To evaluate the accuracy of the prenatal diagnosis of right isomerism and to assess possible diagnostic and prognostic markers.Retrospective review of all cases of right isomerism identified between 1989 and 2003 in two tertiary referral centres in Germany.Among 21 foetuses, 16 had a correct prenatal diagnosis of right isomerism. 19 showed different types of viscerocardiac heterotaxy, 12 of them in combination with juxtaposition of vena cava inferior and aorta. 20 had cardiac defects, with a high prevalence of atrioventricular septal defect (CAVSD) (62 %), right outflow tract obstruction (48 %), anomalous pulmonary venous return (33 %) and double outlet right ventricle (29 %). 4 out of 6 cases with total anomalous pulmonary venous return were overseen on prenatal ultrasound. Only 6 children survived. The highest loss occurred in the neonatal period. Two out of 6 survivors underwent single ventricle palliation, while another two had a biventricular repair. One child is awaiting mitral valve replacement. The remaining case has no cardiac defect and lives with supraventricular re-entry tachycardia. Only the presence of CAVSD was significantly correlated with non-survival (p < 0.05).The prenatal diagnosis of right isomerism remains a difficult task. Important sonographic markers are viscerocardiac heterotaxy, complex cardiac malformations and juxtaposition of vena cava inferior and aorta. Special attention has to be paid to the pattern of pulmonary venous drainage, as it is often misdiagnosed. The mortality in neonates is high, especially in the presence of CAVSD. Survivors suffer from significant morbidity.
A 35-year-old Caucasian primigravida was referred at 25 + 0 weeks' gestation with the diagnosis of a fetal heart tumor. B-mode sonography demonstrated a large, partly solid and partly cystic tumor arising from the surface of the right atrium next to the heart base and a massive pericardial effusion (distance from the heart to the pericardium, 10 mm; Figure 1). The tumor itself measured 28 × 21 × 29 mm. Based on the typical appearance and location a tentative diagnosis of pericardial teratoma was made. Four-chamber view demonstrating the teratoma arising from the surface of the right atrium. Massive pericardial effusion is also evident. The cardiothoracic circumference ratio was 0.56 (heart biometry included neither the teratoma nor the effusion) and sequential analysis of the cardiac anatomy revealed no further anomalies. There were no signs of congestive heart failure at the time of the first presentation. Thus there was no atrioventricular (AV) valve insufficiency and ascites; the flow profiles in the ductus venosus were normal (pulsatility index for veins (PVIV)—defined as (systole—a-wave)/diastole—was 0.596); and there was a normal amount of amniotic fluid (amniotic fluid index (AFI) was 20.6 cm). Follow-up sonograms at weekly intervals showed an increase in the pulsatility indices of the ductus venosus (PVIV, 0.721) as well as an increase in the amount of amniotic fluid (AFI, 24.2 cm) at 26 + 2 weeks' gestation. At 28 + 2 weeks' gestation growth of the tumor (now measuring 24 × 38 × 33 mm) was noticed as well as the presence of ascites and an increase of pulsatility in the ductus venosus blood flow pattern (PVIV, 1.00). A pericardiocentesis was performed under sonographic guidance and 28 mL of bloody serous pericardial effusion were drained. Four days later there was no refilling of the pericardial effusion, the Doppler indices in the ductus venosus improved (PVIV, 0.543) and the ascites resolved. The situation remained stable until 30 + 1 weeks' gestation, when high pulsatilities in the ductus venosus and polyhydramnios prompted a further pericardiocentesis, with drainage of 40 mL of pericardial effusion. Concomitantly 1.5 L of amniotic fluid were drained. These measures were again followed by an immediate improvement in the Doppler parameters in the ductus venosus. In the following weeks another three pericardiocenteses (62 mL at 31 + 1 weeks; 52 mL at 32 + 0 weeks; and 100 mL at 32 + 6 weeks) and amniotic fluid drainages (1.5 L at 31 + 1 weeks; 1.6 L at 32 + 1 weeks; and 1.35 L at 32 + 6 weeks) were performed, each time resulting in a decompression of the heart and improvement of the fetal cardiac function indicated by prompt normalization of the pulsatility in the ductus venosus and rapid disappearance of ascites. At 34 weeks' gestation an elective Cesarean section was performed. A female newborn was delivered, with the following characteristics: weight, 2500 g; length, 49 cm; Apgar scores, 4, 7 and 8 at 1, 5 and 10 min, respectively; umbilical artery pH, 7.29; and base excess of − 2.9 mmol/L. After delivery echocardiography confirmed the diagnosis of a large pericardial effusion and a tumor measuring 41 × 50 × 41 mm, which seemed to be attached to the surface of the right atrium. After draining 50 mL of serous effusion from the pericardium, the neonate could be stabilized. Three-dimensional (3D) echocardiography was performed showing a tumor positioned at the right anterior hemithorax, displacing the heart dorsocaudally, thereby compressing the inflow of the vena cava, right atrium and right ventricle. In the following days increasing cardiac compression resulted in arterial hypotension, pleural effusion and ascites, therefore cardiac surgery was performed on day 4. The tumor, which was attached to the aortic root by a broad pedicle, could be excised, leaving 1–2 mm of tumor tissue remaining close to the origin of the right coronary artery. Histological examination revealed mature endodermic, mesodermic and neurodermic germinal layers and less than 10% immature neuroglial elements, therefore confirming the prenatal diagnosis of a pericardial teratoma. After 12 months' follow-up, during which neither echocardiography nor tumor markers have shown any evidence of recurrence, the patient remains well. Most fetal and newborn cardiac tumors are histologically benign. Rhabdomyomas comprise most of the prenatally diagnosed tumors. Next in frequency are lymphangioma, teratoma and fibroma1, 2. Because of their location, cardiac tumors may severely compromise blood flow and interfere with cardiac function, and may cause arrhythmias, stillbirth, or sudden death3. A cardiac tumor may also cause congestive heart failure and hydrops, leading to stillbirth4. Cardiac teratomas are rare and account for less than 2% of cardiac tumors in pediatric patients, but are often detected antenatally. They originate from either the pericardium or within the heart. Most occur in the pericardial cavity and are attached to the great vessels, and a few arise from within the myocardium of the atrium or ventricle5. Typically, intrapericardial teratomas are attached to the root of the pulmonary artery and aorta and compress the adjacent atrium or ventricle depending on their size. The tumors range in size from 2 to 9 cm in diameter6. The main presenting findings in the fetus or neonate with a pericardial teratoma are a tumor on imaging studies and a pericardial effusion7, 8. The tumor and/or pericardial effusion can impede venous return and cause cardiac tamponade, resulting in fetal hydrops and stillbirth9-11. The development of fetal hydrops requires treatment by early delivery, in-utero pericardiocentesis, or fetal surgery depending on the gestational age, the anatomy of the teratoma, and the degree of cardiac decompensation9, 12, 13. A recently published review of the literature14 revealed 31 cases of prenatally diagnosed pericardial teratoma, of which 77% developed concomitant hydrops. In 11 cases pericardiocenteses were performed in utero with subsequent improvement of the cardiac function. Seven of the 31 mothers decided to terminate the pregnancy, 10 of the affected fetuses died perinatally and 14 patients survived the neonatal period. All the surviving newborns underwent surgical resection of the tumor postpartum. The survival rate in this cohort was significantly dependent on the presence or absence of hydrops or other signs of cardiac insufficiency. Our case demonstrates that repeated pericardiocenteses in fetuses with a pericardial teratoma are followed by prompt improvement of the cardiac function that can be assessed by spectral Doppler of the ductus venosus, and result in rapid resolution of hydrops. Furthermore, worsening of the Doppler indices of the ductus venosus can be used to assess the appropriate time points for pericardiocentesis and other interventions. D. Kamil*, A. Geipel*, C. Schmitz , J. Breuer , U. Herberg , G. Knöpfle§, U. Gembruch*, C. Berg*, * Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany, Department of Cardiac Surgery, University of Bonn, Germany, Department of Pediatric Cardiology, University of Bonn, Germany, § Institute for Pathology, University of Bonn, Germany
Einleitung Parvovirus (PV) B19 kann während der gesamten Schwangerschaft transplazentar übertragen werden. Die Infektion führt am häufigsten im zweiten. Trimenon zu einer Lyse der erythropoiden Vorläuferzellen, selten kommt zu einer aplastische Anämie mit konsekutivem Hydrops fetalis. Wir berichten über das Management einer PV B19 Infektion im I. Trimenon.
The effect of isosorbide dinitrate (ISDN) on maternal and fetal circulation was assessed in 23 women with pregnancy induced hypertension (PIH). A double-blind randomized design was employed. Each woman was given a sublingual tablet of ISDN (5 mg) or placebo. Maternal blood pressure (BP) and heart rate (HR) were measured before and every 2 min after the medication or placebo, for a total of 20 min. Flow velocity waveforms in the uterine and umbilical arteries were recorded at the same time periods, using pulsed Doppler ultrasound. The ratio of peak systolic to end-diastolic flow velocity (S/D) in those vessels was calculated. After ISDN mean maternal BP fell from 103 +/- 1.8 mm Hg to 90.5 +/- 2.9 mm Hg at 14 min (P < .0001) and mean maternal HR increased from 97.3 +/- 3.8 beats/min to 115.7 +/- 3.5 beats/min at 12 min (P < .0001). The mean S/D in the umbilical artery fell from 3.07 +/- 0.33 to 2.58 +/- 0.23 at 8 min (P < .0007). The mean S/D in the uterine artery fell from 3.27 +/- 0.6 to 2.38 +/- 0.28 at 10 min (P < .0001). In seven of 12 women with an early diastolic notch in the uterine artery flow velocity waveform the notch diminished or disappeared within the first 6 min after the medication. No significant change in any of the measured parameters was observed in the placebo group. Our finding that ISDN altered maternal and fetal hemodynamics in PIH lends support to the further exploration of nitric oxide donors in the treatment and prevention of pregnancy induced hypertension.
The purpose of this study was to evaluate the accuracy of the prenatal diagnosis of left isomerism and to assess possible diagnostic and prognostic markers.We conducted a retrospective review of all previously unpublished cases of left isomerism diagnosed in the prenatal and postnatal periods in 2 tertiary referral centers in Germany over 15 years.Among 34 fetuses, 31 had a correct prenatal diagnosis of left isomerism; 31 had an interruption of the inferior vena cava with azygos continuation; 22 had different types of viscerocardiac heterotaxy; 13 had heart block; and 28 had cardiac defects, with a high prevalence of atrioventricular septal defects (n = 24), right outflow tract obstruction (n = 11), double-outlet right ventricles (n = 6), and anomalous pulmonary venous return (n = 6). Among the 34 cases, 9 underwent termination of pregnancy; 2 fetuses died in utero; 5 children died in the neonatal period; and 4 children died in infancy. Only the presence of heart block and hydrops was significantly correlated with nonsurvival (P < .05). Fourteen children survived, with a mean follow-up +/- SD of 2.9 +/- 2.6 years. Three survivors underwent single-ventricle palliation, and 1 had successful biventricular repair. Three children were awaiting cardiac repair. The remaining 7 children had minor or no associated cardiac defects and were doing well.Prenatal diagnosis of left isomerism is feasible, with high accuracy. Important diagnostic pointers are viscerocardiac heterotaxy, complex cardiac malformations, heart block, and interruption of the inferior vena cava. The mortality in fetuses and neonates is high in the presence of heart block and hydrops, whereas the cardiac defects influence the long-term outcome.
First trimester screening for aneuploidy has been proposed as a major improvement because of higher detection rates and an earlier gestational age at diagnosis. To evaluate the possible influence of first trimester examination on the time of diagnosis in cases with trisomy 21 in a referral center. Retrospective database analysis of all cases with trisomy 21 over a 4-year period (2003–2006). The studied population consisted of patients referred for targeted ultrasound examinations at different weeks, including patients with suspected or externally diagnosed aneuploidies. A total of 160 fetuses with trisomy 21 were identified. Of those, 40 (25%), 37 (23.1%), 37 (23.1%) and 46 (28.8%) were diagnosed < 13 + 6 weeks, at 15 to 18 weeks, 19 to 22 weeks and > 22 weeks, respectively. Maternal age in the first three groups was significantly higher than in the group with late referral (37.1 vs. 34.9 years). In the first trimester, 38% of cases were diagnosed after screening in our center and 62% were referred for suspicious findings or confirmed trisomy 21. Second trimester diagnosis was 21.6% and 13.6% after screening, compared to 78.4% and 86.4% referred for suspected or diagnosed trisomy 21 at 15 to 18 weeks and 19 to 22 weeks, respectively. All cases with late referral had ultrasound abnormalities. Despite an increasing proportion of first trimester examinations performed at centers and by local obstetricians, the vast majority of cases with trisomy 21 are still diagnosed in the second trimester. Cases in the high risk population are detected earlier, as these patients receive targeted ultrasound examination in the first and early second trimester.
Problemstellung: Das assoziierte Fehlbildungsspektrum, die Varianten des umbilikal-venösen Rückflusses, sowie das Outcome pränatal diagnostizierter Ductus venosus (DV) Agenesien sollte ermittelt werden.
