analysis was done to decide the individual sonographic features of trisomy 18.A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome.A score of 3 was assigned for the sonographic features with likelihood ratio over 200,2 for those with likelihood ratio between 100 and 200,and 1 for those with likelihood ratio less than 100.The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test.The optimal cutoff value was determined by receiver operating characteristic (ROC) curve.Results The study group included 59 fetuses with trisomy 18.And 26 486 fetuses did not have trisomy 18 syndrome,including 93 fetuses with trismoy 21,19 fetuses with trisomy 13,134 fetuses with other chromosomal abnormalities,3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth.Two or more structural defects were observed in each trisomy 18 fetus.The highest incidence of sonogram abnormalities was extremities abnormalities (85％,50/59 ),followed by cardiac defects (83％,49/59) and central nervous system (CNS) malformations (75％,44/59).Overlapping fingers,ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities,cardiac defects and CNS malformations,respectively.Logistic regression identified 16 markers,including choroid plexus cyst,strawberry-shaped skull,enlarged cisterua magna,holoprosencephaly,low-set ears,ventricular septal defect,hypoplastic left heart syndrome,etc.Different scores were assigned according to the likelihood ratios of these markers.In trisomy 18 group,fetuses with the sonographic score of 1,4,9,10 to 16 were 2％ ( 1/59),9％ (5/59),10％ (6/59) and 32％ (19/59) respectively,whereas in non-trisomy 18 group they were 2.549％ (675/26 486),0.215％ (57/26 486),0.004％ ( 1/26 486) and zero,respectively.When a score of 4 was used as the cutoff value for diagnosing fetal trisomy 18,the sensitivity and specificity were 0.966 and 0.997,respectively.The area under ROC curve was 0.999.Conclusions The ultrasound index scoring system may help to quantify the ultrasound features and has a good diagnostic value for fetal trisomy 18 syndrome.The cutoff value of 4 has the best diagnostic efficacy.

Concomitant malformations and chromosomal abnormalities in prenatally diagnosed congenital diaphragmatic hernia / 中华围产医学杂志

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.

Ultrasonographic fetal nasal bone assessment in prenatal screening for Down syndrome / 中华妇产科杂志

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.