Diagnóstico prenatal de estenosis aórtica crítica y fibroelastosis endocárdica

Endocardial fibroelastosis is characterized by a diffuse thickenning of the ventricular endocardium. The cause and natural history of endocardial fibroelastosis is uncertain and controversial. Prognosis of endocardial fibroelastosis is variable and use to be severe. Prenatal diagnosis has been reported in a few cases, predominantley detected in the second and third trimester. Here we report the prenatal diagnosis of critical aortic estenosis and endocardial fibroelastosis at 26^th weeks of gestational age.     

Prenatal sonographic diagnosis of endocardial fibroelastosis secondary to aortic stenosis

Endocardial fibroelastosis is characterized by a diffuse thickening of the left ventricular endocardium with or without other cardiac anomalies. This entity had been diagnosed prenatally previously (Bovicelli et al., 1984) at a gestational age of 36 weeks. A case of endocardial fibroelastosis due to aortic stenosis accompanied by pericardial effusion, ascites, and hydramnion, diagnosed ultrasonographically and confirmed pathologically at 21 weeks of gestation, is presented.     

Peripartum congestive cardiomyopathy and endocardial fibroelastosis associated with ritodrine treatment. A case report

Congestive cardiomyopathy from endocardial fibroelastosis occurred in a 24-year-old primigravida with a twin gestation and preeclampsia. The patient was taking ritodrine for premature labor. Cardiovascular evaluation should be performed during the course of ritodrine treatment, and no patient should be discharged if she does not have normal cardiovascular function.     

Fetal cardiomyopathy--in utero evaluation and clinical significance

OBJECTIVE: To describe the prenatal diagnosis and outcome of fetal cardiomyopathy (CM). METHODS: The charts, photographs and videotapes of all fetuses with CM, who were assessed during pregnancy at two referral centers, were reviewed. RESULTS: The diagnosis of CM was established in 12 fetuses. All had structurally normal hearts, and all cases were diagnosed after 23 weeks of gestation, following normal early fetal echocardiogram. Three clusters of fetal CM appeared: Familial--two sib fetuses of a mother, who is a second generation of CM. Both had dilated CM and pathological findings were consistent with the diagnosis of endocardial fibroelastosis. Secondary--CM that was induced by another factor. Idiopathic--six cases of CM without an underlying specific etiology. Three women elected to terminate their pregnancy. Among the nine who delivered, four had a favorable outcome with normal cardiac function at the age of 1 month, in which three belonged to the secondary category, and five cases were complicated by fetal/infant death. CONCLUSIONS: CM may develop during fetal life and might be diagnosed by prenatal echocardiography. Normal cardiac findings in a midtrimester fetus do not exclude subsequent development of CM. Detailed prenatal sonographic examination may aid in determining the neonatal outcome.     

Evolution of left ventricular diseasein the fetus. Case report

A fetal case is described that showed a rapid progression from the features of initial left ventricular fibroelastosis at 20 weeks of gestation to a more marked dilation at 22 weeks and finally to a hypoplastic left ventricle with aortic stenosis at 24 weeks of gestation. This case confirms the evolutive character of left ventricular disease during fetal life.     

First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

ObjectiveTo present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis–van Creveld (EvC) syndrome.Case ReportA 35-year-old woman was referred for genetic counseling at 13 weeks of gestation because of a family history of skeletal dysplasia. She had experienced one spontaneous abortion, and delivered one male fetus and one female fetus with EvC syndrome. During this pregnancy, a prenatal transabdominal ultrasound at 13⁺⁴ weeks of gestation revealed a nuchal translucency (NT) thickness of 2.0 mm, an endocardial cushion defect, postaxial polydactyly of bilateral hands, and mesomelic dysplasia of the long bones. Amniocentesis was performed at 13⁺⁵ weeks of gestation. Results of a cytogenetic analysis revealed a karyotype of 46,XX and that of a molecular analysis revealed compound heterozygous mutations of c.1195C>T and c.871-2_894del26 in the EVC2 gene. Prenatal ultrasound at 16 weeks of gestation showed a fetus with short limbs, an endocardial cushion defect, and postaxial polydactyly of bilateral hands. The parents decided to terminate the pregnancy, and a 116-g female fetus was delivered with a narrow thorax, shortening limbs, and postaxial polydactyly of the hands.ConclusionPrenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib–polydactyly syndrome, Bardet–Biedl syndrome, orofaciodigital syndrome, Smith–Lemli–Opitz syndrome, and hydrolethalus syndrome.     

Fetal echocardiography. VII. Doppler color flow mapping: a new technique for the diagnosis of congenital heart disease

One of the difficulties for the fetal sonographer is the complete elucidation of structural defects of the cardiovascular system that are associated with intracardiac or great vessel flow disturbances. With the recent introduction of Doppler color flow mapping, in which blood flow is displayed in color superimposed on a real-time image, it has been impossible to identify flow disturbances in the pediatric and adult patient. This study was undertaken to determine whether Doppler color flow mapping could be used in the fetus to identify normal and abnormal cardiovascular anatomy. Thirty-five normal and high-risk fetuses were examined between 16 and 40 weeks of gestation. Doppler color flow mapping identified normal and abnormal anatomy (ventricular septal defect, atrial septal defect, endocardial fibroelastosis, dysplastic pulmonary valve, and tricuspid regurgitation). It appears that Doppler color flow mapping will add a new dimension to fetal cardiovascular imaging.     

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.     

小儿左冠状动脉起源于肺动脉所致心脏扩大22例误诊分析

摘要：目的　探讨小儿左冠状动脉起源于肺动脉（ALCAPA）所致心脏扩大病例的误诊原因,总结诊断经验。 方法　回顾性分析1996年7月至2009年1月广东省心血管病研究所22例小儿ALCAPA所致心脏扩大的误诊病例。均行心电图、X线胸片、超声心动图检查,8例行心脏CT检查,14例行心导管检查及造影,21例进行了外科手术治疗。 结果　≤ 1岁患儿10例中,6例误诊为心内膜弹力纤维增生症,3例误诊为扩张型心肌病,1例误诊为先天性二尖瓣脱垂并关闭不全。 > 1岁患儿12例中,4例误诊为扩张型心肌病,3例误诊为心内膜弹力纤维增生症, 2例误诊为先天性二尖瓣脱垂并关闭不全,1例误诊为右冠状动脉右心室瘘,1例误诊为川崎病,1例误诊为动脉导管未闭。 结论　小儿ALCAPA所致心脏增大病例容易误诊为心内膜弹力纤维增生症、扩张型心肌病、先天性二尖瓣脱垂等疾病,左冠状动脉起源于肺动脉后方偏右的病例更易误诊。提高对ALCAPA的认识、超声或CT检查中仔细探查冠状动脉及其起源对避免误诊至关重要。     

组织同步化成像评价心内膜弹力纤维增生症左心室同步性的研究

探讨组织同步化成像（TSI）评价心内膜弹力纤维增生症（EFE）左心室心肌收缩和舒张运动的同步性应用价值。方法　2007年5月至2008年3月重庆医科大学附属儿童医院收住EFE患儿16例,治疗前和治疗后6个月分别采用TSI测量左心室各节段长轴方向的收缩达峰时间（TS）,舒张早期达峰时间（TE）。计算12节段TS和TE的标准差（TS-SD和TE-SD）,评价左心室收缩舒张同步性。对照组为同期整形外科和骨外科住院患儿20例。结果　（1）EFE组治疗前TS-SD高于对照组及EFE组治疗后,差异均有统计学意义。（2）EFE组TE-SD高于对照组,差异有统计学意义;治疗前后TE-SD差异无统计学意义。（3）EFE组左心室收缩功能明显低于对照组,治疗后有明显好转。结论　EFE患儿左心室存在以收缩不同步为主的失同步化运动,TSI检测可无创、快速定量评价左心室同步性。     

Prenatal diagnosis of placental hemangioma--clinical implication: a case report

Placental hemangioma is considered to be associated with a high rate of maternal and fetal complications. We report a case where ultrasonography revealed the placental tumor at 28 weeks gestation. The patient was kept under strict surveillance which permitted diagnosis of pre-eclampsia at 34 weeks gestation with successful termination of pregnancy at 37 weeks. The ultrasonic features of the tumor are described and the clinical implication discussed.     

Sonographic markers of exencephaly below 10 weeks' gestation

We report two cases of exencephaly diagnosed by transvaginal ultrasonography at 8 weeks 4 days and at 9 weeks 3 days of gestation. Both cases presented an irregular cephalic pole, and, in the case seen at 8 weeks 4 days, brain vesicles were also absent, whereas in the case seen at 9 weeks 3 days, the midline echo was indistinguishable with disorganized choroid plexuses. In both cases, anencephaly was evident at 11 and 12 weeks' gestation and the postmortem confirmed the diagnosis.     

Choledochal cyst diagnosed and conservatively treated during pregnancy

We report herein a rare case of choledochal cyst diagnosed at 14 weeks gestation and treated with percutaneous transhepatic drainage until postpartum. A 26-year-old primigravid woman at 14 weeks gestation presented with epigastric pain, slight fever, and nausea of 3 days duration. Abdominal ultrasonography revealed a 6-cm-diameter cystic mass between the porta hepatis and the pancreas head, which was diagnosed as a type I choledochal cyst. At 18 weeks of gestation, her upper abdominal pain became severe, and the size of the choledochal cyst increased to 12 cm in diameter. Laboratory data revealed a biliary obstruction. Percutaneous transhepatic drainage was performed immediately. She delivered a healthy male baby by elective cesarean section at 37 weeks of gestation. At 6 weeks postpartum, the patient underwent surgical excision of the choledochal cyst, cholecystectomy, and formation of a Roux-en-Y hepaticojejunostomy. Although choledochal cysts are rare during pregnancy, obstetricians should be familiar with the condition to ensure prompt diagnosis and adequate definitive management, given that the implications of missed or delayed diagnosis may be detrimental to both mother and fetus.     

Late terminations of pregnancy following second trimester amniocentesis

We sought information from 34 chromosome laboratories in Britain about the frequency during 1982 of late amniocentesis, late reports of prenatal diagnosis results and late resultant terminations of pregnancy. Thirty-one laboratories provided data on a total of 20 840 pregnancies. Gestational age at report was recorded in 14 795 and 510 subsequent terminations of pregnancy were recorded. The data were subdivided into three categories according to the primary indication for amniocentesis: (i) the detection of chromosomal abnormalities, (ii) risk of neural-tube defect, (iii) 'other' reasons. Overall 4.0% of diagnostic amniocenteses were performed at greater than or equal to 21 weeks, 12.7% of reports were made at greater than or equal to 22 weeks gestation, and 13.1% of terminations were performed at greater than or equal to 22 weeks. Late amniocentesis (greater than or equal to 21 weeks) occurred nearly five times more often when the primary indication was the detection of neural tube defects than when it was the detection of chromosomal abnormalities. Approximately two-thirds of 'late' terminations were performed after amniocentesis at greater than or equal to 19 weeks gestation. A total of 3896 (26.3%) of women undergoing prenatal diagnosis had to wait until greater than or equal to 21 weeks gestation before a report was available.     

Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation

Holoprosencephaly is a congenital anomaly characterized by lack of cleavage of the prosencephalon. Although, relatively rare, it is the most common anomaly that involves both the brain and the face. Prenatal diagnosis of this anomaly using ultrasonography, particularly of the less severe forms, is difficult. Magnetic resonance imaging has recently become an important complement to US in prenatal diagnosis of CNS anomalies. We herein report a patient in whom, at 23 weeks of gestation, US suggested agenesis of the corpus callosum and in whom, at 24 weeks of gestation, MRI correctly diagnosed lobar holoprosencephaly, which was confirmed by a postnatal MRI at 3 weeks of age.     

Fetal meconium peritonitis in single and twin pregnancy. Two cases report

We present two cases of fetal meconium peritonitis in a single and twin pregnancy, respectively. The first case diagnosis was made at 30 weeks and was confirmed after delivery of the twins by cesarean section at 37 weeks. The second case diagnosis was made at 31 week and was confirmed at 37 weeks. Meconium peritonitis is a rare prenatal complication that results from intrauterine perforation of small bowel with spillage of sterile meconium into peritoneal cavity. We now report two cases of meconium peritonitis diagnosed at 30 and 31 weeks gestation. Received: 20 March 2001 / Accepted: 13 June 2001     

Early prenatal diagnosis of genetic microcephaly

We report a new case of prenatal diagnosis of recessive microcephaly by ultrasound examination allowing termination of pregnancy at 25 weeks gestation.     

Use of the mitral valve-tricuspid valve distance as a marker of fetal endocardial cushion defects

OBJECTIVE: The purpose of this study was to compare the mitral valve-tricuspid valve distance in second-trimester fetuses with normal cardiac anatomy versus those fetuses with endocardial cushion defects. STUDY DESIGN: We identified fetuses between 16 and 24 weeks of gestation. The distance between the insertions of the medial leaflets of the mitral and tricuspid valves were obtained. Linear regression curves were generated. RESULTS: The mean mitral valve-tricuspid valve distance for 86 fetuses with normal cardiac anatomy was 2.02 mm, compared with 0.37 mm in 13 fetuses with endocardial cushion defects ( P = .0001). Linear regression curve correlating mitral valve-tricuspid valve distance with gestational age showed a gradual slope (R 2 = 0.28; P < .0001). With a mitral valve-tricuspid valve distance < 5th percentile as a marker for the diagnosis of endocardial cushion defect gave a sensitivity of 69.2%, a specificity of 100%, a positive predictive value of 100%, a negative predictive value of 95.6%, and a false-positive rate of 0% ( P = .0001). CONCLUSION: The mitral valve-tricuspid valve distance is useful clinically in the detection of endocardial cushion defects in second-trimester fetuses.