Objective To detect the development of fetal nasal bone with ultrasound scan in the second and third trimester, and to evaluate the value of fetal nasal bone hypoplasia in diagnosing fetal chromosomal abnormalities. Methods Prenatal ultrasound examination was performed in 1415 normal fetuses. The nasal bone length (NBL) and the nasal bone angle (NBA) were measured on the mid-sagittal plane. The karyotype of the cases with nasal bone abnormality was analyzed. Results The fetal nasal bone was successfully detected with two-dimensional ultrasonography in 95% of the subjects. The NBL increased with the gestational age while the NBA kept unchanged with the average value of 54. 4?(44. 4?-69. 2?). Forty-two cases with nasal bone hypoplasia were diagnosed prenatally including nasal bone defect (20 cases), small NBA (15 cases), short nasal bone (4 cases) and short nasal bone with small NBA (3 cases). Cordocentesis was performed in 21 cases among which 12 with abnormal karyotype, including 3 cases of trisomy 21, 3 cases of trisomy 13, 4 cases of trisomy 18 and 3 other chromosomal abnormalities. Conclusions Fetal nasal bone hypoplasia was closely related to the chromosomal abnormalities. The evaluation of fetal nasal bone with prenatal sonography is an important criteria for screening fetal chromosome abnormalities during the mid-trimester.

Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined.

Objective To investigate the clinic value of ultrasonographic fetal nasal bone examination as a screening marker for Down syndrome(DS).Methods The study was conducted in the First Affiliated Hospital of Sun Yat-sen University from Oct 2004 to Mar 2007.Two-dimensional ultrasound was used to assess the fetal nasal bone of 1863 normal pregnancies(normal group)and 25 cases with DS fetus (study group)during their second and third trimesters.The incidence of nasal bone absence or short nasal bone in two groups was determined.The fetal nasal bone absence should be confirmed in three orthogonal planes of the fetal face.and the short nasal bone included the cases that the fetal nasal bone was shorter than the 2.5th percentile of normal according to the gestational week.The diagnostic test index was used for assessing the value of fetal nasal bone abnormality as a marker in prenatal screening for DS.Results (1)1761 fetuses of normal group were successfully examined for the nasal bone and the detection rate was 94.5%(1761/1863).102 fetuses failed examination because of inconvenient intra-uterine position.(2)The nasal bone length grew in a linear fashion throughout pregnancy and the growth pattern correlated well with gestational age(r=0.605,P＜0.05)in normal group.The nasal bone was absent in 3 normal fetuses (0.2%,3/1761)and short nasal bone was found in 44 normal fetuses(2.5%,44/1761).(3)The nasal bone was absent in 7 DS fetuses(28.0%.7/25)and short nasal bone was found in 15 DS fetuses (60.0%.15/25).(4)When the absence of nasal bone was used as a cut-off,the sensitivity for DS was 28.0%.the specificity was 99.8%,the positive likelihood ratio was 164.45(95%CI:45.11-599.60),and the negative likelihood ratio was 0.72(95%CI:0.57-O.92).When short nasal bone was used as a cut-off.the sensitivity was 60.O%,specificity was 97.5%.the positive likelihood ratio was 24.03(95%CI:7.15-80.71),and the negative likelihood ratio was 0.41(95%CI:0.29-0.59).Conclusion Fetal nasal bone hypoplasia at the second and third trimester scan is associated with a high risk for Down syndrome and it can be used as a screen marker for this chromosomal abnormality.

Objective To report a case of pulmonary alveolar microlithiasis ( PAM) in Peking Union Medical Col-lege Hospital and to summarize the clinical features and genetic characters .Methods The clinical features , ima-ging results , pathology findings and SLC34 A2 gene mutation was analyzed and reported .Results The patient was a 35 years old male, presenting with cough and sputum for 10 years and worsen with short of breath for 3 weeks. Computed tomography of lung and pathology findings support the diagnose of pulmonary alveolar microlithiasis .And a heterozygous mutation c .A910 T in exon 8 of SLE34 A2 gene was discovered through genetic testing .Conclusions Since to the treatment is non-specific in this rare disease , it's significantly important to recognize this disease through early non-specific clinical features but typical imaging findings .And the finding that c .A910 T is more common in Asia population may provide us a potential target for screening and possible genetic engineering therapy .

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.

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.

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.

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

Objective To investigate the clinical characteristics and emergency management of severe hand-foot-mouth disease(HFMD)associated with encephalitis and neurogenic pulmonary edema(NPE)caused by en-terovirus 71(EV71)in children.Method Data of critical patients with severe HFMD associated with encephalitis and NPE admitted to pediatric intensive care unit(PICU)Fuyan city Hospitals Anhni Province from May to June 2008 were reviewed.Results Of 30 patients,the mean age was 15.8 months ranged from 4 months to 48 months.The overall morality was 19.4%.Tha average duration of critical symptoms persisted Was 2.1 days ranged from 12 hours to 5 days.There were no rash found in 12 patients(33.3%).The chinical features of nervous system mani-fested the symptoms of brainstem encephalitis in 27 patients(75%),brainstem encephalitis with myelitis in 6 pa-tients(16.7%),and encephalitis in 3 patients(8.3%).The frothy expectoration tinged with pink or bloody,asyrmmetrical pulmonary edema or hemoptysis were the main features of NPE.The main approaches to the treatment were mechanical ventilation,mannitol,methylpredifiselone,intravenous immunoglobulin(IVIG),and vasoactive a-gents.And nine patients(25%)needed fluid volume resuscitation in addition.Conclusions Young children are particularly vulnerable to the Severe EV71 encephalitis with NPE.The majority of involved fatal patients are aged under 3 years.Patients may die of acute onset of NPE and/or hemoptysis with rapid progress towards cardiopul-monary failure.Early diagnosis and evaluation,respiratory support,lowering intracranial pressure and maintaining hemodynamics ale the essential therapeutic approaches.

PURPOSE: This study aimed to evaluate the diagnostic value of SonoLiver software for parametric imaging in breast tumors. METHODS: Contrast-enhanced ultrasound (CEUS) was performed in 216 breast lesions (113 malignant, 103 benign). The CEUS parameters were compared between benign and malignant lesions. The rise time, the time to peak, the mean transit time and dynamic vessel pattern (DVP) were analyzed using SonoLiver software. RESULTS: Quantitative analysis showed that the rise time was 16.52+/-4.15 seconds in the benign group vs. 13.86+/-3.36 seconds in the malignant group (p=0.007), and the time to peak was 19.86+/-4.87 seconds in the benign group vs. 16.52+/-4.85 seconds in the malignant group (p=0.009). The mean transit time was 80.55+/-18.65 seconds in the benign group vs. 65.16+/-20.28 seconds in the malignant group (p=0.006). The difference between the distribution of DVP in benign and malignant tumors was statistically significant. One hundred one malignant tumors (89.4%) performed an irregular red/yellow fill in the region of interest (ROI) and 85 benign tumors (82.5%) performed a single blue/green fill in the ROI. The sensitivity, specificity, and accuracy of parametric imaging in breast tumors were 84.1%, 85.4%, 84.7%, respectively. CONCLUSION: The CEUS parametric imaging can distinguish differences between malignant and benign breast tumors as well as provide diagnostic information on breast lesions.
Breast ; Breast Neoplasms ; Contrast Media ; Glycosaminoglycans ; Sensitivity and Specificity