Diagnosis and prognosis of fetal isolated vascular ring by ultrasonography in the first trimester / 中华超声影像学杂志

Objective:To explore the feasibility and prognosis of prenatal ultrasonic diagnosis of fetal isolated vascular ring at 11-13 + 6 weeks. Methods:A total of 36 996 fetuses were selected to compare the results of ultrasound screening at 11-13 + 6 weeks and 20-24 weeks of pregnancy in Guangxi Maternity & Child Healthcare Hospital from January 2016 to January 2020, the reasons for missed diagnosis and misdiagnosis of fetal isolated vascular ring by ultrasonography in the first trimester were summarized. Results:Thirty-five cases were diagnosed as isolated vascular ring in the first trimester, including 19 cases right aortic arch combined with aberrant left subclavian artery with "U-shaped" vascular ring, 7 cases double aortic arch with "O-shaped" vascular ring, and 9 cases aberrant right subclavian artery with "C-shaped" vascular ring. While 155 cases were diagnosed as isolated vascular ring at 20-24 weeks of pregnancy, consisting of 18 cases of combined with aberrant left subclavian artery, 9 cases of double aortic arch, 126 cases of aberrant right subclavian artery and 2 cases of pulmonary artery sling, the diagnosis coincidence rates were 94.74%, 77.78%, 7.14%, 0(Kappa value were 0.97, 0.88, 0.13, 0). For the diagnosis of right aortic arch combined with aberrant left subclavian artery, double aortic arch and aberrant right subclavian artery in the first trimester, the specificities were 99.99%, 100%, 100%, the sensitivities were 100%, 77.78%, 7.14%, the false-positive rates were 0.01%, 0, 0, the false-negative rates were 0, 22.22%, 92.86%, and the Youden′s indices were 0.99, 0.78, 0.07.Conclusions:Right aortic arch combined with aberrant left subclavian artery and double aortic arch have high coincidence rate by ultrasonography in the first trimester, while the diagnostic coincidence rate of isolated aberrant right subclavian artery was low. Ultrasound screening for isolated vascular ring in the first trimester still needs ultrasound examination in the second trimester to exclude the minor cardiac malformations that are difficult to diagnose in the first trimester.

Analysis of prenatal diagnosis by ultrasonography and clinical outcome of isomerism syndrome in the first trimester / 中华超声影像学杂志

Objective:To assess the value of ultrasonography in the diagnosis of fetal isomerism syndrome in the first trimester.Methods:Sonographic features of 15 fetuses with isomerism syndrome diagnosed in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to March 2020 were reviewed. Ultrasonic characteristics in the first trimester were analyzed, and the ultrasonic characteristics of early mid-trimester and pathological anatomical results were combined for comparison.Results:There were 6 cases of left isomerism syndrome (LIS) and 9 cases of right isomerism syndrome (RIS) in the 15 fetues.Increased nuchal translucency(NT) (≥3.0 mm, 6 cases), reversed A wave in ductus venosus (10 cases), and atrio-ventricular valve regurgitation (14 cases) were found during the first trimester. There were 14 cases with abnormal visceral laterality. Of the 15 fetues, 14 cases with cardiac malformations, including 6 cases of functional single ventricle, 8 cases of complete atrioventricular septal defect (CAVSD), and 12 cases with great artery abnormalities. All of the 6 LIS cases had bradycardia, 3 cases had interruption of inferior vena cava (IVC). Six cases of RIS had juxtaposition of descending aorta and IVC, and 1 case of RIS had total anomalous pulmonary vein drainage. The major structural malformations were consistent with the early mid-trimester ultrasound examination or autopsy. Karyotype and chromosomal microarray were available in 12 cases and all were normal.Conclusions:Isomerism syndrome has high positive rate of fetal aneuploidies ultrasonographic marker, especially with the atrio-ventricular valve regurgitation, but the risk of chromosome abnormality is low. Ultrasound screening for fetal cardiac structural abnormalities is beneficial to the early diagnosis of isomerism syndrom in the first trimester.

Comparative study on ultrasonic diagnosis and pathological anatomy of congenital absent semilunar valve in first trimester / 中华超声影像学杂志

Objective@#To investigate the echocardiographic characteristics, pathological anatomy and genetic abnormality of congenital absent semilunar valves in first trimester.@*Methods@#Eleven cases of congenital absent semilunar valve fetus diagnosed at 11-13+ 6 weeks of gestation in Guangxi Magernity & Child Healthcare Hospital from December 2014 to December 2018 were analyzed. The characteristics of echocardiography and the abnormal microanatomy of cardiac tissue after labor induction was compared.@*Results@#The crown-lump length of the 11 fetus was 46-74(62.0±9.2)mm, and nuchal translucency thickness(NT) was 2.4-10.4 (6.4±2.6)mm. The NT of 10 cases were greater than 3.0 mm. Color Doppler flow imaging revealed that biphasic bidirectional flow in the aortic arch and/or pulmonary artery at the 3VT view( "to-and-fro" ) in those 11 cases, and pansystolic turbulence and pandiastolic reflux spectrum were showed on spectral Doppler. Among them, there were 10 cases of " stealing type" , including 2 cases of isolate absent aortic valves, 3 cases of absent pulmonary valves and 5 cases of absent both aortic and pulmonary valves; and all the 10 cases had secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed that 4 cases with Trisomy 13 syndrome, 3 cases with Trisomy 18 syndrome, 1 case with 22q11.2 deletion, 1 case with 12q24.32q24.33 deletion and 1 case was normal. Pathological anatomy revealed enlarged heart in 8 cases, isolate absent aortic valves in 2 cases (1 case complicated with pulmonary atresia, absence of ductus arteriosus and thymus), absent pulmonary valves in 3 cases, absent both aortic and pulmonary valves in 3 cases, relics of semilunar valves in 3 cases. And 2 cases of absent pulmonary valves and 3 cases of absent both aortic and pulmonary valves with short and thick ductus arteriosus. Only 1 case was congenital absent semilunar valve in " non-stealing type" without secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed 22q11.2 deletion, and there were relics of semilunar valves in the pathological anatomy. It also combined with tetralogy of Fallot and absence of ductus arteriosus.@*Conclusions@#In first trimester, congenital absent semilunar valves are more common as " stealing type" . The echocardiographic features of congenital absent semilunar valves are the " in-out sign" of aorta arch and/or pulmonary artery and biphasic spectrum in spectral Doppler. Trisomy 13 syndrome and trisomy 18 syndrome significantly increased the risk of congenital absent semilunar valves in " stealing type" in first trimester.

Z-score reference ranges of normal fetal middle cerebral artery peak systolic velocity / 中华超声影像学杂志

Objective:To construct Z-score ranges for normal fetal middle cerebral artery peak systolic velocity(MCA-PSV).Methods:From May 2017 to October 2019, 865 normal singleton fetuses of 10th to 40th gestational weeks underwent prenatal ultrasound in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. Using fetal biometric parameters as independent variables, and measurement of MCA-PSV on standard section as dependent variables, the regression analyses of the mean(M) and the standard deviation(SD) for each parameter were calculated separately and then the best fitting equation was selected. A group of diseases which might cause the abnormal MCA-PSV were assessed using these standards.Results:①Strong correlations were found between MCA-PSV and fetal biometric parameters ( r=0.935-0.939, P<0.001). ②Quadratic or cubic regression equations were fitted to the models of the means of the MCA-PSV, whereas linear equations were fitted to the SDs. ③In these case groups, intrauterine growth restriction, severe preeclampsia, intrauterine infection and homozygous α-thalassemia-1 demonstrated Z-score>2 reflective of increased MCA-PSV with varying degrees, especially with the homozygous α-thalassemia-1 fetus being the most significant (17/20, 85%). Conclusions:The calculation of Z-score for MCA-PSV as a function of fetal biometric parameters is intuitive and simple, it can be used as an important indicator especially for homozygous α-thalassemia-1.

Study of Z-score of fetal heart circumference and heart area in prediction of homozygous α-thalassemia / 中华超声影像学杂志

Objective:To explore the values of Z-scores of fetal heart circumference (HC) and heart area (HA) in prediction of homozygous α-thalassemia.Methods:From February 2014 to March 2019, 233 fetuses of 15 to 23 gestation weeks with risk of homozygous α-thalassemia were examined by prenatal ultrasound in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. HC, HA and cardiothoracic ratio (CTR) were measured. HC and HA were converted into Z-scores, respectively. The ROC curves were established and analyzed based on HC Z-score, HA Z-score or CTR respectively to compare their predicting efficacies for fetal homozygous α-thalassemia. Finally, the sensitivity, specificity, positive predictive value and negative predictive value were obtained by the best cutoff values.Results:①Sixty-five fetuses were diagnosed as homozygous α-thalassemia and classified as α-thalassemia group. One hundred and sixty-eight fetuses were mild and normal and were classified as control group. ②HC Z-score, HA Z-score and CTR in the α-thalassemia group were significantly higher than those in the control group, and the differences between the two groups were statistically significant ( P<0.001). ③The area under ROC curve of HA Z-score was the largest compared with HC Z-score and CTR, and the prediction efficacy was the highest ( Z test=2.144 and 2.517 respectively, P<0.05). ④The best cutoff values were HC Z-score>1.67, HA Z-score>2.06 and CTR>0.53. Sensitivities of predicting homozygous α-thalassemia in 15 to 23 gestation weeks were 92.31%, 100% and 89.23%, respectively. Specificities were 94.05%, 95.83% and 93.45%, respectively. Positive predictive values were 84.43%, 89.00% and 84.05%, respectively. Negative predictive values were 96.91%, 100% and 95.57%, respectively. Conclusions:Fetal heart HC Z-score and HA Z-score are safe and effective novel ultrasonic indexes for predicting homozygous α-thalassemia. Especially compared with traditional CTR, HA Z-score has a significantly higher predicting efficacy, which can improve the detection rate of homozygous α-thalassemia and reduce the need for invasive examination.

Comparative study on ultrasonic diagnosis and pathological anatomy of congenital absent semilunar valve in first trimester / 中华超声影像学杂志

Objective:To investigate the echocardiographic characteristics, pathological anatomy and genetic abnormality of congenital absent semilunar valves in first trimester.Methods:Eleven cases of congenital absent semilunar valve fetus diagnosed at 11-13 + 6 weeks of gestation in Guangxi Magernity & Child Healthcare Hospital from December 2014 to December 2018 were analyzed. The characteristics of echocardiography and the abnormal microanatomy of cardiac tissue after labor induction was compared. Results:The crown-lump length of the 11 fetus was 46-74(62.0±9.2)mm, and nuchal translucency thickness(NT) was 2.4-10.4 (6.4±2.6)mm. The NT of 10 cases were greater than 3.0 mm. Color Doppler flow imaging revealed that biphasic bidirectional flow in the aortic arch and/or pulmonary artery at the 3VT view( "to-and-fro" ) in those 11 cases, and pansystolic turbulence and pandiastolic reflux spectrum were showed on spectral Doppler. Among them, there were 10 cases of " stealing type" , including 2 cases of isolate absent aortic valves, 3 cases of absent pulmonary valves and 5 cases of absent both aortic and pulmonary valves; and all the 10 cases had secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed that 4 cases with Trisomy 13 syndrome, 3 cases with Trisomy 18 syndrome, 1 case with 22q11.2 deletion, 1 case with 12q24.32q24.33 deletion and 1 case was normal. Pathological anatomy revealed enlarged heart in 8 cases, isolate absent aortic valves in 2 cases (1 case complicated with pulmonary atresia, absence of ductus arteriosus and thymus), absent pulmonary valves in 3 cases, absent both aortic and pulmonary valves in 3 cases, relics of semilunar valves in 3 cases. And 2 cases of absent pulmonary valves and 3 cases of absent both aortic and pulmonary valves with short and thick ductus arteriosus. Only 1 case was congenital absent semilunar valve in " non-stealing type" without secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed 22q11.2 deletion, and there were relics of semilunar valves in the pathological anatomy. It also combined with tetralogy of Fallot and absence of ductus arteriosus.Conclusions:In first trimester, congenital absent semilunar valves are more common as " stealing type" . The echocardiographic features of congenital absent semilunar valves are the " in-out sign" of aorta arch and/or pulmonary artery and biphasic spectrum in spectral Doppler. Trisomy 13 syndrome and trisomy 18 syndrome significantly increased the risk of congenital absent semilunar valves in " stealing type" in first trimester.

Value of the ratio of fetal cardiac diameter to biparietal diameter in prediction of homozygous α-thalassemia-1 fetuses / 中华超声影像学杂志

Objective To evaluate the efficacy of the ratio of the fetal cardiac diameter to biparietal diameter( CBR) as a predictor of homozygous α-thalassemia-1 . Methods Single mid-pregnancies ( 15-22weeks) at risk of homozygous α-thalassemia-1 were enrolled . A total of 251 singleton pregnancies were recruited ,in which 63 cases were homozygous α-thalassemia-1 fetuses and the rest were unaffected . The CBR and cardiothoracic ratio(CTR) were measured by two-dimensional ultrasound . Then the accuracy of these variables were analyzed and compared with each other by ROC curves . Results ①The CBR and CTR in affected fetuses were significantly higher than those in the unaffected( P ＜0 .01) . ②With CBR＞0 .43 and CTR ＞ 0 .52 as the best cut off values ,the sensitivity and specificity of predicting homozygous α-thalassemia-1 fetuses in 15-22 gestational weeks were 95 .74% , 92 .06% and 94 .15% , 85 .71% , respectively ;the area under ROC curve were compared with Z test and there was no significant difference between them ( Z ＝ 1 .500 , P ＝ 0 .1335) . ③ When CBR and CTR were combined ,the sensitivity and specificity of the prediction were significantly increased ( the sensitivity of series experiment : 99 .75% ,the specificity of parallel experiment : 98 .87% ) . Conclusions CBR is a novel , effective and noninvasive predictor of homozygous α-thalassemia-1 in mid-pregnancy whose prediction efficiency is the same as traditional CTR . The measurement of CBR is easier to standardize and is not affected by thoracic lesions such as pleural cavity ,pericardial effusion and skeletal dysplasia . If combined with CTR ,it may play an important role in improving the prenatal detection rate of homozygous α-thalassemia-1 fetuses .

The new approach in the location of the fetal conus medullaris and its application in tethered cord syndrome / 中华超声影像学杂志

Objective To evaluate the position of the fetal conus medullaris during pregnancy and its value in detecting tethered cord syndrome(TCS). Methods Nine hundred and seventy-four normal fetuses and 46 fetuses with TCS between 15 and 41 weeks gestation were involved in the study.Parameters D 1 (the distance between the end of the conus medullaris and the caudal edge of last vertebral body ossification center) and D2 (the distance from the end of the conus medullaris to the caudal skin namely the intersection point of the extending line of D1 and the skin) were measured in the caudal midsagittal plane of the spine. Sixty normal fetuses were chosed randomly for interobserver variability.Correlation analysis between these two parameters and gestational age(GA) were conducted and the normal reference value of these parameters were calculated in normal group. The ratios of growth parameters ( Biparietal diameter, Head circumference,Abdominal circumference,Femur length) to D1 and D2 were calculated separately to observe the difference of the ratios between two groups. All the parameters and ratios of normal fetuses were compared with that of TCS cases.Results There was no significant difference in D1 and D2 between two observers.A significant linear correlation between the parameters and GA was found in normal group,linear regression equations were D1=0.251 GA -2.265 cm (R2=0.926,P <0.01) and D2=0.267 GA -1.812 cm(R2=0.928,P <0.01),respectively.D1 and D2 were much lower in normal group than in abnormal group (all P <0.01). The ratios of the growth parameters to D1 and D2 were relatively stable and had statistically differences between two groups in different gestational age. Conclusions The methods that determination of D1 and D2 are simple and feasible,and could help to the prenatal diagnosis of TCS.

Clinical diagnosis value of echocardiography and prognosis evaluation to fetus with persistent truncus arteriosus / 中华超声影像学杂志

Objective To evaluate prenatal diagnosis value of echocardiography in pathological types,differential diagnosis and accompanied malformations of fetal persistent truncus arteriosus(PTA).MethodsTwenty-four cases of PTA selected from 1 392 cases were analysed,who were definitely diagnosed to be suffered from cardiovascular malformation by fetal echocardiography.The ultrasound findings,pathological results and followed up were analysed.According to Van Praagh classification,the type IV PTA was excluded in this study which was classified into pulmonary artery atresia.Results The total PTA were 24 cases,in which 10 cases of A1 type,3 cases of A2 type,9 cases of A3 type,and 2 cases of A4 type.Nine cases of PTA accompanied other cardiac anomalies,and 1 case of PTA accompanied both cardiac anomalies and extracardial malformations.Two PTA cases were born,one was A1 type underwent surgical intervention,and the other was died due to multiple organ-failure.Fourteen PTA cases were termination and 7 cases were confirmed by pathology.Seven women pregnant again,of which 5 cases were born while only one was diagnosed atrial septal defect after birth,2 pregnant women were still during follow-up.Eight PTA cases follow-up were lost.Conclusions A1 type and A3 type of PTA have high incidence in fetus.Accompanied cardiac anomalies is certainly related to different types.Combination of multiple ultrosund techniques can diagnose PTA prenatally,make accurate classification and detect accompanying malformations,which is of great significance to offer proper pregnancy counselling and postpartum treatment.

Value of fetal heart diameter Z-score in prediction of homozygous α-thalassemia-1 at mid-pregnancy / 中华超声影像学杂志

Objective To evaluate the efficacy of fetal heart diameter(HD)Z-score as predictors of homozygous α-thalassemia-1.Methods Two hundred and fourteen cases of Single mid-pregnancies(1 5-22 W)at risk of homozygous α-thalassemia-1 were enrolled.Fetal HD were first measured.Next,the Z-scores of HD were calculated separately based on previously constructed Z-score models.Finally,the accuracy of this variable was analyzed and compared with that from the cardiothoracic ratio(CTR)by ROC curves analysis.Results ①A total of 214 singleton pregnancies were recruited in which 57 cases were homozygous α-thalassemia-1 fetuses and the other 157 cases were unaffected.②The affected fetal HD and Z-score were significantly higher than those in the unaffected fetuses(P <0.01).③With the HD Z-score >2.76 as the best cutoff value,the sensitivity and specificity of predicting homozygous α-thalassemia-1 fetuses in 1 5-22 gestational week were 92.98% and 100%;If a best cut-off value of CTR >0.52 was used for prediction,the sensitivity was 87.72% and the specificity was 91.72%.Compared with CTR,the discriminative power of HD Z-score was better(Z value=2.286,P <0.01).Conclusions HD Z-score is a novel,effective and noninvasive predictor of homozygous α-thalassemia-1 in mid-pregnancy.Its prediction efficiency is higher than that of traditional CTR.It can improve the prenatal detection rate of homozygous α-thalassemia-1 fetus,reduce unnecessary invasive operation and save expenses.

A study on normal fetal heart size Z-score model derived from fetal echocardiography / 中华超声影像学杂志

Objective To construct Z-score models for normal fetal heart size measurements derived from fetal echocardiography.Methods Fetal echocardiography were performed in 910 normal singleton fetuses from 14th to 40th gestational weeks.Fetal transverse heart diameter (HD),heart length (HL),heart circumference (HC) and heart area (HA) were derived from a standard four-chamber view during end diastole.Using fetal somatic sizes as independent variables and heart sizes as dependent variables,the regression analyses of the mean (M) and the standard deviation (SD) for each parameter were calculated separately.A group of fetal heart diseases were assessed using these models.Results Strong correlations were found between fetal heart sizes and somatic sizes.Linear-cubic regression equations were each fitted to the models of the means of the heart sizes,whereas linear-quadratic equations were fitted to the models of the SDs.HD (r =0.984-0.986) was a dependent variable that provided the highest correlation coefficient with all of the fetal sizes,followed by HL (r =0.981-0.984),HC (r =0.981-0.982) and HA (r =0.978-0.979).All fetuses with Ebstein' s anomaly and most with homozygous α thalassemia-1 demonstrated Z scores reflective of increased heart sizes.Conclusions The fetal heart sizes Z-scores models had been constructed.The calculation of Z-scores for heart sizes as a function of fetal somatic size is feasible and simple.They might be useful for quantitative assessment of some cardiac diseases and used as new predictive indicators for homozygous α-thalassemia-1 particularly.