Prenatal diagnosis of ventriculo-coronary fistula in a late first-trimester fetus presenting with increased nuchal translucency.
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Abnormalities, Multiple↗
Biomedical subjects
R Chaoui
Publications and source records attributed to R Chaoui.
Prenatal diagnosis of an aneurysm of the vein of Galen with three-dimensional color power angiography.
The prenatal diagnosis of an aneurysm of the vein of Galen has been reported on only a few occasions. This rare arterio-venous fistula is suspected when an intracerebral hypoechoic cyst is found in which blood flow can be demonstrated by Doppler ultrasound. This is one of the few conditions where Doppler ultrasound is critical for the diagnosis. Three-dimensional color power Doppler (3D-CPA) is a recent ultrasound modality which enables the three-dimensional visualization of vessels and which is more readily available than magnetic resonance imaging (MRI) We report a fetus in which an aneurysm of the vein of Galen was detected at 33 weeks' gestation and where the application of 3D-CPA enabled a better understanding of the spatial orientation and course of the dilated vessels. The neonate was successfully treated with coil angiography but subsequently died at 5 months of age from cardiac decompensation. Where fetal malformations involve the vascular system, 3D-CPA appears to be a promising technique.
Adult↗
Prenatal depiction of the angioarchitecture of an aneurysm of the vein of Galen with three-dimensional color power angiography.
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Cerebral Veins↗
Prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.
We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. Echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. Color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.
Adult↗
Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.
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Abnormalities, Multiple↗
Significance of autoantibodies in neonatal lupus erythematosus.
Autoantibodies produced by the mother and transported into the fetal circulation are of significant importance in the diagnosis of neonatal lupus syndromes. These humoral autoimmune findings provide an unique opportunity to assess the pathogenic role of autoantibodies against the Ro(SS-A)/La(SS-B) complex, most notably for congenital heart block. Current knowledge about the involved autoantibody-autoantigen systems, including recent therapeutic concepts of these autoimmune syndromes, is summarized.
Animals↗
Prenatal diagnosis of congenital varicella syndrome and detection of varicella-zoster virus in the fetus: a case report.
Varicella syndrome (VS) specific malformations were sonographically seen at 22 weeks and 3 days of gestation. Fetal infection was demonstrated by detection of varicella-zoster virus (VZV) DNA in fetal blood and amniotic fluid by polymerase chain reaction (PCR). Following therapeutic abortion, fetal infection was confirmed by detection of VZV DNA in several fetal tissues and placenta, and by histopathological findings like miliary calcified necroses in fetal organs.
Abortion, Therapeutic↗
Ultrasound measurements of the diameter of the fetal trachea, larynx and pharynx throughout gestation applicability to prenatal diagnosis of obstructive anomalies of the upper respiratory-digestive tract.
The purpose of the present study was to obtain normative data for the fetal upper respiratory tract by using high-resolution ultrasound techniques. Furthermore, we wanted to test the potential utility of the resulting normograms in diagnosing obstructive lesions of the trachea and oesophagus. Sonographic measurements of the diameters of the trachea, larynx and pharynx were obtained at well-defined planes from a prospective cross-sectional sample of 198 normal patients of known gestational age between 15 and 40 weeks' gestation. All measurements were performed during fetal apnea and in the absence of swallowing. The same measurements were also obtained from two cases with laryngeal atresia and three cases with oesophageal atresia, all of which were diagnosed prenatally. The data obtained were plotted on the constructed normograms. In normal fetuses approximately linear relationships existed between tracheal, laryngeal and pharyngeal diameter, on the one hand, and gestational age, on the other, with the measurements correlating significantly (p<0.0001) with gestational age. The linear regression coefficients (r2) for the tracheal, laryngeal and pharyngeal diameters were 0.66, 0.55 and 0.32, respectively. The 95 per cent prediction limits were also calculated. In fetuses with laryngeal atresia only the tracheal diameter was significantly higher as compared with that of normal fetuses. Data of the fetuses with oesophageal atresia showed that there were no changes in the upper airway anatomy. Our study provides normative data for the upper respiratory tract. In the prenatal diagnosis of obstructive neck anomalies the usefulness of the data would seem to be limited to those affecting the respiratory tract. Among the structures measured, only the trachea may prove to be of clinical significance.
Cross-Sectional Studies↗
[Early operation of acute cholecystitis in advanced age].
In a 20-year period (1974-1993), 4230 patients underwent surgery of the gallbladder. Acute cholecystitis was the indication for emergency laparotomy in 869 patients (20.5%). Retrospective analysis demonstrated that after adjustment for age, sex, and mode of surgery--elective versus emergency--advanced age is not a risk factor contributing to mortality in uncomplicated cases of emergency surgery. Cases of acute cholecystitis complicated by perforation, peritonitis, and/or the presence of concrements in the biliary duct are associated with an increased mortality, however. We were able to demonstrate that advanced age is a risk factor in complicated cases and contributes to increased postsurgical mortality.
Acute Disease↗
Pulmonary arterial Doppler velocimetry in fetuses with lung hypoplasia.
OBJECTIVE: The aim of the study was to examine Doppler flow velocity waveforms in the main stems of the pulmonary arteries in fetuses with autopsy-proven lung hypoplasia and to find out whether in these conditions typical patterns can be found. STUDY DESIGN: Doppler spectra were derived from the main stem of the right or left pulmonary artery in fetuses at high-risk for lung-hypoplasia. The following Doppler parameters were analyzed and compared to reference ranges: peak systolic velocity, acceleration time, time velocity integral, end-systolic reverse flow, pulsatility index (PI). Pulmonary hypoplasia was found in nine cases at autopsy after termination of pregnancy (19-23 weeks). According to etiology, three groups were considered: (A) bilateral renal malformations (n=4), (B) congenital diaphragmatic hernia (n=2), and (C) miscellaneous malformations including heart defects (n=3). RESULTS: The following Doppler parameters were found: normal values in end-systolic reversal flow in all cases, decreased peak systolic velocity and acceleration time in 3/9, decreased time velocity integral in 4/9 and increased pulsatility index in 6/9. Considering the etiology of pulmonary hypoplasia the pulsatility index was found to be the most sensitive, since all fetuses in groups A and B had an abnormal PI. CONCLUSIONS: Human fetuses with renal malformations and diaphragmatic hernia associated with lung hypoplasia show as early as 19-23 weeks of gestation an abnormal Doppler spectrum in the main stems of the pulmonary arteries. Increased PI is the best parameter to detect flow abnormality in this condition. Since the Doppler spectrum depends on cardiac anatomy and function, PI in lung hypoplasia seems to be reliable only when cardiac defects are absent.
Blood Flow Velocity↗
Diagnosis of twin reversed arterial perfusion sequence in the first trimester by transvaginal color Doppler ultrasound.
A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber.
Abnormalities, Multiple↗
[Prenatal diagnosis of heart defects and associated chromosomal aberrations].
AIM: According to epidemiological studies on newborns, the association of congenital heart defects with chromosomal anomalies varies between 4 and 12%. Prenatally this rate is probably higher, due to antenatal death occurring in fetuses with chromosomal aberrations. The aim of the study was therefore to determine the rate and the distribution of chromosomal aberrations in prenatally detected heart defects. PATIENTS AND METHOD: Within a period of 7 years fetal echocardiography was performed on 2716 fetuses at high risk for CHD. The analysis of the fetal heart was achieved by the visualization of different planes. Once a heart defect was detected, karyotyping was performed after amniocentesis, cordocentesis or chorion villous sampling, or in a few cases postnatally from cord blood. Prenatal ultrasound findings were confirmed postnatally by ultrasound examination or, in case of abortion, stillbirth or neonatal death, by autopsy. RESULTS: A total of 203 fetal heart malformations were detected and 46 of them (22%) had associated chromosomal anomalies. 60% of all cases and 80% of the study group had extracardiac anomalies. Only eight out of the 46 pregnant women (17.5%) were older than 35 years. Eight out of the 15 fetuses with trisomy 18 had a ventricular septal defect, 9/13 fetuses with trisomy 21 had an atrioventricular septal defect and all 5 fetuses with monosomy X had a left heart outflow obstruction. No typical cardiac defects were found in the remaining 13 fetuses (5 trisomy 13, 2 triploidies, 6 miscellaneous). Of the 13 live births (23 terminations of pregnancy and 10 intrauterine deaths) 6 children survived (46% and overall survival rate 13%). The following rates of associations with aneuploidies were found: atrioventricular septal defect 55%, ventricular septal defect and aortic coaction both 43%, tetralogy of Fallot and double outlet right ventricle both 36%. In comparison, fetuses with isomerism, transposition of the great arteries and pulmonary atresia or stenosis had normal chromosomes. CONCLUSION: We conclude that the rate of association of heart defects and chromosomal abnormalities is higher prenatally than in the neonatal period and is approximately 22%. After detecting a fetal cardiac malformation, karyotyping is mandatory for the further management of pregnancy. The likelihood of detection of an aneuploidy increases when some typical heart defects are detected or when an association with extracardiac anomalies is found.
Amniocentesis↗
Enhanced frequency of autoimmune congenital heart block in female offspring.
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Autoimmune Diseases↗
Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study.
OBJECTIVE: To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. MATERIAL: Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed. RESULTS: Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%). CONCLUSIONS: Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy.
Abortion, Spontaneous↗
Angiomyxoma of the umbilical cord in one twin with cystic degeneration of Wharton's jelly. A case report.
We report the prenatal diagnosis of an angiomyxoma of the umbilical cord in a female fetus of a dizygotic twin pregnancy. The pregnant woman was hospitalized at 18 weeks for exclusion of a suspected exomphalos. Using high-resolution ultrasound and color doppler, the umbilical tumor (8 x 5 x 4 cm) was suspected to be an angiomyxoma without malformations in the fetus. Neither chromosomal aberrations nor elevated alphafetoprotein were found after amniocentesis. Serial examinations showed an increase in the size of the cystic mass without deterioration of the fetal condition. Macroscopical and microscopical examinations of the tumor performed after delivery revealed an angiomyxoma with cystic degeneration of Wharton's jelly. Tumors of the umbilical cord are rare anomalies and should be considered when using prenatal ultrasound for detection of cystic lesions.
Adult↗
Correlation of prenatal ultrasound diagnosis and morphological findings of fetal autopsy.
The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system anomalies, 42 genitourinary system anomalies, 18 respiratory system anomalies, 8 skeleton system anomalies, 6 gastrointestinal system anomalies and 11 other abnormalities. Of the total number of cases, 41% had multiple malformations. In 144 cases (78%), the prenatal diagnosis was confirmed by autopsy, in 36 cases (20%) the prenatal diagnosis was confirmed with additional significant pathology, and in only 3 cases (2%) the prenatally detected malformation was not confirmed by pathological examination. Autopsy remains an important component of the evaluation of fetal losses after induced abortion.
Autopsy↗
The upper neck pouch sign: a prenatal sonographic marker for esophageal atresia.
Prenatal suspicion of esophageal atresia is usually based on the finding of a small or absent fetal stomach in association with polyhydramnios. As similar findings may be generated by other abnormalities, confirmation of the diagnosis is generally not possible until birth. We present a case in which the suspicion of esophageal atresia was raised in the 22nd week of pregnancy in the presence of a small stomach bubble associated with a persistent left superior vena cava. The diagnosis was confirmed 4 weeks later by direct visualization of the fluid-filled blind-ending esophagus during fetal swallowing, which we called the upper neck pouch sign. This is the first case in which the onset of this sonographic entity was specifically observed on serially repeated sonograms as early as the 22nd week. The appearance of this direct sign of esophageal atresia is described, and the literature is reviewed.
Adult↗
Doppler echocardiography of the main stems of the pulmonary arteries in the normal human fetus.
The objective of this study was to describe the normal blood flow velocity waveforms in the main branches of the right and left pulmonary arteries in the human fetus and to establish reference ranges for different Doppler parameters during the second half of pregnancy. Cross-sectional data were collected from 86 healthy human singleton fetuses between 18 and 38 weeks of gestation. With advancing gestation a significant increase (p < 0.001) in the peak systolic velocity, time averaged velocity and time velocity integral was observed. The pulsatility index decreased significantly (p < 0.05) in the same period, suggesting a decrease in the pulmonary arterial vascular resistance. The acceleration time (AT) and the ratio of AT to ejection time (AT/ET), described in postnatal cardiology as having an inverse correlation with mean arterial pressure, increased significantly (p < 0.001). This is possibly the result of decreased pulmonary arterial pressure. The data show that Doppler examination of blood flow in the main stem of both the right and the left pulmonary arteries of the fetus is feasible, and increases insight into the lung perfusion of the human fetus. The observed changes throughout gestation are in accordance with animal experiments showing an increase in perfusion as well as a decrease in the vascular resistance and pressure.
Blood Flow Velocity↗