Objective To evaluate prenatal sonograpic findings and clinical value in fetus with congenital portal-hepatic venous shunt.Methods The prenatal ultrasonographic characteristic of ten cases of congenital portal-hepatic venous shunt were analyzed and summarized.Results Three cases had portal vein-left hepatic venous shunt,two cases with portal vein-right hepatic venous shunt,two cases with situs inversus of left right portal vein,and three cases with multiple shunt among portal and hepatic veins.All the 10 cases with portal-hepatic venous shunt had common sonographic features,①Two-dimensional ultrasound revealed the distal hepatic veins.The hepatic vein and portal vein were both visualized on the same plane and connected by an anechoic area.②Vascular signal were noted inside the anechoic area.③Blood flow inside the anechoic area demonstrated by spectral Doppler was similar to that of the portal vein.Conclusions Prental ultrasonography is valuable in the diagnosis of fetal portal-hepatic venous shunt.

Objective To evaluate the ultrasonic feature and clinical significance of persistent left superior vena cava(PLSVC)in fetal life.Methods Fetal echocardiography was performed in 3368 fetuses.Thirty-one fetuses of PLSVC were confirmed.Results The dilated coronary sinus was observed in 30 of 31 fetuses.Congenital heart defects were presented in 14 of these cases,and extracardiac anomalies were presented in 6 fetuses.Both congenital heart defects and extracardiac anomalies were observed in 4 fetuses.Conclusions PLSVC is always associated with congenital heart defects.The prognosis Of affected fetuses largely depends on whether or not the PLSVC is associated with a congenital heart defect.Prenatal diagnosis of PLSVC can help US plan perinatal counseling and ameliorate the postnatal course.

Objective To assess the reproducibility of vascularization measurement in cervical carcinoma using transvaginal three-dimensional power Doppler angiography (3D-PDA) with virtualorgan computer-aided analysis ( VOCAL), and compare the reproducibility of two different contour mode (manual and automatic mode) of VOCAL. Methods Eighty patients with cervical carcinoma were examined by observer 1 using transvaginal 3D-PDA. The two acquired volume datasets were analyzed using manual and sphere automatic contour mode of the VOCAL imaging program for assessing carcinoma vascularization index( VI), flow index(FI), and vascularization flow index(VFI). Forty patients of them were examined randomly by observer 2 by the same method. Reproducibility of vascularity measurement was assessed by calculating intraclass (intra-CC) and interclass (inter-CC) , limits of agreement, 95% confidence interval definition. The contribution of various factors (examiner, measurement, contour mode and patient) to intrasubject variance was estimated using different analysis of variance models (ANOVA). Results For intraobserver,manual contour mode was more valid than sphere automatic contour mode for each observer (0. 92～0. 99 vs 0. 75～0. 94) ,and it also had smaller standard deviation,narrower limit of agreement range, 95% confidence interval and higher intra-cc than those of sphere automatic contour mode. Interobserver agreement of manual contour vascular measurements was similar to the intraobserver agreement for manual contour vascular measurements ( 0. 89 ～ 0. 97 vs 0. 92 ～ 0. 99 ) , but interobserver agreement for sphere automatic contour vascular measurements dramatically reduced (0. 52～0. 72). Conclusions Manual contour mode for 3D-PDA vascular measurement has better reproduciblity than sphere automatic contour mode, especially useful for irregular shape tissue.

Objective: To evaluate the clinical value of color Doppler signal at the nasal lip in the diagnosis of fetal cleft palate. Methods: Twenty fetuses diagnosed with fetal cleft lip and cleft palate by targeted ultrasonography and magnetic resonance imaging were enrolled in this study. Color Doppler was used during each ultrasound scan. All prenatal diagnoses were confirmed either by postnatal follow-up or autopsy. The location and degree of cleft lip and palate was also recorded. During inspiration or swallowing color signal acrossed the defects at the fetal palate was indicated cleft palate, and no color signal acrossed the defects at the fetal palate was indicated without cleft palate. Two dimensional ultrasound combined with color Doppler was used to diagnose cleft lip and palate in midsagittal plane or paratsagittal plane, then compared with the results of post-natal evaluation or abortion, and the value of color signal at the nasal lip in the diagnosis of fetal cleft palate was analyzed. Results: Twenty cases of postpartum fetus (including post-natal evaluation or abortion ) confirmed 15 cases of cleft lip and palate, 5 cases of cleft lip (2 cases with upper alveolar cleft). For prenatal diagnosis, 5 cases of cleft lip and 15 cases of cleft lip and palate were diagnosed by two-dimensional ultrasound, of which 3 cases of cleft lip and palate were misdiagnosed as cleft lip, whereas 3 cases of cleft lip were misdiagnosed as cleft lip and palate with 2 cases combined with upper alveolar cleft. Two-dimensional ultrasound in the diagnosis of cleft lip and palate is consistent with postnatal results by additional evaluation of the color signal in nasolabial area in median sagittal section. In the cleft lip and cleft lip with the alveolar cleft fetuses, the color signal in nasolabial area was undetectable during fetal respiratory-like movement or swallowing by ultrasound.However, it was detectable in cleft lip and palate fetuses. A total of 3 cases of simple cleft lip and 17 cases of cleft lip and palate were detected by magnetic resonance imaging(MRI). In 2 cases of cleft lip and palate diagnosed by MRI, no blood flow signal was detected at the nasolabial area. Conclusions The connected color signal in nasolabial area assessed by color Doppler ultrasound during fetal respiratory-like movement or swallowing showed an promising value for prenatal diagnosis of cleft palate. Cleft palate could be ruled out if the connected color signal was undetectable in nasolabial area.

Objective To evaluate the clinical value of color Doppler signal at the nasal lip in the diagnosis of fetal cleft palate . Methods Twenty fetuses diagnosed with fetal cleft lip and cleft palate by targeted ultrasonography and magnetic resonance imaging were enrolled in this study . Color Doppler was used during each ultrasound scan . All prenatal diagnoses were confirmed either by postnatal follow‐up or autopsy . T he location and degree of cleft lip and palate was also recorded . During inspiration or swallowing color signal acrossed the defects at the fetal palate was indicated cleft palate ,and no color signal acrossed the defects at the fetal palate was indicated without cleft palate . T wo dimensional ultrasound combined with color Doppler was used to diagnose cleft lip and palate in midsagittal plane or paratsagittal plane ,then compared with the results of post‐natal evaluation or abortion ,and the value of color signal at the nasal lip in the diagnosis of fetal cleft palate was analyzed . Results Twenty cases of postpartum fetus ( including post‐natal evaluation or abortion ) confirmed 15 cases of cleft lip and palate ,5 cases of cleft lip ( 2 cases with upper alveolar cleft) . For prenatal diagnosis ,5 cases of cleft lip and 15 cases of cleft lip and palate were diagnosed by two‐dimensional ultrasound ,of which 3 cases of cleft lip and palate were misdiagnosed as cleft lip ,w hereas 3 cases of cleft lip were misdiagnosed as cleft lip and palate with 2 cases combined with upper alveolar cleft . T wo‐dimensional ultrasound in the diagnosis of cleft lip and palate is consistent with postnatal results by additional evaluation of the color signal in nasolabial area in median sagittal section . In the cleft lip and cleft lip with the alveolar cleft fetuses ,the color signal in nasolabial area was undetectable during fetal respiratory‐like movement or swallowing by ultrasound .However ,it was detectable in cleft lip and palate fetuses . A total of 3 cases of simple cleft lip and 17 cases of cleft lip and palate were detected by magnetic resonance imaging( M RI) . In 2 cases of cleft lip and palate diagnosed by M RI ,no blood flow signal was detected at the nasolabial area . Conclusions The connected color signal in nasolabial area assessed by color Doppler ultrasound during fetal respiratory‐like movement or swallowing showed an promising value for prenatal diagnosis of cleft palate . Cleft palate could be ruled out if the connected color signal was undetectable in nasolabial area .

OBJECTIVE: To analyze clinical and genetic features of a family affected with Van der Woude syndrome. METHODS: The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis. RESULTS: The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of gene in the proband, his father and his grandmother.The mutation was not found in other family members. CONCLUSIONS A missense c.263A>G (p.N88S) mutation in gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.
Abnormalities, Multiple ; genetics ; China ; Cleft Lip ; complications ; diagnostic imaging ; etiology ; genetics ; Cleft Palate ; complications ; diagnostic imaging ; etiology ; genetics ; Cysts ; complications ; genetics ; Female ; Humans ; Interferon Regulatory Factors ; genetics ; Lip ; abnormalities ; Male ; Mutation ; Pedigree ; Ultrasonography