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1.
OBJECTIVES: Our goal was to develop a framework for evaluating the current controversy regarding routine obstetric ultrasonography in a population of low-risk pregnancies. STUDY DESIGN: A retrospective chart review was performed for all low-risk pregnancies from a single obstetric practice during 1990 to 1994, to determine the accuracy of screening ultrasonography for fetal anomalies. All patients received a routine ultrasonographic examination at 18 to 20 weeks' gestation. Neonatal records for all patients were evaluated for the presence of both major and minor anomalies. The data were analyzed with attention to the classification of anomalies (all anomalies vs major anomalies, detectable vs nondetectable). RESULTS: A total of 860 fetuses in 854 pregnancies were evaluated. Anomalies were present in 5.35% (46/860); these were major anomalies in 1.16% (10/860) and minor anomalies in 4.19% (36/860). The sensitivity, specificity, and positive and negative predictive values for the diagnosis of all anomalies were 8.7%, 99.9%, 80%, and 95.7%, respectively. However, if only major anomalies detectable by ultrasonography are included, these values become 75%, 100%, 100%, and 99.9%, respectively. There was one false-positive diagnosis not affecting outcome, a small ventriculoseptal cardiac defect. Postnatal ascertainment of anomalies was excellent, as determined by an incidence of ventriculoseptal defects of 1 in 120. CONCLUSION: Distinguishing between major and minor anomalies and between ultrasonographically detectable versus nondetectable anomalies is essential in the evaluation of the diagnostic accuracy of screening ultrasonography. Any comparisons of studies examining the effectiveness of prenatal screening for congenital anomalies with ultrasonography should use the same outcome: major anomalies identifiable by ultrasonography.  相似文献   

2.
The advantages and limitations of transvaginal (TV) sonography in detecting fetal anomalies in the 12th week of pregnancy were examined in a prospective screening study of an unselected population. During a 3-year period, 3991 examinations were performed and 35 fetuses were identified as having 43 anomalies (0.9 per cent). Most of these malformations were either severe structural disorders or isolated nuchal changes when karyotyping revealed chromosomal aberration in six cases. Twenty-one pregnancies were terminated and three fetuses died. Routine transabdominal (TA) ultrasonographic examinations were performed at 18 and 30 weeks in all those pregnancies where the TV scan had not found fetal anomalies. TA sonography identified 19 abnormal fetuses and ten cases remained undetected. TV sonography detected 51 per cent of malformed fetuses which were diagnosed prenatally (not including cases with nuchal oedema) and 41 per cent of the total were found in this study. Besides offering the possibility of early termination, first trimester screening has the advantage of identifying a transient sonographic sign, nuchal oedema, which can be used as a marker in screening for fetal chromosomal abnormalities. However, standard mid-second-trimester TA scanning is still recommended, since a significant number of malformations cannot be detected so early in pregnancy.  相似文献   

3.
BACKGROUND: The potential of hyperechogenic fetal bowel to act as a hallmark for prenatal cystic fibrosis screening in the general population is controversial. METHODS: Our goal was to evaluate the incidence of cystic fibrosis in 209 fetuses with hyperechogenic bowel diagnosed at routine ultrasonography and with no family history of cystic fibrosis. The diagnosis of cystic fibrosis was based on prenatal screening for the eight mutations most frequently observed in France (deltaF508, deltaI507, 1717-1G-->A, G542X, G551D, R553X, W1282X, N1303K) and at postnatal follow up. RESULTS: The overall incidence of cystic fibrosis was 7/209 (3.3%) which is 84 times the estimated risk of CF in the general population (112500). Of these seven cases, six were diagnosed prenatally based on DNA analysis (deltaF508/deltaF508, n=5; deltaF508/G542X, n=1). One case in which only one mutation had been recognised was diagnosed clinically after birth (deltaF508/unidentified mutation). Of the seven cases, none was diagnosed at 16-19 weeks, four at 16-24 weeks, and three after this. The incidence of heterozygous fetuses (15/209, 7%) was not significantly higher than the 5% expected in the general population. The mutations involved in these heterozygous cases were deltaF508 (n=13), G542X (n=1), and G551D (n=1). CONCLUSIONS: Screening for cystic fibrosis should be offered to families in which fetal hyperechogenic bowel is diagnosed at routine ultrasonography. This underlines the need to review genetic counselling in this situation where the fetus is the index case for a genetic disease.  相似文献   

4.
PURPOSE: To investigate the importance of nuchal translucencies in the first trimester of pregnancy as an ultrasonographic marker for fetal chromosome abnormalities. MATERIALS AND METHODS: One hundred two first-trimester fetuses with a nuchal translucency of 3 mm or more were karyotyped. Multiple logistic regression analysis was performed to estimate the risk of fetal chromosomal abnormalities related to nuchal translucencies. RESULTS: Fifty-five (54%) of the fetuses had a normal karyotype. Forty-seven (46%) had an abnormal karyotype. The risk of chromosome abnormality was strongly increased in fetuses with a septated nuchal translucency compared with fetuses with a nonseptated nuchal translucency. CONCLUSION: First-trimester nuchal translucency is an important ultrasonographic marker for chromosomal abnormalities in the fetus. The presence of a normal karyotype in a fetus is a strong indication that detailed ultrasonographic examination for associated anomalies should be undertaken.  相似文献   

5.
OBJECTIVE: Our purpose was to determine whether the presence of heme pigments in amniotic fluid is associated with the ultrasonographic findings of increased fetal bowel echogenicity in the second trimester. STUDY DESIGN: Spectrophotometric analysis of amniotic fluid for optical density at 410 nm was prospectively performed to study the presence of heme pigments in (1) 104 pregnancies undergoing second-trimester amniocentesis for routine cytogenetic indications and (2) in 14 pregnancies undergoing amniocentesis for prenatal karyotyping because of fetal strongly echogenic bowel. In the routine amniocentesis group the fetal small bowel echogenicity was assessed immediately before amniocentesis and classified as nonechogenic (n = 64), mildly echogenic (n = 36), or hyperechogenic (n = 4) with the fetal iliac wing and liver used as references. Only amniotic fluid specimens that were obtained at the first attempt and that were not blood-stained were included in this study, with the first milliliter being discarded in all samples. RESULTS: In the routine amniocentesis group abnormal amniotic fluid optical density readings were significantly more frequent in fetuses with increased bowel echogenicity compared with those with nonechogenic bowel (8/40 [20%] vs 3/64 [5%], respectively; p < 0.001). In the hyperchogenic bowel group abnormal amniotic fluid optical density readings were found in four samples (29%). Overall, 12 of 54 fetuses (22%) with increased bowel echogenicity had a detectable peak at 410 nm. Three of the 12 (25%) fetuses with echogenic bowel and positive readings for hemoglobin were chromosomally abnormal. CONCLUSIONS: Fetal small bowel echogenicity is associated with the presence of heme pigments in amniotic fluid as determined by amniotic fluid optical density at 410 nm. Swallowing of amniotic fluid after intraamniotic bleeding seems implicated in the etiology of second-trimester echogenic bowel in both euploid and aneuploid fetuses.  相似文献   

6.
The objective of this study was to compare two-dimensional and three-dimensional ultrasonographic evaluation of fetal distal lower extremities. Data from two-dimensional and three-dimensional ultrasonographic examinations from 40 distal lower extremities in 33 fetuses from a predominantly high-risk patient population were compared. Three-dimensional ultrasonography routinely provided three orthogonal planes (coronal, sagittal, and axial) for distal lower extremity evaluation. Specific features of distal lower extremity evaluation were not different using two-dimensional and three-dimensional ultrasonography. Rotation of the rendered volume provided assistance in assessing all but one of 40 distal lower extremities. Time from image acquisition to assessment for two views (coronal and sagittal) was longer with three-dimensional ultrasonography (8.2 min) than with two-dimensional ultrasonography (3.2 min). Confidence in the diagnosis of abnormal distal lower extremities was slightly improved using three-dimensional ultrasonography compared to two-dimensional ultrasonography. Pregnancy management was assisted in three of the four cases with isolated limb anomalies. In conclusion, three-dimensional ultrasonography improves the ability to evaluate the fetal distal lower extremity because of the multiplanar nature of volume assessment and the ability to rotate volume data sets. In addition, it provides assistance in counseling families, particularly for cases involving isolated limb anomalies.  相似文献   

7.
OBJECTIVE: To compare the cost effectiveness of different programmes of routine antenatal ultrasound screening to detect four key fetal anomalies: serious cardiac anomalies, spina bifida, Down's syndrome and lethal anomalies, using existing evidence. DESIGN: Decision analysis was used based on the best data currently available, including expert opinion from the Royal College of Obstetricians and Gynaecologists, Working Party and secondary data from the literature, to predict the likely outcomes in terms of malformations detected by each screening programme. SETTING: Results applicable in clinics, hospitals or GP practices delivering antenatal screening. MAIN OUTCOME MEASURE: The number of cases with a 'target' malformation correctly detected antenatally. RESULTS: There was substantial overlap between the cost ranges of each screening programme demonstrating considerable uncertainty about the relative economic efficiency of alternative programmes for ultrasound screening. The cheapest, but not the most effective, screening programme consisted of one second trimester ultrasound scan. The cost per target anomaly detected (cost effectiveness) for this programme was in the range 5,000 pound silver-109,000, pound silver but in any 1000 women it will also fail to detect between 3.6 and 4.7 target anomalies. CONCLUSIONS: The range of uncertainty in the costs did not allow selection of any one programme as a clear choice for NHS purchasers. The results suggested that the overall allocation of resources for routine ultrasound screening in the UK is not currently economically efficient, but that certain scenarios for ultrasound screening are potentially within the range of cost effectiveness reached by other, possibly competing, screening programmes. The model highlighted the weakness of available evidence and demonstrated the need for more information both about current practice and costs.  相似文献   

8.
OBJECTIVE: To measure fetal pericardial fluid in low-risk second-trimester pregnancies and to evaluate outcome for those with measurements greater than 2 mm. METHODS: Five hundred and six women were referred for sonography between 16 and 25 weeks' gestation for common obstetric indications (dating, fetal survey, and placental location) unrelated to an increased risk of anomalies. All cases were evaluated with two-dimensional and M-mode real-time ultrasonography with the use of a mechanical sector transducer. The maximum distance of the fetal hypoechoic cardiac rim was recorded. We reviewed maternal and infant charts for those with measurements greater than 2 mm. RESULTS: Median (range) maternal age was 25 (15-42) years. Median gravidity and parity were two (1-14) and one (0-11), respectively. Median estimated gestational age was 20.4 (16.3-24.9) weeks. Fetal pericardial fluid was seen in 360 of 506 (71%) fetuses. Of these 360 fetuses, the mean distance (+/- 2 standard deviation) of the fetal hypoechoic cardiac rim was 1.20 mm +/- 0.91 mm (95% confidence interval 1.15, 1.25). Among the 506 cases, the maximum measurement was 3 mm. Ten of the 506 (2%) cases had measurements greater than 2 mm. None of these ten fetuses had a cardiac structural abnormality or arrhythmia, and perinatal outcome was unremarkable. CONCLUSION: During second-trimester fetal ultrasonographic examination, visualization of pericardial fluid up to 2 mm in the fetus with current high-resolution technology is common and should not be regarded as pathologic.  相似文献   

9.
Despite advances in postnatal care, patients born with a congenital diaphragmatic hernia (CDH) suffer substantial morbidity and mortality. The present study was undertaken to determine the prognostic influence of prenatally-diagnosed liver herniation in the hemithorax in fetuses with CDH. The medical records of 48 patients evaluated for a prenatally-diagnosed left CDH were retrospectively reviewed. Patients were analysed according to the position of the liver by prenatal ultrasound; 32 fetuses had a major portion of the liver herniated into the left hemithorax ('liver up') and 16 had an intra-abdominal liver ('liver down'). Liver position was determined using colour-flow Doppler ultrasonography. There were two fetal deaths in the liver-up group and one in the liver-down group. The liver-up group more frequently required extracorporeal membrane oxygenation (ECMO) support (53 per cent) compared with the liver-down group (19 per cent). Postnatal survival was significantly less in the liver-up group (43 per cent) vs. the liver-down group (93 per cent). Fetuses with congenital diaphragmatic hernia and liver herniated into the hemithorax have a much worse prognosis than similarly afflicted fetuses without liver herniation. Prenatal ultrasonographic diagnosis of congenital diaphragmatic hernia allows for preparation for a critically ill newborn and aids in prenatal family counselling.  相似文献   

10.
OBJECTIVE: This study was designed to determine the range of normal fetal nasal width by ultrasonography, which may be beneficial for detection of trisomy 21 and other chromosomal abnormalities. We hypothesize that a wide, saddle-shaped nose, which is one of the clinical neonatal anatomic features of trisomy 21, can be diagnosed prenatally. STUDY DESIGN: Fetal nasal width diameter was measured on 782 normal white fetuses by ultrasonography. Gestational ages ranged from 13.8 to 40.4 weeks. Mean and SD of fetal width diameter was calculated weekly by gestational age to establish normal values. RESULTS: The fetal nasal width increased as a function of gestational age, showing a polynomial curve during pregnancy (r = 0.912, p = 0.002). With use of mean +/- 1 SD as a cutoff value, the results showed a sensitivity of 80% with a specificity of 67% and a positive predictive value of 2.2% with a negative predictive value of 99.7% for the diagnosis of trisomy 21. CONCLUSION: The fetal nasal width diameter may be used as a biometric measurement and may be useful to identify trisomy 21 or other chromosomal abnormalities in conjunction with other already defined parameters used in a genetic ultrasonographic screen.  相似文献   

11.
This study summarizes 24,000 transvaginal ultrasound examinations which were performed in a predominantly low-risk population at 14-16 weeks' gestation. 1254 (5.2 per cent) fetuses had a nuchal fold or a non-septated cystic hygroma. Of these fetuses, 140 (11.1 per cent) had additional structural anomalies. Cardiovascular anomalies were the most commonly detected structural malformations. Forty-three (3.4 per cent) fetuses were aneuploid. Trisomy 21 was the most common chromosomal anomaly (n = 27). Aneuploidy was significantly more common in fetuses who had a nuchal finding and an associated structural anomaly. The prevalence of nuchal fold and non-septated cystic hygroma, as well as the incidence of their associated structural anomalies, was similar. Based on these data, it is concluded that a complete ultrasonic survey of the fetus and karyotyping are advocated in fetuses with a nuchal abnormality, irrespective of maternal age or triple serum screening results.  相似文献   

12.
Ultrasonographic examination of the fetal abdomen is an integral part in all routine fetal sonograms and can provide significant information about the status and prognosis of the fetus. Although many types of fetal anomalies can be identified (i.e., gastroschisis, omphalocele, or congenital diaphragmatic hernia), there are several sonographic findings that are not clearly anomalous, but may be associated with poor fetal outcome. Echogenic fetal bowel, small or absent fetal stomach and fetal intra-abdominal calcifications all fall into this category. This article reviews the recent literature as it relates to these topics, including suggestions regarding the need for further action, and the types of further actions that are available to help identify abnormal fetuses and prevent unnecessary and/or invasive testing of normal ones.  相似文献   

13.
The aim of this study was to determine the etiology, associated anomalies and outcome of fetuses with postural deformities and contractures of the upper extremities detected sonographically. Fifty-four fetuses with sonographically detected postural anomalies of the upper extremities were identified from our database. Sonographic findings and associated anomalies were tabulated on the basis of the original sonogram. Perinatal follow-up and/or karyotype were available in 52 cases from a review of the maternal and newborn medical records and pathology reports. Of the 52 fetuses with sonographically detected anomalies of the upper extremities, 44 (85%) were non-survivors and eight (15%) were survivors. Forty-three fetuses had associated sonographic abnormalities. Karyotyping performed in 44 cases revealed 26 cases (59%) of aneuploidy, with trisomy 18 accounting for 23/26 (88%). In the setting of a normal karyotype, a variety of genetic disorders were found, including syndromes involving the fetal dyskinesia/akinesia sequence. Disturbances in amniotic fluid occurred in 48% of the cases (24 fetuses with polyhydramnios and one with oligohydramnios). In conclusion, the sonographic detection of postural abnormalities of the upper extremities carries a guarded prognosis, with survival in 15% of fetuses and a high incidence of chromosomal defects.  相似文献   

14.
In order to study the first trimester ultrasonographic differences between nuchal translucency and hygroma colli, we rescanned 25 fetuses (13 with nuchal translucency and 12 with hygroma colli) using transvaginal and three-dimensional ultrasonography, after obtaining a fetal karyotype report. Our objective was to test the premise that the different physiopathologic mechanisms of both processes would be reflected in detectable sonographic differences. Our retrospective analysis showed that the most striking ultrasonographic difference was the presence of bullae as well as greater irregularity, extent, and amplitude of the membrane in cases of hygroma colli. Fetuses with simple nuchal translucency had a more homogeneous linear membrane. Although detailed analysis was impossible in 30% of cases, we found three-dimensional ultrasonography to be a useful technique for establishing the differences between these two entities.  相似文献   

15.
OBJECTIVE: To determine the risk of Down's syndrome in fetuses with isolated hydronephrosis at 18-23 weeks in an unselected general population after routine screening for Down's syndrome, using first trimester nuchal translucency measurement and second trimester maternal serum biochemistry. POPULATION: All pregnant women undergoing a routine 18-23 week ultrasound scan, from a population who had been offered screening for Down's syndrome. SETTING: A district general hospital serving a low risk obstetric population. METHODS: Prospective study of all routine 18-23 weeks ultrasound scans. The prevalence of isolated hydronephrosis and Down's syndrome was determined and the relative risk for Down's syndrome was calculated for different ultrasound findings. RESULTS: 10,971 women were scanned at 18-23 weeks during the study period. Down's syndrome was diagnosed in 14 of 20 cases before this stage using first trimester nuchal translucency measurement and second trimester maternal serum biochemistry. Isolated fetal hydronephrosis was diagnosed in 423 pregnancies (3.9%); none of these pregnancies were affected by Down's syndrome. The relative risk for Down's syndrome was 0.18 (95% CI 0.06-0.53) for women with a normal scan (n = 9983). When multiple ultrasound markers were found (n = 565), the relative risk for Down's syndrome was 2.00 (95% CI 0.18-22.10) and 9.00 (95% CI 1.14-71.30) for all other aneuploidies. CONCLUSION: The finding of isolated fetal hydronephrosis does not significantly increase the age-related risk for Down's syndrome. The presence of multiple ultrasound markers is associated with an increased risk of aneuploidies other than Down's syndiome. These findings are explained by the reduced prevalence of Down's syndrome as a result of prior screening and diagnosis of this condition.  相似文献   

16.
The purpose of this retrospective study was to evaluate the utility of routine measurement of amniotic fluid alpha-fetoprotein levels at the time of second trimester genetic amniocentesis (mean gestational age, 17.3 weeks +/- 2.5 weeks standard deviation; median, 16.8 weeks; range, 15 to 22 weeks). During the study period 7174 patients underwent second trimester genetic amniocentesis. Outcome data were available in all cases. In 79 (1.1%) cases the amniotic fluid alpha-fetoprotein level was > or = 2.0 multiples of the median. Thirty-three of the 79 (42%) patients had normal ultrasonograms, and in 31 of 33 (94%) the amniotic fluid alpha-fetoprotein level was between 2.0 and 3.0 multiples of the median. Forty-six of the 79 (58%) patients had abnormal ultrasonographic findings, and of these, 82% were neural tube defects, abdominal wall defects, or cystic hygromas. Acetylcholinesterase was positive in 37 cases, all of which had abnormal ultrasonographic findings. None of the fetuses with negative findings on sonographic screening had detectable abnormalities at birth. In this study, with over 7000 patients, amniotic fluid alpha-fetoprotein and acetylcholinesterase levels did not increase the detection of fetal abnormalities. On the basis of these results, routine measurement of amniotic fluid alpha-fetoprotein level at the time of routine genetic amniocentesis (15 to 22 weeks) does not appear justified.  相似文献   

17.
We studied the diagnostic predictive power of transrectal ultrasonography (TRUS) coupled with semen volume in cases of distal seminal tract sub-obstruction. As a gold standard for diagnosis we used seminal tract washout (STW). Non-azoospermic subjects (n = 112) were submitted to transrectal ultrasonography because of suspected excretory infertility or other andrological pathologies, before performing STW. STW indicated ejaculatory duct sub-obstruction in 36.6% of the patients. Seminal vesicle enlargement (anterior-posterior diameter > or = 15 mm) and seminal vesicle roundish anechoic areas (stasis) were the ultrasonographic anomalies more often associated with ejaculatory duct sub-obstruction. Stepwise logistic regression (SLR) analysis revealed that the ultrasonographic evidence of stasis was highly diagnostic only in the presence of a low semen volume (< or = 1.5 ml) and that ejaculatory duct sub-obstructions may be present but with no evidence of ultrasonographic anomalies. Therefore, TRUS is a useful approach for the treatment of suspected ejaculatory duct sub-obstruction, but is not a reliable diagnostic tool and, before performing transurethral surgery, STW should be mandatory.  相似文献   

18.
Clinical outcomes of 95 second-trimester fetuses prospectively considered to have echogenic bowel at ultrasound were compared with a control group of 110 consecutive second-trimester fetuses. Among the 95 fetuses in the study group, 64 (67%) had moderately echogenic (grade 2) or markedly echogenic (grade 3) bowel relative to the liver. Among the 110 fetuses in the control group, only two (1.8%) had moderately echogenic (grade 2) bowel; the rest (98.2%) had isoechoic (grade 0) or midly echogenic (grade 1) bowel relative to the liver. Adverse outcomes occurred in 45 of the 95 fetuses (47%) with echogenic bowel compared with eight of the 110 fetuses (7.27%) in the control group (P < .01; relative risk, 6.5; 95% confidence interval, 3.2, 13.1). Adverse outcomes included chromosomal abnormalities, intrauterine growth retardation, fetal demise, or other fetal anomalies. Within the study group, adverse outcomes occurred in 40 of the 64 fetuses (62%) with grade 2 or 3 bowel echogenicity, compared with five of the 31 fetuses (16%) with grade 1 echogenicity. Echogenic bowel is associated with an increased risk of adverse fetal outcome and this risk is confined primarily to grades 2 and 3 echogenicity.  相似文献   

19.
OBJECTIVE: To evaluate the etiology and outcome of fetal hydrops of nonimmune origin diagnosed in utero during the first half of pregnancy. METHODS: We reviewed 45 cases of nonimmune fetal hydrops presenting between 11 and 17 weeks' gestation over a 4-year period. RESULTS: The median gestational age at diagnosis of fetal hydrops was 14 weeks. Placental edema was most commonly associated with generalized skin edema. Ascites was also observed in four cases, but no case presented with pleural or pericardial effusion. The fetal karyotype was abnormal in 35 cases (77.8%). Of the ten fetuses with a normal karyotype, four were classified as idiopathic, three had isolated atrioventricular septal defect, two were associated with maternal infection, and one had multiple pterygium. Fetal heart rate anomalies were found in both chromosomally normal and abnormal fetuses. All but one of the karyotypically abnormal pregnancies and five of ten euploid pregnancies were terminated. In all six pregnancies that continued, resolution occurred before mid-gestation. Three continuing euploid pregnancies resulted in fetal death, and only two had a normal outcome. CONCLUSION: Nonimmune fetal hydrops diagnosed before 18 weeks' gestation is associated with a higher incidence of aneuploidy than hydrops diagnosed during the second half of pregnancy. In most affected fetuses with a normal karyotype, spontaneous resolution occurred before 24 weeks' gestation, although the outcome was generally unfavorable.  相似文献   

20.
PURPOSE: To evaluate fetuses with sonographically suspected central nervous system anomalies to determine the frequency with which obstetric magnetic resonance (MR) imaging adds clinically useful information to that provided by ultrasonography (US). MATERIALS AND METHODS: US and MR images and diagnoses in 18 pregnant women were reviewed and compared by two radiologists. Postnatal physical examination and imaging findings and fetal autopsy results were standards. Referring physicians were questioned as to how the additional information provided by MR imaging changed patient counseling. RESULTS: In 10 (55%) patients, MR imaging demonstrated 11 additional findings. These findings were agenesis of the corpus callosum (n = 4), cerebellar hypoplasia (n = 2), cortical cleft (n = 2), polymicrogyria (n = 1), porencephaly (n = 1), and partial agenesis of the septi pellucidi (n = 1). In seven (39%) patients, additional information provided by MR imaging altered counseling. In one case of suspected agenesis of the corpus callosum, diagnosis at MR imaging was at least partially incorrect. CONCLUSION: US and MR imaging are complementary imaging methods in the evaluation of high-risk pregnancy. When a central nervous system anomaly is suspected at US, MR imaging may demonstrate additional findings that can alter patient counseling.  相似文献   

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