Objective:To evaluate the placental micro-vascular circulation by microvascular flowing imaging (MVFI) method, and to explore the clinical value of microvascular index (MVI) for the diagnosis of fetal growth restriction (FGR).Methods:A total of 21 fetuses at 24-34 weeks of gestation at the Peking Union Medical College Hospital from October to November 2019 were enrolled in this study, including 7 fetal growth restriction (FGR) fetuses, and 14 normal fetuses as control group. The fetuses of the two groups were matched according to the gestational weeks at the ratio of 1∶2. Fetal biometry parameters were measured and the placenta was observed by two-dimensional ultrasound.Uterine artery pulse index (UtA-PI), middle cerebral artery pulse index (MCA-PI), and umbilical artery S/D ratio were evaluated by color and pulse-wave Doppler. The placenta mico-circulation was displayed by the MVFI method and MVI was measured.Results:The study included 14 normal fetuses and 7 FGR fetuses. Compared with the control group, more placenta in the FGR group manifested as thickened and heterogeneous with decreased MVI and increased UtA-PI. There was statistically significant difference in placental mean MVI between two groups ( P=0.044). Besides, a trend towards significant negative correlation was observed between MVI and placenta thickness, although this was not statistically significant ( rs=-0.35, P=0.065). MVI had a higher specificity (100%) in the prediction of FGR. Conclusions:MVFI can display the micro-circulation of the placenta, and provide a direct and quantitative assessment method for placental perfusion.

Objective To determine the fetal facial angles at 11 －38 weeks of gestation by three‐dimensional ultrasound ( 3DUS) and analyze the correlation between facial angles and gestational age( GA ) . Methods From 2013 April to 2014 February ,439 singleton fetuses ranged 11－38 weeks of gestation were enrolled in this study . T he details of mid‐sagittal plane of facial profile was confirmed with 3DUS . Four facial angels were measured in this plane ,including frontomaxillary facial angle ( FM F ) ,frontonasal angle ( FNA ) ,mandibulomaxillary facial angle( M M F) and maxilla‐nasion‐mandible angle( M NM ) . T he intra‐and interobserver reliability were calculated in first 30 cases ,intra‐class correlation coefficient( ICC) greater than 0 .75 indicated good reliability . Pearson′s correlation coefficient ( r ) ,curve estimation and polynomial regression models were used to evaluate the correlation of the fetal facial angles with GA . Results ICC of the same observer were 0 .968 ,0 .962 ,0 .974 and 0 .988 ,respectively . ICC of different observer were 0 .948 , 0 .905 ,0 .874 and 0 .889 ,respectively . T he fetal facial angles of FM F ,FNA ,M M F and M NM showed correlations with GA ( r ＝ －0 .369 ,0 .447 ,－0 .470 ,0 .386 ; all P ＝0 .000) . Using GA as the independent variable and the facial angles as the dependent variables , the best fit regressing equation was cubic polynomial :FM F＝135 .300－6 .473×GA+0 .235×GA2 －0 .003×GA3 ( R2 ＝0 .240 , P ＝0 .000 ) ;FNA＝58 .920+7 .452×GA －0 .274×GA2 －0 .003×GA3 ( R2 ＝0 .297 , P ＝0 .000 ) ;M M F＝132 .329 －5 .337× GA+0 .191× GA2 －0 .002× GA3 ( R2 ＝ 0 .304 , P ＝ 0 .000) ;M NM ＝ －24 .592+ 4 .653× GA －0 .173× GA2 + 0 .002 × GA3 ( R2 ＝ 0 .413 , P ＝ 0 .000 ) . Conclusions The development of fetal facial angles are related to GA . T he growing patterns of fetal facial angles fit with a cubic polynomial function .

To investigate the prenatal sonographic feature in the early diagnosis of amniotic band syndrome at 11 －14 weeks′ gestation . Methods A retrospective study was conducted to analysis and summarize the ultrasonographic features of 4 fetuses without band‐like echoes in amniotic cavity at 11－14 weeks′gestation ,but verified as amniotic band syndrome in Peking Union M edical College Hospital . Results T wo cases ( cases 1 ,2) showed the fixed head position with skull defect and intracranial structure disorders . Cases 3 and 4 showed one upper limb in a fixed position ,and the hand seemed to adhere to the umbilical cord isolatedly . In addition ,case 1 showed complete chorioamniotic membrane separation . T here were multiple band‐like echoes adhered to body of 3 fetals during the follow‐up scan at 14 －18 weeks . T he parents of cases 1 and 2 chose to terminate the pregnancy after counseling ,the other 2 cases also induced labor due to intrauterine fetal death at 15+2 weeks and 19+2 weeks respectively . All 4 cases were confirmed as amniotic band syndrome by pathology . Conclusions When the fetal sonographic images showed fixed head position ,disordered intracranial structure ,or adhesion between umbilical cord and hand with limited movement at 11 －14 weeks′ gestation ,it should be paid attention to observing the band‐like echoes and followed up closely to prevent missed diagnosis of amniotic band syndrome .

Objective To investigate the prenatal diagnosis and genetic counseling of fetal nuchal fold (NF) thickening.Methods This study retrospectively analyzed 17 fetuses with increased NF detected by prenatal ultrasound examination in Peking Union Medical College Hospital,Peking Union Medical College & Chinese Academy of Medical Sciences from December 1,2016 to December 1,2017.All cases were divided into isolated (isolated group) or non-isolated increased NF group (non-isolated group) according to whether the fetus had concomitant ultrasonographic abnormalities or not.Karyotype and chromosomal microarray analysis (CMA) were performed on all cases.Clinical data,prenatal genetic testing results and pregnancy outcomes were analyzed.Results Of those twelve cases in the isolated group,two were terminated due to the identification of chromosomal abnormalities and pathogenic copy number variations (CNVs) and the fetal autopsy results were consistent with the prenatal diagnosis.The rest 10 pregnancies were all continued including one fetus carrying a variant of unknown significance,which was proved to be a paternal heredity by CMA,and nine without genetic abnormalities and all-these infants were healthy during follow-up.Among the five non-isolated cases,one was diagnosed as trisomy 21 by karyotyping and CMA,and the other four were found to have structural abnormalities under ultrasound scan,but without genetic abnormalities in karyotyping and CMA.And all the five pregnancies were terminated after genetic counseling and three of them chose whole exome sequencing (WES) for further test.One homozygous mutation in CHRNA 1 gene and one de novo mutation in SETD2 gene were found in two cases,respectively,while no abnormality was identified in the other one case.Conclusions Once increased NF were indicated by ultrasound examination,prenatal genetic testing should be offered to the patients,including CMA,regardless of other ultrasonographic abnormalities,and WES should also be offered when necessary.Considering a thickened NF is associated with increased risks of structural defects,a close follow-up with fetal echocardiography and ultrasound is required even the prenatal tests are normal.

Objective To explore the application value of ultrasound medical imaging workstation in quality control of ultrasound reports issued by resident doctors.Methods The pancreatic ultrasound reports of outpatients provided by resident doctors with 6 months and 12 months of training were derived from the ultrasound medical imaging workstation as 6-month group (G6M) and 12-month group (G12M),respectively.There were 1582 ultrasound reports in the G6M,including 420 for males and 962 for females,with 1318 for patients ＜ 65 years old and 264 for patients ≥ 65 years old.There were 2723 ultrasound reports in the G12M,including for 760 males and 1963 for females,with 2323 for patients ＜ 65 years old and 400 for patients ≥ 65 years old.Frequency of"unclear tail of the pancreas" in the report,standard image,and body markers were recorded.The chi-square test was used to compare patient gender,age,and the quality of resident reports between the two groups.Results The chi-square test showed that there was no significant difference in sex or age composition between the two groups (all P ＞ 0.05).The number of cases of"unclear tail of the pancreas" reported in the G6M and G12M was 554 (35.02％) and 734 (26.96％),respectively,and there was a statistical difference between the two groups (x2=31.029,P ＜ 0.001).In the reports with "unclear tail of the pancreas",the number of reports with "no map" was 8 (1.44％) and 14 (1.91％) in the G6M and G12M,respectively,and there was no significant difference between the two groups (P ＞ 0.05).As to "map without marker" and "map with marker",there were 337 (60.83％) vs 209 (37.73％) and 308 (41.96％) vs 412 (56.13％) in the G6M and G12M,respectively,and the chi-square test showed that there were significant differences between the two groups (x2=44.960 and 42.834,all P ＜ 0.001).Conclusion Ultrasound medical imaging workstation can be used for periodic spot check,evaluation,and feedback of resident reports,which has a positive role in promoting the quality control of ultrasound reports.

Objective: To explore the value of prenatal ultrasound in diagnosis of congenital dacryocystocele. Methods: The ultrasonographic features of 16 fetuses with congenital dacryocystocele were retrospectively reviewed and the outcome of pregnancy were followed up. Results: The median gestational week detected with prenatal ultrasound was 30.29 weeks, the mean diameter was (8.96±1.96)mm. Congenital dacryocystoceles were unilateral in 12 fetuses and bilateral in 4 fetuses, 10 were female and 6 were male. The typical ultrasonic feature was anechoic cystic mass with clear boundary in relation to the medial and inferior aspects of the fetal orbit. The dacryocystocele resolved spontaneously prenatally in 5 fetuses, resolved spontaneously after delivery in 10 fetuses. One fetus died in caesarean section due to complete placenta previa. Conclusions Congenital dacryocystitis has its characteristic ultrasonographic features, and most cases can disappear naturally in prenatal or early newborns.

Objective To investigate the sonographic diagnosis and genetic counseling of fetal cardiac rhabdomyoma.Methods Four cases of fetal cardiac rhabdomyoma diagnosed at Peking Union Medical College Hospital from August 2016 to January 2017 were enrolled in this retrospective study.The results of ultrasound,other image modalities,genetic testing,and pregnancy outcomes were analyzed.Results In all fetuses echogenic solid masses were observed in the ventricles,which were single in 2 cases and multiple in the other two cases.In two fetuses no extracardiac anomalies were identified,and in another two tuberous sclerosis was diagnosed based on the clinical features including renal cyst in one case and intracranial tubers on ultrasound and MRI in another case.There was negative family history for genetic diseases in all cases except one.After counseling,all parents opted for pregnancy termination.Autopsy was performed in 3 cases,in whom characteristic cardiac rhabdomyomas were found in left ventricle.Microscopic examination of one case showed cysts arising from tubules in both kidneys.In another case mutilple tubers were observed on the trunk.Conclusions Cardiac rhabdomyomas are characteristic on prenatal ultrasound.Targeted screening based on ultrasound and family history are helpful for the early diagnosis of tuberous sclerosis.Genetic testing should be considered in suspected cases.

Objective To evaluate the fetal profile (FP) line with two-dimensional and three dimensional ultrasound, to explore the changes of fetal facial profile with gestational age,and to analyze the manifestation of FP line for abnormal chromosomal fetuses. Methods FP line, which was defined as the line that passes through the anterior border of mandible and the nasion, was test on the facial mid-sagittal plane. Firstly, from April 2013 to January 2014, FP line was analyzed in 439 normal fetuses of Peking Union Medical College Hospital at 11-38 weeks of gestation. According to the relationship between FP line and fetal frontal bone,it was divided into three types: the FP line passed anteriorly, across or posteriorly to the frontal bone, respectively. When the FP line passed posteriorly to the frontal bone, the distance (F distance) between the FP line with the frontal bone was measured. Secondly, 26 pathological fetuses (21 trisomy 21 fetuses with 13-33 weeks' gestation and 5 trisomy 18 fetuses with 21-31 weeks' gestation) were analyzed respectively. Results No cases with a FP line passed anteriorly to the frontal bone were found in all of normal fetuses. Most commonly seen was that FP line passed across to the frontal bone (92.26%). The FP line passed posteriorly to the frontal bone in up to 7.74%, and the mean F distance was 0.24 cm (range, 0.10-0.51 cm). In 21 fetuses of trisomy 21, 14 cases showed the FP line passed across to frontal bone, and 4 cases showed the FP line passed posteriorly frontal bone with the F distance from 0.23 cm to 0.55 cm. Three cases with sloping forehead with FP line passed anteriroly to frontal bone. As to 5 cases of trisomy 18, 2 cases showed FP line passed across to frontal bone, and 3 cases with micrognathia had FP line passed anteriroly to frontal bone. Conclusions No cases with a FP line passed anteriorly to the frontal bone were found in normal fetuses. The FP line, as a reference line for forehead and mandible abnormality, may be a useful tool to detect second trimester profile abnormalities such as sloping forehead and retrognathia.

Objective To report a pedigree with X?linked dominant protoporphyria(XLDPP), and to detect 5?aminolevulinic acid synthetase 2(ALAS2)gene mutations in this pedigree. Methods A clinical investigation was performed in a pedigree with XLDPP, and relevant data were collected from family members. A next?generation sequencing method was applied to screen possible mutation sites, and Sanger sequencing was performed to determine pathogenic gene mutations. Dermoscopy was conducted to observe skin lesions in the patients with XLDPP, and the Fotofinder system and very high frequency (VHF) ultrasound system were utilized to assess the severity of photodamage. Liver and gallbladder ultrasonography as well as blood examination were performed for all the family members. Results A deletion mutation, c.1706?1709ΔAGTG, was detected in the ALAS2 gene on the X chromosomes of all the patients in this family, which led to replacement or loss of 19-20 C?terminal residues through transcriptional frameshifting, and eventually caused an increase in ALAS2 activity. In the patients with XLDPP, skin photodamage was relatively severe;protoporphyrin?induced hepatobiliary damage was observed and aggravated with age;anemia and iron deficiency occurred sometimes. Conclusion The deletion mutation c.1706?1709ΔAGTG of the ALAS2 gene may be the underlying cause of XLDPP in this pedigree.

Objective The aim of the study was to determine the placenta volume (PV) at 11-13+6 weeks of gestation by three-dimensional ultrasound (3DUS) in combination with birth weight, placenta weight, placenta volume at birth and maternal age, body mass index (BMI) additionally. Methods From June 2011 to July 2012, placental volumes were prospectively measured by VOCAL (Virtual Organ Computer-aided Analysis) method in 129 normal pregnancies of Peking Union Medical College Hospital at 11-13+6 weeks of Gestation, multiples of the median was calculated (MOM) after logarithmic10 transformation referring to different crown-rump length (CRL) groups. The normal pregnancies were selected without any combinations or fetal abnormalities, then recorded the birth weights, placenta diameters and thicknesses and placenta weight at delivery. The maternal basic status was also concluded in the study. Results Correlation analysis results: (1) The transformed placenta volume MOM showed a significant correlation (Spearman rho=0.200, P<0.05) with birthweight but not with placenta weight or placenta volume calculated as ellipsoid (Spearman rho=0.164, 0.112 respectively, P>0.05). (2) The birthweight showed significant correlations with placenta weight, placecnta volume and maternal BMI (Spearman rho=0.478, 0.361, 0.259 respectively, P<0.01). (3) The placenta weight at birth showed a significant correlation with placenta volume at birth (Spearman rho=0.467, P<0.01) and maternal BMI (Spearman rho=0.198, P<0.05). Regression analysis results: (1) Birth weight (g)=1136.9+1530.9×MOM+45.3×BMI-15.0×maternal age (r=0.29, P=0.01<0.05). (2) Placenta weight (g)=88.1+315.3×MOM+10.0×BMI+0.1×maternal age (r=0.27, P=0.02 <0.05). Conclusions The placental volume at 11-13+6 weeks of gestation has significant correlation with birthweight. This might assist in the identification of the high risk pregnancies caring large or low for gestational age fetuses.