[Objective]To evaluate the incidence of chromosomal abnormalities and associated abnormalities in prenatally diag?nosed clubfoot,and to determine the prognostic factors as well.[Methods]A total of 89 fetuses with clubfoot diagnosed during Janu?ary 2010 to October 2015 in prenatal ultrasound scan and confirmed postnatally or by autopsy,were selected,within which 16 (18.0%)cases were without other abnormalities and 73(82.0%)cases were with other abnormalities. The associated abnormalities were identified ,the correlation with chromosomal abnormalities were analyzed with Fisher analysis and the factors affecting the outcomes were determined with Logistic regression analysis.[Results]Among associated abnormalities ,the skeletal abnormalities besides the clubfoot were the most frequently associated anomalies (35 ,47.9%),and the central nervous abnormalities followed secondly(30,41.1%). A chromosomal abnormality,with trisomy 18 being the most frequently detected,was identified in 34%(17/49)of the clubfoot fetuses with other anomalies ,whereas none of chromosomal abnormality was identified in 11 fetuses without other anomalies,a significant different rate of aberrant chromosome noted(P < 0.001). The survival rate of clubfoot fetuses without other anomalies was higher than that of clubfoot fetuses with other anomalies(50.0%vs 1.3%,P=0.03). The conditions of with or without associated anomalies were the independent prognostic factors (P = 0.01),the clubfoot fetuses associated with other anomalies had poor outcomes[OR=11.9(95%CI:1.8,80.1)].[Conclusion]Skeletal abnormalities besides the clubfoot were the most frequently associated anomalies. The condition of with or without associated anomalies is the independent prognostic index for fetuses with clubfoot. Aneuploidy were more commonly in clubfoot fetuses with associated abnormalities than in those without other abnormalities. No indication for karyotyping suggests for the clubfoot fetuses without other abnormalities due to the low incidence of associate chromo?somal anomalies.

Objective To explore the effect of Lee Silverman voice treatment on the speech and life quality of Parkinson's disease patients.Methods A total of 98 patients with Parkinson's disease anddifferent degrees of speech disorder (Hoehn-Yahr clinical stages 1 to 3) were randomly divided into an intervention group and a control group,each of 49,according to a random number table.The control group was given routine speech therapy covering tongue and lip movement,rhythm,sound,volume,speed and respiratory control.The intervention group was provided with 12 weeks of Lee Silverman voice treatment aimed at abnormal voice and emphasizing pronunciation,4 times a week and 1 hour each time.During the treatment,all patients were required to practice once at home on treatment days and twice on days without treatment.The voice handicap index (VHI),the western aphasia battery (WAB),the speech function portion of UPDRS-Ⅲ and the speech articulation assesstnent were used to evaluate the 2 groups before and after the 12 weeks ofintervention.Results Beforethe intervention there was no significant differencebetween the two groups in any of the measurements.After the interventionsignificant improvement was ohserved in all of these indicesin bothgroups.After treatment the average total VHI score of the intervention group (60.39±9.84) had improved significantly more than that of the control group,as did the WAB score for spontaneous speech (14.64±1.98),listening comprehension (112.67± 19.43),repeating (65.31±7.98),Name (39.89±9.84) and the average AQ scores (69.19±10.78) and UPDRS-scores [(1.39±0.61)] [of the intervention group than the control group [(71.03±11.01),(13.67±1.06),(111.53±29.61),(63.75±7.41),(37.89± 9.29),(62.14±10.21) and (1.82±0.82)].After the intervention,the average speech articulation scores of the intervention and control group were (77.61± 11.72) and (59.67± 10.04),significantly higher than those before the intervention [(54.36±10.71) and (53.98±9.92)],with the improveinent of the intervention group significantly higher than the control group.Conclusion Lee Silverman voice treatment can effectively improve the speech and life quality of patients with Parkinson's disease.

Fish protein powder and fresh fish meal had been successfuly applied to infant feeding as milk substitute for infants during 1962-1964 by Shanghai Children's Hospital.On this basis the authors conducted another experiment intending to testify the therapeutic effect of fish protein powder in 1980-1981. One hundred and fifty infantile diarrhea cases were studied, wherein, 121 children aged under 12 months. By administering fish protein powder to the patients with various dosages according to ages, generally 5 gms. per day in a certain period, it was found that of the total diarrhea patients under study, 53.3% completely recovered, 22.0% became better significantly, 17.3% took a favourable turn, and 7.3% failed to respond to the treatment.Intensive observation and statistical analysis revealed that fish protein powder is not only suitable for normal infants as their milk supplement but also effective as a pharmaceutical to cure infantile diarrhea, especially for those who suffer from malnutrition with complications. Its pharmacology, however, has yet to be disclosed.

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 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.

This paper is a follow-up study of 329 children in factory-run nurseries in urban Shanghai. The investigation lasted for a period of one year for each index-child, focusing on the conditions of nutrition, development and diseases of the children of various ages.Comparison between nutritionl findings and RDA of China disclosed that calorie intake of most of the index-child groups were 80-85% of RDA, the only exception being the 6-12 months group where the average calorie intake showed 90%. Protein intake of all groups was over 80% of RDA. Fe intake was lower than RDA, except for 18-month-old and over.Weight and height of the children were compared with the anthropo-metric data established in 1985 (1985 data) for Shanghai children under six years of age. It was found that the average weight and height appeared differently according to their age. Average weight of children under one year old was slightly higher than 1985 data, while average height was lower than 1985 data once the children reached 10 months old. Average weight, however, became lower than the 1985 data after the children were two years old. Over 60% of the index between 6-18 months old suffered from anemia (IDA).Accordingly, it is requested that calorie and iron intake should be supplemented.

Objective To investigate the clinical performance of ultrasound screening for fetal structural anomalies at 11-13+6 weeks of gestation and to evaluate the relation of structural anomalies with karyotypes and copy number variations. Methods A retrospective analysis was conducted on fetuses with structural anomalies detected by ultrasound examination at 11-13+6 gestational weeks in First Affiliated Hospital of Sun Yat-Sen University from January 2013 to December 2017. Karyotype and chromosomal microarray analysis(CMA) were offered to these fetuses and ultrasound scans were repeated at 16-18 gestational weeks. All fetuses were followed up to termination or birth. Fisher's exact test was used for statistical analysis. Results A total of 362 fetuses with structural anomalies were studied including 101 (27.9%) fatal malformations, 253 (69.9%) major malformations and eight (0.2%) minor malformations. Cardiac malformation (32.6%, 118/362), central nervous system anomalies (24.9%, 90/362) and anterior abdominal wall defects (20.9%, 76/362) were the three most common abnormalities. Invasive prenatal test was performed in 107 cases including 25 fatal, 79 major and three minor malformations. Thirty (28%) out of the 107 cases had abnormal karyotypes, which were chromosomal aneuploidies (n=28) and chromosomal fragment abnormalities (n=2). Among the 99 cases received CMA, 25 had abnormal karyotypes, and copy number variations were identified in eight [three (4.05%) were pathogenic variations] out of the rest 74 with normal karyotypes. The incidence of chromosomal abnormalities in fetuses with major malformations was higher than that of fetuses with fatal malformation [32.9% (26/79) vs 12.0% (3/25), P=0.045]. Altogether, 117 cases repeated second-trimester ultrasound among which 16 (13.7%) were normal; 19 (16.2%) had cardiac defect which was discordant with the first-trimester evaluation and five (4.2%) were found to have additional malformations. Diagnosis of the other 77 cases were consistent with the first-trimester ultrasound findings. After the second-trimester ultrasound scanning, 49 pregnancies were terminated; 39 twin pregnancies and four triplet pregnancies underwent selective fetal reduction; 25 continued to delivery with good neonatal outcomes. Out of the 23 699 cases without abnormal ultrasound findings at 11-13+6 gestational weeks, 20 182 (85.2%) were successfully followed up, among which structural abnormalities were found in 178 during the second trimester and in 31 after birth. Conclusions A detailed ultrasound examination at 11-13+6 weeks of gestation is important to identify fetal structural defects. However, it could not replace the second-trimester ultrasound. There is a high risk of chromosomal abnormalities in fetuses with early-detected structural defects. CMA is able to identify pathogenic copy number variations with a relatively low detection rate.