【Objective】 To screen the distribution frequency of Mur blood group among voluntary blood donors in Hezhou, Guangxi, and further analyze the molecular basis of of Mur antigen positive samples. 【Methods】 The Mur phenotype of voluntary blood donors in Hezhou was serologically screened using microplate method, and the distribution frequency of Mur antigens in different ethnic groups was analyzed. Genetic typing was performed on these positive samples with PCR-SSP method to verify the accuracy of the serological method, and the genetic background was sequenced and analyzed. 【Results】 Among 3 298 samples from voluntary blood donors in Hezhou, 432(13.10%, 432/3 298) were screened positive for Mur antigen, and PCR-SSP genotyping validation showed that all 432 samples were electrophoretic positive. Among them, the proportion of Han blood donors with positive Mur antigen was 12.79%(331/2 587), Yao ethnic group was 13.25%(64/483), Zhuang ethnic group was 16.51%(36/218), and no statistically significant difference was found in the three groups(P>0.05). Further sequencing results showed that 428 samples were GYP(B-A-B) Mur, also known as GYP. Mur type(12.98%, 428/3 298), the other 4 samples were GYP(B-A-B) Bun, also known as GYP. Bun type(0.12%, 4/3 298). 【Conclusion】 The Mur blood type frequency is high in the voluntary blood donors in Hezhou, Guangxi, and is predominant characterized by GYP. Mur genotype. Due to ethnic integration, no significant difference was noticed in the frequency of Mur blood type distribution between Han, Zhuang and Yao population. Therefore, conducting extensive Mur blood group antigen and antibody testing in Hezhou is of great significance for ensuring clinical blood transfusion safety.

Objective To discuss the ultrasonographic feature and prognosis of the fetal dacryocystocele and its correlation.Methods The ultrasonographic feature of 51 patients diagnosed as dacryocystocele prenatally by sonography were retrospectively analyzed.All fetus were followed up to induced labor or 6 months after birth.The correlation between the size and the gestational age were analyzed by correlation analysis method and compared the fetal prognosis adopt U test.Results The incidence of dacryocystocele diagnosed prenatally by ultrasound was about 0.47‰.The diagnosis was established by the detection of a cystic lesion in relation to the medial and inferior aspects of the fetal orbit.Unilateral dacryocystoceles were more often found than bilateral,and left more than right.The maximum diameter range from 2.0 mm to 12.0 mm,average (5.9 ± 2.2)mm.There is no correlation between cyst size and gestational age.Prognosis of isolated nasolacrimal duct cyst is good.Conclusions The fetal dacryocystocele have typical ultrasonographic feature,Ultrasound is a rapid and reliable method which can be used for diagnosis of dacryocystocele prenatally and follow-up after birth.

Objective To explore the clinical value of Doppler flow spectrums of umbilical artery and ductus venosus in fetus with arrhythmia by Doppler ultrasound in evaluating the fetal prognosis.Methods Umbilical artery and ductus venosus flow spectrums were obtained in a total of 796 pregnancies with gestation age between 16-41 weeks who were found abnormal heart rhythm by maternity auscultation,fetal electronic monitoring or ultrasound.All these fetuses were followed up by electrocardiography and echocardiography examination until the end of pregnancy and the pregnancy outcomes were recorded.Results Among 796 fetuses,136 cases of fetal arrhythmia were detected.There were 18 cases appeared with umbilical artery absent or reversed end-diastolic flow,and 9 cases with absent or reversed wave A.Among 18 fetuses with arrhythmia whose blood flow spectrums of umbilical artery were abnormal,twelve were compared with congenital heart disease.The proportion of fetal bradycardia associated with abnormal flow spectrums and congenital heart disease were higher than other types of arrhythmias.Conclusions Pregnancy outcome of the fetus with arrhythmias who appeared with normal umbilical artery and ductus venosus will be good,and conversely is poor.So Doppler flow spectrums of the fetal umbilical artery and ductus venosus is one of the important indicators in early intervention.

Objective To investigate the prenatal ultrasonographic features of absent pulmonary valve syndrome APVS Methods The ultrasonographic images follow-up results and the other clinical data of 1 7 fetuses suffering from APVS were retrospectively analyzed According to the difference of the pulmonary artery diameter subjects were divided into pulmonary artery PA dilated group 14 cases and non-dilated group 3 cases The sonographic features of the two groups were analyzed and compared Results All 1 7 fetuses had rudimentary or absent pulmonary valves and stenosis of the pulmonary annulus Moderate or severe regurgitation flowed through pulmonary artery and right ventricular outflow in diastole PA dilated group might be combined with Tetralogy of Fallot double outlet of right ventricle or right ventricular aneurysm there were 85 7% 12 14 with absent ductus arteriosus The forward flow velocity during systole through pulmonary annulus was significantly fast PA non-dilated group could be accompanied by Ebstein's anomaly or tricuspid atresia Ductus arch was always present The forward flow velocity during systole through pulmonary annulus was slow Conclusions The fetal pulmonary artery diameter with APVS can dilate or not Reverse flow during diastolic period which rushes from arteriosus ductus to the right ventricular outflow tract contributes to the prenatal diagnosis of non-dilated PA.

Objective To explore the clinical value of two dimensional and color Doppler echocardiography in diagnosis of infants with coarctation of the aorta(CoA),and to analyse the cause of missed diagnosis and misdiagnosis.Methods The echocardiographic characteristics of 87 infants with CoA were analyzed retrospectively,and the results were compared with surgical findings.Results Seventy-five patients were correctly diagnosed,while 9 patients were missed and 3 patients were misdiagnosed.Discrete coarctation was found in 67 cases,whereas tubular coarctation was detected in 8 cases of CoA.Conclusions Mastering the echocardiographic characteristics of infants with CoA and carefully scanning the sternum nest section,combined with two dimensional and color Doppler echocardiography,could avoid missed diagnosis and misdiagnosis.

Objective To summarize and analyze the prenatal ultrasonic manifestations of 17q12 microdeletion syndrome ,so as to provide help for prenatal diagnosis . Methods It carried out a retrospective analysis of 21 cases of 17q12 microdeletion syndrome prenatally confirmed by chromosomal microarray analysis(CMA) in the third affiliated hospital of Zhengzhou University from 2015 .01 to 2018 .05 . Prenatal ultrasound findings were collected . A close follow-up was given for the cases . Results Of the 21 fetus ,20 cases were presented with bilateral hyperechogenic kidneys ,and 1 case showed duodenal obstruction . There were 4 cases accompanied with polyhydramnios ,8 cases with mild polyhydramnio ,and 9 cases with normal amniotic fluid index . Parents of 6 fetus underwent chromosomal examination ,of which 2 cases were inherited from the mother and 4 cases had new chromosomal mutations;Seven cases had a family history of diabetes and 3 cases had a family history of kidney disease;Twelve cases performed induced labor ,2 cases lost follow-up and 1 case was unborn . Six cases were born ,of the 6 cases ,1 case associated with mild dysmorphic facial features , and 1 case associated with bilateral renal cysts . Conclusions 17q12 microdeletion syndrome has specific prenatal ultrasound characteristics ,while echogenic kidneys are of great value in the diagnosis of 17q12 microdeletion syndrome prenatally .

Objective:To explore prenatal ultrasound diagnostic clues of congenital dislocation of the knee(CDK).Methods:The prenatal ultrasonographic features of 13 CDK fetuses diagnosed from January 2013 to December 2018 in the Third Affiliated Hospital of Zhengzhou University were retrospectively analyzed, combined with the results of gene detections and pathological findings.Results:Thirteen fetuses were diagnosed by prenatal ultrasound during the second trimester. Two-dimensional and three-dimensional ultrasound showed dislocation of the knee(unilateral in 3 cases and bilateral in 10 cases). All cases were accompanied with multiple abnormalities, including talipes(5 cases), overlapping fingers(2 cases), short nasal bone(1 case), thicken nuchal fold(1 case), narrow thorax(1 case), abnormal vertebral development(1 case), etc. Ultrasound diagnosis included Larsen syndrome in 2 cases, arthrogryosis multiplex congenital in 3 cases, asphyxiating thoracic dysplasia in 1 case, and congenital dislocation of the knee in 7 cases. CDK was confirmed in all fetuses after termination of pregnancy. Three of them were known to undergo chromosome examinations with normal chromosomal microarray analysis (CMA). One case was confirmed to be Larsen syndrome by further second-generation sequencing combined with first-generation sequencing screening, suggesting there was FLNB gene mutation.Conclusions:CDK can exist isolated, and it can also be a common manifestation of various diseases. Therefore, attention should be paid to other associated abnormalities in the prenatal detection of knee flexion, and further detection of related genes can provide valuable information for genetic counseling.

Objective:To evaluate the value of mitral annulus displacement(TMAD) measured by two-dimensional speckle tracking imaging in evaluating left ventricular(LV) systolic function before and after immunoglobulin(IVIG) treatment in children with Kawasaki disease(KD).Methods:Thirty-five hospitalized children with acute KD(KD group) and 40 healthy volunteers(control group)were enrolled from September 2020 to March 2021 in the Third Affiliated Hospital of Zhengzhou University. All participants underwent echocardiography.Left ventricular ejection fraction(LVEF) and left ventricular short axis shortening(LVFS) were calculated from M-mode echocardiography. All children had their apical four-chamber and two-chamber view recorded and stored in real time, and the images of the KD group were recorded in the acute, subacute and convalescent stages, respectively. The data was analyzed by QLab 13.0 offline quantitative analysis software. The TMAD parameters between the KD group and the control group were compared. And the TMAD parameters at different periods in the KD group were compared. Pearson correlation analysis was conducted to evaluate associations between TMAD parameters and LVEF and N-terminal B-type natriuretic peptide(NT-proBNP) in children with acute KD.Results:①The parameters of TMAD AP4 MV1, TMAD AP4 MV2, TMAD AP2 MV1, TMAD AP2 MV2, TMAD AP4 Midpt, TMAD AP4 Midpt%, TMAD AP2 Midpt and TMAD AP2 Midpt% were decreased in patients with KD at different periods than those of the control group(all P<0.05), while there was no significant difference in LVEF between the two groups( P>0.05). ②After IVIG treatment, the values of TMAD AP4 MV1, TMAD AP4 MV2, TMAD AP2 MV1, TMAD AP2 MV2, TMAD AP4 Midpt, TMAD AP4 Midpt%, TMAD AP2 Midpt and TMAD AP2 Midpt% in subacute stage of KD were higher than those in acute stage(all P<0.05), the values of TMAD AP4 Midpt% and TMAD AP2 Midpt% in the convalescent stage of KD were higher than those in the subacute stage(all P<0.05). ③The parameters of TMAD were positively correlated with LVEF( r=0.36, 0.40, 0.32, 0.28, 0.42, 0.46, 0.35, 0.37; all P<0.05) and negatively correlated with NT-proBNP( r=-0.61, -0.57, -0.40, -0.60, -0.63, -0.47, -0.61, -0.36; all P<0.05). Conclusions:TMAD measured by two-dimensional speckle tracking imaging can quickly and accurately evaluate left ventricular systolic function in children with KD before and after IVIG treatment, and TMAD combined with NT-proBNP can provide a new method for clinical management of KD.

Purpose To explore the difference of prenatal ultrasound in the diagnosis of absence of nasal bone and short nasal bone in fetuses.Materials and Methods The clinical data of 23 131 pregnant women who received prenatal ultrasound system screening in the second trimester in the Third Affiliated Hospital of Zhengzhou University from August 2015 to July 2016 were analyzed retrospectively.The fetuses with absence of nasal bone and short nasal bone as well as the types of complicated malformation were recorded respectively,among whom those with chromosomal examination had their chromosomal results recorded.The fetuses were grouped for analysis based on absence of nasal bone,short nasal bone and whether they were complicated with malformation.Results Sixtynine fetuses had abnormal development of nasal bone,among whom 24 cases had absence of nasal bone (7 cases were complicated with malformation) and 45 cases had short nasal bone (13 cases were complicated with malformation),but there was no significant difference in the ratio of complicated malformation between fetuses with absence of nasal bone and those with short nasal bone (P＞0.05).Of the 41 cases with analysis of chromosomal karyotypes,32 cases had single abnormal development of nasal bone (4 cases had chromosomal abnormality) and 9 cases had abnormal development complicated malformation of nasal bone (7 cases had chromosomal abnormality),and the occurrence rate of chromosomal abnormality in abnormal development complicated malformation of nasal bone was notably higher than that in single abnormal development of nasal bone (P＜0.05).A total of 32 fetuses with single abnormal development of nasal bone received chromosomal examination,among whom 4 cases had chromosomal abnormality.Of the 32 fetuses,9 cases had single absence of nasal bone (one had chromosomal abnormality) and 23 cases had single short nasal bone (3 cases had chromosomal abnormality).However,there was no significant difference in the ratio of chromosomal abnormality between fetuses with single absence of nasal bone and those with single short nasal bone (P＞0.05).Conclusion Abnormal development complicated with malformation of nasal bone is of great significance in the evaluation of chromosomes.And there is no significant difference in the ratios of complicated malformation and chromosomal abnormality between fetuses with absence of nasal bone and those with short nasal bone.

Objective To explore the ultrasonographic features ,diagnostic clues and methods of fetal aortic arch anomalies ,and to improve the diagnosis rate of prenatal ultrasonography for fetal aortic arch anomalies . Methods Fetuses with aortic arch anomalies diagnosed by prenatal ultrasound were selected as the study objects . The prenatal ultrasonographic features of the three views of the aortic arch were carefully observed . The three views included the followings :the transverse view ( the view of three vessels and trachea) ,the sagittal view ( the longitudinal view of the aortic arch) ,and the coronal view ( the coronal view of the descending aorta) . The prenatal diagnostic clues and diagnostic techniques of aortic arch anomalies were summarized and analyzed . Results Eighty-one cases with aortic arch anomalies were followed up . Fifteen cases were left-sided aortic arch and left-sided ductus arteriosus with aberrant right subclavian artery ,22 cases with right aortic arch and left-sided ductus arteriosus with aberrant left subclavian artery ,4 cases were mirror right aortic arch and left-sided ductus arteriosus ,2 cases were mirror right aortic arch and right-sided ductus arteriosus ,11 cases were double aortic arch ,23 cases were coarctation of the aorta ,and 4 cases were interruption of aortic arch . Among them ,27 cases were complicated with other cardiac and extra-cardiac malformations and 13 cases with chromosomal abnormalities . Prenatal ultrasonographic clues for diagnosis of coarctation of the aorta included the three vessels and trachea view showing small diameter and disproportion to the diameter of the ductus arteriosus . And the longitudinal view of the aortic arch was helpful for showing the position and the extent of coarctation of the aorta . Prenatal ultrasonographic clues for diagnosis of interruption of aortic arch were that the three vessels and trachea view and the longitudinal view of the aortic arch showed the interruption between aortic arch and descending aorta . And the abnormal combination cases of the aortic arch segments also had their corresponding diagnostic clues . These clues included that the three vessels and trachea view showed abnormal position ,arrangement and running of the branches of the aortic arch . And the coronal view of the descending aorta also showed abnormal changes in the branches of aortic arch . Conclusions Various types of congenital aortic arch anomalies have characteristic ultrasonography and their corresponding diagnostic clues and methods . The combined use of the three views of the aortic arch is effective in prenatal diagnosis for aortic arch anomalies .