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.

Prognosis for Monochorionic Twins with Twin Reversed Arterial Perfusion Sequence / 中山大学学报(医学科学版)

[Objective] The purpose of this study was to evaluate the association of ultrasound findings and different treatments with the prognosis of the pump twin in twin reversed arterial perfusion sequence (TRAP).[Methods] The 55 cases that were diagnosed as TRAP during the period from January 4th 2010 and August 31st 2015 were included.Ultrasound appearances of monochorionic twins were documented in detail when the twins were diagnosed with TRAP initially.At the initial evaluation,presence or absence of the following abnormalities were documented,including the ratio of the acardiac twin to the weight of the pump twin,hydrops fetalis in the pump twin,cardiomegaly in the pump twin,polyhydramnios in the pump twin,oligohydramnios in the acardiac twin and different treatments.The relationship between these ultrasound characteristics and different treatments with mortality of pump twin were analyzed with logistic regression.[Results] A total of 55 cases with TRAP were diagnosed in our institution and three cases were lost to follow up.Selective reduction was performed in 21 cases,termination of pregnancies in 13 and expectant management in 18.Excluding the cases that underwent termination of pregnancy,the remaining 39 cases were divided into two groups according treatment,expectant management group (n=18) and selective reduction group (n=21).Overall survival rate of the pump twin in these two groups was 66.7％ and 71.4％,respectively,P =0.748.The markers of perinatal outcome were not significantly different between expectant management group and selective reduction group.Logistic regression demonstrated that cardiomegaly in the pump twin (OR=21.73,95％CI:1.15 ～ 203.89,P ＜ 0.001) were significant correlated with mortality of the pump twin.[Conclusion] The prognosis markers were not significantly different between conservative management and selective reduction group.Cardiomegaly in the pump twin should be considered as risk predictors for mortality of the pump twin in TRAP.

Cardiac Screening in the First Trimester Using Three-dimensional Ultrasound with Spatiotemporal Image Correlation / 中山大学学报(医学科学版)

[Objective] To evaluate the value of cardiac screening in the first trimester by using three-dimensional ultrasound with spatiotemporal image correlation (STIC) and to analyze the value of different views for cardiac assessment.[Methods] This study retrospectively reviewed the eighty-seven fetuses with congenital heart diseases which were diagnosed in our institution between January 4th 2013 and June 30th 2016.We compared the detection rate of prenatal ultrasound screening with STIC in the first trimester and the results of postnatal echocardiography or autopsy.In addition,the detection rates of the different planes,including four-chamber view (4CV),outlet of the left ventricle (OLV),outlet of the right ventricle (ORV) and three vessels-trachea view (3VT) were analyzed.[Results] Severe cardiac anomalies were identified in 62 fetuses (71.3％) and non-severe cardiac anomalies were identified in 25 fetuses (28.7％).Seventy-eight cases (89.7％,78/87) with congenital heart diseases could be detected by using three-dimensional ultrasound with STIC.The detection ratesfor 4CV,4CV+OLV,4CV+ORV,4CV+3VT,4CV+OLV+ORV and 4CV+OLV+ORV+3VT were 48.3％,64.4％,66.7％,79.3％,69.0％ and 89.7％ respectively.[Conclusions] Three-dimensional ultrasound with STIC could detect congenital heart disease in the first trinester.The four-chamber view plus outlet of the left ventricle,outlet of the right ventricle and three vessels-trachea view could increase the detection rates of congenital heart diseases.

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 .

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.

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.

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.

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.

Overview of application of psychological intervention of Chinese medicine / 国际中医中药杂志

The author summarized the contents and clinical applications of psychological intervention of Chinese medicine, including its basic principle and methods. On the basis of inheriting traditional psychological intervention of Chinese medicine, the author further expounded reverse-application principle of psychological intervention, extending therapy of thought therapy (thought-illusion therapy), and other relative psychological therapies. Ancient valuable therapeutic cases were also introduced in this article.