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 .

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 clinical application value of hippocampal volume (HV)measurement with MMSE score in varying different degrees cognitive impairment.Methods 30 Alzheimer’s disease(AD)patients,30 mild cognitive impairment (MCI)patients and 30 normal controls(NC)were recruited,HV was measured by Siemens Tim-avanto 3.0T super conductance magnetic resonance.Standardized HV and MMSE scores of three groups were comprehensive analyzed.Results The left and right sides and the total HV of AD group were lower than the MCI and the NC group,with significant differences by statistical analysis (P <0.05).The HV had no significant differences between the MCI and the NC group.The MMSE scores of AD group were lower than the MCI and the NC group,with significant differences by statistical analysis (P <0.05),the score had no significant differences between the MCI and the NC group.Conclusion HV measurement with MMSE score would be helpful to provide effective basis for the AD diagnosis,the sensitivity in the diagnosis of MCI is not high.

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.

Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
Biomedical Research ; methods ; trends ; Cockayne Syndrome ; genetics ; DNA Damage ; DNA Repair ; genetics ; Genetic Predisposition to Disease ; genetics ; Humans ; Skin ; metabolism ; pathology ; radiation effects ; Trichothiodystrophy Syndromes ; genetics ; Ultraviolet Rays ; Xeroderma Pigmentosum ; genetics

Objective To investigate the different memory outcomes in temporal lobe epilepsy patients underwent different surgical approaches.Methods Two hundred forty-eight patients with temporal lobe epilepsy and hippocampal scle-rosis underwent standard anterior temporal lobectomy ( ATL, n=83 ) or selective amygdalohippocampectomy ( SAH, n=165) from 2009 to 2013.All the patients underwent clinical memory function assessment before surgery, 3 months and 2 years after surgery respectively.Results The memory quotient ( MQ) of patients who underwent brain surgery in the domi-nant hemisphere significantly decreased 3 months after surgery (74.5 ±16.2, 75.6 ±19.5) compared to presurgery MQ (82.9 ±15.8, 83.2 ±21.2) in both ATL and SAH groups (P<0.05).Although MQ was slightly recovered at 2 years af-ter surgery, MQ (75.1 ±14.1, 76.1 ±17.6) was still significantly lower compared with presurgery MQ (P<0.05).A-mong this, both the decrease extent of the MQ 3 months after surgery and 2 years after surgery were smaller in the SAH group than in the ATL group (7.6 vs.8.4;7.1 vs.7.8).The MQ of patients who underwent brain surgery in the non-dominant hemisphere (either ATL or SAH ) increased slightly 3 months after surgery (87.2 ±15.1, 88.1 ±16.9) com-pared to presurgery MQ (85.5 ±13.5, 85.3 ±19.7) although the difference was not statistically significant.The MQ of these two groups improved significantly 2 years after surgery (92.8 ±12.7, 93.7 ±17.1)(P<0.05).The improvement extent of the MQ was larger in the SAH group than in the ATL group (8.4 vs.7.3).Conclusions SAH may be better than ATL in the maintenance of memory function in patients with temporal lobe epilepsy and hippocampal sclerosis.

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.

Objective To evaluate the ultrasonic characteristics of nasal bone absence at 16-34 weeks of pregnancy referring to fetal chromosomal anomalies. Methods The ultrasonic findings of the 20 fetuses with nasal bone absence at second or third trimester in Peking Union Medical College Hospital were reviewed referring to chromosomal karyotyping and labor induction or birth outcomes. Results The ultrasound features of the 20 fetuses including:(1) There were 17 fetuses showed bilateral nasal bones absence. The sonographic features were absence of hyper echo of nasal bone underneath the skin on either sagittal or transverse section. There were 5 fetuses showed multiple abnormalities:Four fetuses showed cardiac abnormalities (three showed atrioventricular septal defect, one showed ventricular septal defect, one showed ventricular septal defect with abnormal great vessels). One fetus showed duodenal obstruction′double bulbs′. The other minor abnormalities including short femur and humerus, increasing echogenetic bowels, aberrant right subclavian artery, mild unilateral ventriculomegaly, mild renal pelvic ectasia, outreached tongue, abnormal gestures of hands. (2) There were 3 fetuses showed unilateral nasal bone absence. The sonographic features were absence of hyper echo of either nasal bone on transverse section but with hyper echo on sagittal section. Two fetuses showed cardiac abnormalities (one fetus showed atrioventricular septal defect, one showed ventricular septal defect). The other minor abnormalities including short femur and humerus, hyper echogenetic bowels, increasing thickness of nuchal translucency or nuchal fold. Twelve fetuses were induced labor but only one had biopsy showed accordant result with ultrasound. (3) Karyotyping results:there were 9 of trisomy 21, 1 of 4p-and 7 of normal karyotype fetuses showed bilateral nasal bone absence. There were 2 of trisomy 21 and 1 of normal karyotype fetuses showed unilateral nasal bone absence. (4) Birth outcomes and follow-up:twelve fetuses induced labor but only one fetus had biopsy. Eight fetuses were born until term and 5 fetuses showed normal in follow-up. The results of twelve fetuses showed concordant with ultrasonic ifndings. Conclusions Characteristics of the nasal bone absence are absence of bilateral or unilateral nasal bones. If we ifnd nasal bone absence in prenatally ultrasound screening, the karyotyping should be recommended in order to detect chromosomal abnormalities especially trisomy 21.

Objective To investigate the incidence and distribution of fetal discrepancy during the first trimester in dichorionic twins.Methods This was a prospective analysis of dichorionic twin pregnancies that underwent 11+0～ 13+6 week scan at a tertiary hospital from Sep 2008 to Oct 2010.Differences in crown-rump length (CRL),nuchal translucency ( NT),heart rate ( HR).deepest vertical pockets of amniotic fluid (DVP) for every pair of twin fetuses were calculated and expressed as absolute value and percentage of discordance.Results A total of 66 dichorionic twin pregnancies were included.The average CRL was significantly different between the larger fetus and the smaller one,which were (65.28 ±8.54)mm and (62.34 ± 8.49) mm respectively ( P ＜ 0.001).The average NT was significantly different between two fetuses,which were ( 1.56 ± 0.35) mm and (1.28 ± 0.30) mm respectively. HR and DVP were also statistically different between two fetuses ( P ＜0.001).Conclusions The growth of two fetuses in normal dichorionic twins is not uniform during the first trimester.

Objective To investigate the diagnostic value of prenatal ultrasonography in the fetal hemivertebra. Methods The ultrasonographic findings of three fetuses with hemivertebra diagnosed in our hospital were reviewed and compared with those of postnatal ultrasonography,other image modalities,and autopsy. Results In all fetuses,a distortion of the spine was observed where only one half of the vertebra could be identified. The parents opted for termination of the pregnancy in one case and the deformity was confirmed by autopsy. The other two fetuses were delivered and in one fetus the diagnosis was confirmed by radiological assessment. Conclusions Hemivertebra can be diagnosed accurately by second-trimester ultrasonography. The prognosis is mostly favorable when no other anomalies are associated. Meticulous examination may disclose the lesion and help decide the fate of pregnancy.