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1.
Objective: To review pregnancy outcomes when two or more ultrasound scans persistently fail to visualize the fetal stomach.Methods: A computerized ultrasound database was used to identify all fetuses in which two or more serial ultrasound examinations failed to visualize the fetal stomach. Sonographic images were reviewed retrospectively, with the reviewer blinded to outcome data, to confirm persistent nonvisualization. Pregnancy outcome data were obtained from hospital charts and physicians’ office records. Fetal karyotypes, when performed, were obtained from amniotic fluid (AF) culture. The ultrasound findings then were compared with fetal karyotype results and pregnancy outcome data.Results: Of 35,569 ultrasound scans performed during 1991–1996, 26 fetuses (0.07%) with persistently nonvisualized stomachs were identified. Structural defects were detected in 17 fetuses (65%), most often involving the cardiothoracic (n = 5), genitourinary (n = 4), and central nervous systems (n = 4). Karyotypes were obtained in 12 fetuses, and four of them were abnormal. Only five of 17 fetuses (29%) with a structural defect survived. In nine of 26 fetuses (35%) with persistently nonvisualized stomachs, no structural defect was identified. Each of these nine fetuses had abnormal AF volume in its surrounding sac, and the overall perinatal survival in fetuses without a structural defect was only 50%.Conclusion: Fetuses with persistently nonvisualized stomachs have an increased incidence of structural defects and AF abnormalities and are more likely to have a poor outcome. A detailed ultrasound examination and fetal karyotype analysis should be performed to evaluate fetuses with persistently nonvisualized stomachs.  相似文献   

2.
BACKGROUND: Neural tube defects occur in approximately 1 in every 1,000 live births. In the United States, chromosomal abnormalities have been noted in 2-10% of fetuses with neural tube defects; however, there is no consensus on whether to offer karyotype analysis to patients with isolated neural tube defects found on ultrasound. CASE: We reviewed the prenatal diagnosis database for the University of Washington between 1985 and 1997. We report on two fetuses who, on ultrasound, were found to have "isolated" neural tube defects. Karyotype analysis revealed trisomy 18 in both fetuses. The pregnancies were subsequently terminated, and autopsy revealed subtle syndromic findings that were not identified on ultrasound. CONCLUSION: Fetuses with isolated neural tube defects also appear to have a high risk of chromosomal abnormalities, so patients should be offered fetal karyotyping to define recurrence risks for future pregnancies.  相似文献   

3.
OBJECTIVE: The article presents a retrospective analysis (1989-1997) of the prenatal diagnosis, the course and completion of pregnancy of 26 fetuses with omphalocele and 18 fetuses with gastroschisis. SUBJECTS: 44 pregnancies with anterior fetal wall defect diagnosed by prenatal ultrasound, clinical or patho-anatomic examination between 1989 and 1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. RESULTS: In 40 of 44 pregnancies (91%) the fetal ventral abdominal wall defect could be detected antenatally with ultrasound. Associated malformations in fetuses with omphalocele were seen in 18 cases (69%), whereas only five fetuses with gastroschisis (28%) had an associated malformation. Nineteen of 26 fetuses (73%) with omphalocele had a normal karyotype. Seven of 26 fetuses (27%) with omphalocele had an abnormal karyotype. Eleven fetuses with omphalocele were live born, three of them with minor anomalies. Ten babies with omphalocele survived. No chromosomal anomalies were detected in fetuses with gastroschisis. There were four gastrointestinal malformations and one lethal associated malformation in fetuses with gastroschisis. There were 15 live born babies with gastroschisis, all of whom have survived. In 20 of 44 cases (45%) with ventral abdominal wall defect oligohydramnios could be detected by ultrasound. In 28 of 44 cases (64%) we found fetal growth retardation <10th percentile for gestational age. CONCLUSION: In case of a fetal ventral abdominal wall defect, the detection and appropriate classification of associated fetal anomalies is of great importance for the further course of pregnancy. Fetal karyotyping should be offered in case of a fetal abdominal wall defect. Early and close prenatal consultation of the neonatologist and the pediatric surgeon will favorably influence the perinatal outcome.  相似文献   

4.
We analyzed the karyotype of fetuses with ultrasonographically detected neural tube defects (NTDs). In our study, we included a total of 194 fetuses with NTDs. We analyzed the type of NTD, the karyotype, maternal age, fetal gestational age at diagnosis, and fetal sex. Of the 194 fetuses with NTDs, 87 were anencephalic and 107 had other, nonanencephalic, NTDs. A total of 12 fetuses were shown to have chromosomal abnormalities. Three of 87 anencephalic fetuses (3.45%) had chromosomal abnormalities. The sex ratio for anencephalic fetuses was 65.5% : 34.5% for female and male fetuses. Nine of 107 fetuses with other NTDs (8.41%) had chromosomal abnormalities. Seven fetuses had isolated NTDs and a further seven fetuses had additional ultrasonographic anomalies. Two of the latter had abnormal karyotypes. The sex ratio of all other NTD cases was 67.3% : 32.7% for female and male fetuses. The high number of chromosomal abnormalities justifies prenatal karyotyping in all fetuses with ultrasonographically diagnosed NTDs.  相似文献   

5.
The prenatal diagnosis of a genitourinary anomaly was made in 53 fetuses. Sonographic findings, antenatal course, and postnatal treatment and outcomes were examined. No interventional therapy was undertaken in utero, and the natural history could be examined in the 44 of 53 (83%) who did not electively terminate their pregnancies. Twenty-three of the total 53 (43%) had unilateral disease and 30 (57%) had bilateral involvement. Thirty-five of 53 (66%) survived, with 22 undergoing operative therapy postnatally. In all but one of the 35 survivors, the anomaly was isolated to the genitourinary tract, and the majority of surviving fetuses had unilateral disease. Oligohydramnios was present in only three of 35 survivors, and none had severe oligohydramnios. Nine of 53 women underwent termination of pregnancy and nine others experienced a neonatal death. All 18 of their fetuses had bilateral disease, with oligohydramnios present in 14 (78%). All five fetuses with chromosomal abnormalities were found in this group of 18. The majority of fetuses with a genitourinary anomaly will do well postnatally. Pulmonary hypoplasia, extrarenal anomalies, and chromosomal defects are frequent findings in the minority with poor outcomes. A multidisciplinary approach to management of the pregnancy with a fetal genitourinary tract anomaly is essential to optimize outcome.  相似文献   

6.
目的通过心脏畸形胎儿产前诊断及临床预后评分评估为先天性心脏病胎儿遗传咨询及临床分析提供更多依据。方法收集2018年4月至2019年10月因胎儿心脏畸形来怀化市妇幼保健院产前诊断中心就诊的52例孕妇临床资料。通过产前诊断获得标本并行染色体核型及CMA检测。结果52例心脏畸形胎儿中染色体核型异常为13.46%(7/52),核型正常的胎儿中有5例检出拷贝数变异(copy number variation,CNV),检出率为9.6%(5/52)。40例染色体核型及微阵列分析均正常的胎儿中,按出生缺陷临床预后评分体系评分。其中0分Ⅰ级正常变异9例,均继续妊娠;1~3分Ⅱ级者共17例,继续妊娠16例;4~6分Ⅲ级者共11例,继续妊娠3例;7~9分Ⅳ级者3例,均引产。40例中继续妊娠28例。结论胎儿先天性心脏病与遗传因素相关,需行产前诊断,排除遗传因素后行临床预后评分评估,对临床分析及围产期管理,改善胎儿预后,提高我国出生人口质量起到重要的作用。  相似文献   

7.
A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY+der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.  相似文献   

8.
Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.  相似文献   

9.
We reviewed the available molecular cytogenetic techniques and their potential use in prenatal diagnosis of fetuses with multiple congenital anomalies and a “normal” standard chromosomal karyotype. We searched Medline to identify reports published after 1995 that were related to molecular prenatal diagnosis. After review, we reached the following conclusions:
  • 1.In fetuses with a normal standard karyotype result, common chromosomal microdeletion syndromes may be suspected based on the pattern of congenital anomalies seen on prenatal ultrasound.
  • 2.When a microdeletion syndrome is suspected based on the pattern of fetal anomalies, FISH testing for the specific molecular locus should be undertaken.
  • 3.Routine chromosome analysis, which has been the gold standard for prenatal cytogenetic diagnosis, may in the future be replaced by microarray technology with increased diagnostic capability for smaller, submicroscopic genetic alterations associated with postnatal morbidity.
  • 4.Microarray technology has been shown to increase our ability to make a diagnosis of known or new chromosomal deletion syndromes in pediatric populations with developmental delay. The use of this technology for prenatal diagnosis is currently limited but is likely to expand.
  相似文献   

10.
Over a 6 1/2 year period, in 288 pregnancies a variety of fetal malformations were detected by ultrasound. Two hundred and ten fetuses (73 per cent) were karyotyped. Gestational age at detection ranged from 11 to 38 weeks. The incidence of an abnormal karyotype in the total series was 14 per cent and 14.7 per cent in the 210 pregnancies in which a karyotype was performed. Single structural anomalies were found in 149 cytogenetically investigated fetuses, of which 25 had a chromosomal abnormality (17 per cent). Multiple structural malformations were present in 61 fetuses, of which 16 had an abnormal karyotype (26 per cent). Trisomy 18 was the most frequent finding. The most constant ultrasound finding in cases of an abnormal karyotype was polyhydramnios and severe IUGR in combination with structural defects. There is a need for extensive detailed ultrasound examination in high-risk pregnancies.  相似文献   

11.
247例妊娠中期孕妇羊水细胞染色体核型分析   总被引:8,自引:0,他引:8  
目的 分析妊娠中期进行产前诊断的孕妇羊水细胞染色体核型,了解此期异常核型发生的频率、类型及与各种产前诊断指征的关系。方法 对247例妊娠中期孕妇行羊膜腔穿刺术抽羊水作羊水细胞培养检查染色体核型。结果 发现异常核型14例,异常核型出现频率为5.67%,其中三体型7例,占异常核型的50%,分别为21三体4例,18三体2例,13三体1例;其次为平衡易位6例,占42.86%。高龄孕妇中21三体检出率为5.56%(1/18),非高龄组为1.31%(3/229),P=0.235,差异无显著性。15例产前常规B超检查发现胎儿发育异常的孕妇中,检出三体儿3例。结论 在有各种产前诊断指征的妊娠中期孕妇中,胎儿染色体异常发生率为5.67%,染色体三体为主要的异常核型。孕中期B超检查做为产前常规筛查可提高胎儿染色体异常的检出率。  相似文献   

12.
The pregnancy outcomes of 155 women who underwent an amniocentesis for a prenatal karyotype after being diagnosed by ultrasound as having one or more nonlethal structural anomalies are presented. Thirty-three (21%) patients were found to have an abnormal karyotype. Knowledge of the prenatal karyotype was useful in the subsequent management of these pregnancies. A pregnancy with a fetal anomaly diagnosed prior to 24 weeks was more likely to be terminated if an abnormal karyotype was also present. In women who were diagnosed as having a fetal anomaly with an abnormal karyotype at 24 weeks or later, only 3 of 13 (23%) infants survived the neonatal period. Knowledge of the karyotype results influenced decisions regarding the place, timing, and route of delivery in these fetuses. In 32 women, (21%) a karyotype was beneficial by avoiding maternal transport, cesarean delivery, and neonatal expenses at a Level III perinatal center.  相似文献   

13.

Objective

Our aim was to describe ultrasound findings and perinatal outcome after prenatal diagnosis of persistent right umbilical vein (PRUV).

Study design

We performed a retrospective analysis of fetuses with an ultrasound-based prenatal diagnosis of PRUV on record at 2 tertiary centers in Madrid, Spain. We describe clinical, maternal, fetal and perinatal variables for all cases.

Results

A total of 20,426 fetuses were delivered between the study centers. We detected 22 cases (0.1%) of PRUV. The male-to-female ratio was 1:1. All cases were intrahepatic type and diagnosed during the second and third trimesters (median, 21 weeks; IQR, 20–29 weeks). Doppler ultrasound revealed normal flow in the ductus venosus in all cases. Nine fetuses (40.9%) had additional ultrasound anomalies but no chromosomal abnormalities. Cardiovascular malformations were the most frequently associated congenital anomalies (4/9), followed by neurological malformations (2/9). In 5 of the cases with no concomitant anomalies, the weight of the newborn was below the tenth percentile for gestational age. Gestational development was normal for the remaining newborns. Delivery was unremarkable, and post-natal evolution was favorable.

Conclusion

Our results point to a potential association between PRUV and other fetal malformations and a very low rate of chromosomal abnormalities. Prenatal diagnosis of PRUV should be followed by detailed anatomical evaluation and echocardiography in order to rule out other structural malformations. The indication for a fetal karyotype study must be made on an individual basis considering PRUV type and other ultrasound findings.  相似文献   

14.
Thirty-four fetuses with ultrasonographically diagnosed abdominal wall defects are described. In 20 out of the 25 (80%) cases with omphalocele, there were associated abnormalities, mainly chromosomal defects (48%), cardiac (28%), genitourinary (20%), craniofacial (20%) and diaphragmatic anomalies (12%). In gastroschisis, associated structural anomalies occurred in 2 out of 5. The 4 cases of abdominal wall defects as a part of amniotic band syndrome were associated with multiple severe defects. No chromosomal defects were found in the group with gastroschisis and amniotic band syndrome. Intrauterine fetal death occurred in 8 cases. Sixteen pregnancies were electively aborted because of an association with an anomaly incompatible with postnatal life; 3 pregnancies were electively terminated on their parents' own request. Two infants died shortly after birth. Seven infants were successfully treated. When level I ultrasound examination demonstrates a fetal abdominal wall defect, a detailed level II ultrasound examination is recommended to exclude associated malformations. In case of omphalocele, prenatal chromosome analysis is indicated. Delivery in a tertiary care center is recommended. A randomized prospective trial is needed to see whether cesarean section or vaginal delivery is the preferred mode of delivery for these infants.  相似文献   

15.
Fifteen cases of the Dandy-Walker syndrome evaluated by prenatal sonography were reviewed retrospectively. A posterior fossa cyst communicating with the fourth ventricle was a feature in each case. Hydrocephalus was present in 53% of fetuses. Extracranial congenital malformations were documented in 60% of cases. Cardiac, genitourinary, gastrointestinal, and skeletal anomalies were noted. Of 12 available karyotypes, 4 (33%) were abnormal, including two cases of trisomy 18. Excluding terminated pregnancies, there was an overall mortality of 55%. Associated congenital defects contributed to 83% of the postnatal deaths. The Dandy-Walker syndrome can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes in the fetal posterior fossa. The prenatal examination should include an evaluation of associated supratentorial and extracranial defects. Coexisting structural and chromosomal anomalies occur frequently and adversely affect survival.  相似文献   

16.
OBJECTIVE: To assess the clinical significance of umbilical cord pseudocysts detected prenatally by sonography. METHODS: The prenatal sonographic findings, karyotype, and perinatal outcome in 13 fetuses with umbilical cord pseudocysts were reviewed retrospectively. RESULTS: Umbilical cord pseudocysts were diagnosed at a median gestation of 27 weeks (range 15-37). Pseudocysts were single in eight cases with cyst diameters ranging from 20 to 50 mm, and double in one case. In the remaining four cases, multiple small cystic masses measuring less than 8 mm were identified. Additional sonographic findings were noted in 11 cases; ten of these fetuses had prenatal karyotyping, which showed trisomy 18 in five cases, trisomy 13 in one case, and a 46,XX, inv ins(18;21) complement in one case. Among the seven chromosomally abnormal fetuses, umbilical cord pseudocysts were multiple in four fetuses and single in three. All chromosomally abnormal fetuses and two euploid fetuses with associated structural defects died in utero or in the neonatal period. There were no perinatal complications in either of the fetuses with isolated pseudocysts. CONCLUSION: The prenatal sonographic appearance of umbilical cord pseudocysts varied widely. These umbilical cord cystic masses were associated strongly with chromosomal disorders and structural defects, regardless of their sonographic appearance in utero.  相似文献   

17.
The purpose of this study was to identify prognostic factors and describe the outcome of prenatally detected renal anomalies associated with multiple malformations and chromosomal defects. Forty-one fetuses were included in the analysis. Prenatal ultrasound reports, neonatal records and autopsy information were retrospectively reviewed. Prognostic factors associated with fetal echography and clinical and laboratory findings on admission were studied. Data were analyzed by univariate analysis in which variables associated with adverse outcome were identified by the Chi-square test or Fisher exact test. The abnormalities associated with renal anomalies were divided into three groups: chromosomal defects (21%), previously described syndromes and conditions (24%), and new sporadic conditions (55%). Of 41 children admitted, 30 (76%) died during the perinatal period. The presence of oligohydramnios was significantly associated with an adverse outcome (OR=11, p=0.05). Male gender was a protective factor against death during the perinatal period (OR=0.11, p=0.01). In conclusion, prenatally detected renal anomalies associated with multiple malformations and chromosomal defects had a poor prognosis. The presence of oligohydramnios increased the risk of death, and male gender had a protective role against poor outcome.  相似文献   

18.
Peng R  Xie HN  Zhang Y  Luo YM  Li LJ  Zhu YX  Lin MF 《中华妇产科杂志》2011,46(11):845-849
目的 探讨产前超声指标评分法对胎儿18三体综合征的诊断价值.方法 采用前瞻性方法对2004年1月至2009年12月在中山大学附属第一医院行产前超声筛查孕妇中,发现胎儿结构或软指标异常者行胎儿染色体核型检查,根据胎儿染色体核型分析结果,分为18三体组和非18三体组.对两组胎儿任一异常超声指标进行单因素logistic回归分析,分别计算各超声指标的阳性似然比(+LR).+ LR≥200的超声指标赋值3分,100≤+LR <200的超声指标赋值2分,+LR<100的超声指标赋值1分.根据受试者工作特性( ROC)曲线,确定最佳诊断界值.结果 (1)符合入选标准孕妇共26 545例,产前超声检查可疑胎儿畸形或有超声软指标异常并接受胎儿染色体检查者共4044例,其中21三体93例,18三体59例,13三体19例,其他类型染色体异常134例,正常核型3739例.22 501例胎儿产前超声检查无异常,3985例胎儿出生后随访其结局也无异常,共计26 486例胎儿为非18三体组,59例18三体胎儿为18三体组.(2)18三体组59例胎儿均有2种及以上超声提示的结构异常,其中最常见为肢体异常(85%,50/59),其次是心脏畸形(83%,49/59)和中枢神经系统异常(75%,44/59).肢体异常中以重叠指最常见,心脏畸形中室间隔缺损最多见,中枢神经系统畸形中最常见为“草莓头”型.(3)经logistic回归分析,所有超声异常指标中可进入回归方程的是脉络膜囊肿、“草莓头”型、后颅窝池增宽、前脑无裂畸形、耳低置、室间隔缺损、左心发育不良综合征等16项,按照此16项超声指标的+LR值分别得出不同分值.(4)18三体组和非18三体组产前超声评分1分值分别为2% (1/59)和2.549%(675/26 486),4分值分别为9%( 5/59)和0.215% (57/26486),9分值分别为10%( 6/59)和0.004%( 1/26 486),10~16分值分别为32% (19/59)和0.(5)以不同总评分值为超声诊断18三体征的截断值,计算出各分值的敏感度和特异度,ROC曲线下面积为0.999.以总评分4分为最佳诊断值,诊断18三体征的敏感度为0.966,特异度为0.997.结论 超声指标评分法对18三体综合征具有较好的诊断价值,以4分作为诊断18三体综合征截断值其诊断效价最高.  相似文献   

19.
BACKGROUND/PURPOSE: Outcome for fetuses with prenatally detected congenital heart disease (CHD) and/or cardiac arrhythmias is important for prenatal counseling and perinatal management; however, there exists little literature regarding the outcome for CHD diagnosed in utero in Taiwan. Therefore, we attempted to investigate the outcome for fetuses with CHD and/or cardiac arrhythmias diagnosed prenatally at a tertiary care medical center in Taiwan. METHODS: Between January 1995 and December 2000, 339 patients referred to the National Taiwan University Hospital for fetal echocardiography were included in this study. Medical records were reviewed retrospectively to determine the salient clinical characteristics for all fetuses. RESULTS: CHD was found in 103 fetuses. Gestational age at diagnosis ranged from 17 to 40 weeks; in 37 cases (35.9%) the diagnosis was made before 24 weeks. Mean gestational age at diagnosis was 27.8 weeks. Of the 103 cases, 15 fetuses (14.6%) had major extra cardiac malformations and 15 fetuses (14.6%) had chromosomal abnormalities (five had both) and 30 pregnancies (29.1%) were terminated. Of the remaining 73 pregnancies, three (4.1%) of the fetuses died in utero and 28 (38.4%) postnatally, with 42 (57.5%) surviving. The mortality rates were both 60% in cases with extracardiac or chromosomal anomalies. Arrhythmias were identified in 25, and two pregnancies involving hydrops fetalis were terminated. Of the remaining 23 continued pregnancies, two (8.7%) with long QT syndrome expired postnatally. CONCLUSION: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.  相似文献   

20.
Failure to detect fetal obstructive uropathy by second trimester ultrasound   总被引:2,自引:0,他引:2  
The prenatal diagnosis, management and outcome of an hereditary obstructive uropathy is presented. Serial ultrasonic assessment of the fetal urinary tract was carried out from the early second trimester onward. Slight bilateral hydronephrosis as a first sign of obstructive uropathy was only established as late as 30 weeks of gestation. On the basis of weekly ultrasound scans, a conservative approach was adopted. In view of fetal maturity, labour was induced at 36 weeks resulting in the vaginal delivery of a male infant with moderate bilateral hydronephrosis. Neonatally, anuria developed due to bilateral obstruction of the ureters as a result of increasing bladder wall hypertrophy due to urethral valves. A bilateral uretero-cutaneostomy was carried out. The infant so far develops normally, and renal function is normal for age. Women at risk for fetal obstructive uropathy should have ultrasonic monitoring throughout pregnancy.  相似文献   

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