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Objective: To describe the course and outcome of fetuses with absent or reversed end-diastolic (ARED) flow in the umbilical artery (UA) and to examine the influence of prematurity according to gestational age at delivery., Methods: Sixty pregnancies complicated by ARED flow in the UA were monitored by repeat Doppler measurements of arterial and venous vessels, non-stress tests (cardiotocogram (CTG)) and maternal investigations, and were delivered between 24 and 34 weeks. Fetal outcome was investigated and compared to a control group of appropriate-for-gestational age (AGA) preterm neonates, matched for gestational age. Mortality, birth weight, Apgar scores, postnatal cord arterial pH and need for ventilation were all recorded, as were cases of respiratory distress syndrome, bronchopulmonary dysplasia, persistent ductus arteriosus, necrotizing enterocolitis, intraventricular hemorrhage, periventricular leukomalacia, abnormal neurological findings and those requiring surgical intervention. Additionally, the group of fetuses with ARED flow was divided into three subgroups of different degrees of prematurity (delivery between 24 + 0 and 28 + 6 weeks, delivery between 29 + 0 and 31 + 6 weeks, and delivery after 32 weeks) and compared according to the above parameters., Results: Pre- or postnatal death occurred in 16 cases. Comparing the 44 (61%) that were born alive with the AGA neonates, significant differences were found in birth weight (P < 0.001), arterial pH value (P < 0.001), bronchopulmonary dysplasia (P = 0.002) and intestinal complications (P < 0.01). Prematurity-related complications were: need for ventilation (P = 0.001), respiratory distress syndrome (P < 0.0001), periventricular leukomalacia (P = 0.002) and pathological neurological testing (P = 0.005)., Conclusions: Neonates displaying ARED flow before birth are growth restricted, acidemic at delivery and are at high risk of developing bronchopulmonary dysplasia and intestinal complications. While perinatal mortality seems to be related to abnormal fetal Doppler velocimetry, age at delivery has a significant impact on short-term morbidity. After 32 weeks, morbidity is low and delivery should be considered. It could be speculated from our data that prolongation of pregnancy with Doppler velocimetry monitoring could help to reduce morbidity, although prolongation remains limited in most cases., (Copyright 2005 ISUOG)

Objectives: The ratio of the lung area (on the contralateral side of the hernia) to the head circumference, the lung-to-head ratio (LHR), has been proposed as a reliable tool in the assessment of the prognosis of congenital diaphragmatic hernia (CDH). An LHR < 0.6 has been associated with poor outcome whereas one > 1.4 has been associated with survival. We aimed to analyze the role of LHR in predicting fetal outcome and ventilation parameters in cases of isolated CDH in our center., Methods: During the 40-month study period, 22 fetuses with an isolated CDH were delivered alive under optimized conditions at our perinatal center. LHR was measured at the time of diagnosis (median, 27 weeks' gestation). In addition to survival, postnatal ventilation parameters including pCO2, pO2, inspiratory O2 partial pressure, inspiratory pressure and oxygenation index were determined, as was the occurrence of pulmonary hypertension., Results: The overall survival rate was 59%. The LHR was not able to predict fetal outcome reliably. There was no correlation between the liver herniation, LHR and fetal outcome. The prenatally determined lung size reflected in the LHR did not show any significant association with individual ventilation parameters. Eleven of 17 infants examined had signs of pulmonary hypertension and the LHR did not predict this condition., Conclusion: Our study cannot support the optimistic results reported by other groups on the use of LHR as a reliable predictor of outcome in fetuses with CDH. The LHR, as a reflection of lung size, correlates neither with survival patterns nor with various postnatal ventilation parameters., (Copyright 2005 ISUOG.)

Objective: In female fetuses ovarian cysts represent the most important differential diagnosis for intra-abdominal masses. Analyzing our own patient population we investigated whether there was a connection between sonographic parameters and postnatal course, especially with regard to the need for surgical intervention., Patients and Methods: This was a retrospective analysis of cases from the years 1986-1999. The pre- and postnatal data of 64 fetuses who were suspected prenatally to have an ovarian cyst were analyzed. The postnatal outcome was known for all the children., Results: The diagnosis was made in all cases in the third trimester (median, 35; range, 26-40 weeks' gestation). In 34 of the 64 (53%) cases, resolution of the cyst occurred either prenatally (n = 18, 53%) or postnatally (n = 16, 47%). The cystic structure in the cases with resolution was isolated, smooth-walled (n = 29) or heterogeneous (n = 5). Postnatal surgery was performed in 30 of the 64 (47%) children. In 18 of the 30 children a fenestration of the ovary was performed (60%). In this group there were 13 children with an isolated, smooth-walled ovarian cyst and five children with a heterogeneous cyst. Twelve of the 30 (40%) children underwent an ovariectomy. Among these 12 children there were eight cases with a heterogeneous cystic structure and four cases with an isolated, smooth-walled cystic structure. Of the 30 cases that underwent surgery, 29 had a follicular cyst and one had an ovarian teratoma (with a heterogeneous internal structure). In three fetuses aspiration of cyst fluid was undertaken and subsequent resolution occurred in one case. The other two cases had to undergo postnatal fenestration., Conclusions: When an ovarian cyst is suspected prenatally, serial ultrasound monitoring should follow and delivery should take place in a perinatal center. The prenatal findings should also be checked postnatally by ultrasound. Prenatal aspiration of the cyst seems to be of no advantage and should be carried out only in special individual cases.

Vessel malformations, which are very rare, can be diagnosed prenatally using color Doppler sonography. We present a case of a fetus which, at first prenatal presentation at 27 weeks, was diagnosed as having an intrapulmonary arteriovenous malformation. On the basis of the gray-scale sonographic findings of cardiomegaly and dilatation of the right pulmonary vein and right pulmonary artery, color Doppler sonography was performed which identified an arteriovenous malformation of the right lung. By means of pulsed Doppler sonography it was possible to determine the hyperdynamic blood circulation in the incoming and outgoing vessels of the vascular malformation: right pulmonary artery peak systolic velocity = 90 cm/s and end-diastolic velocity = 30 cm/s; right pulmonary vein peak systolic velocity = 60 cm/s and end-diastolic velocity = 30 cm/s. The fetus went on to develop hydrops as the result of an arteriovenous valve insufficiency. At 30 weeks' gestation a Cesarean section was performed and the neonate died due to respiratory and hemodynamic problems during catheter insertion. The autopsy provided pathoanatomical confirmation of the prenatal diagnosis of an arteriovenous malformation of the right lung. There was no evidence of hereditary hemorrhagic telangiectasia.

We report two cases of fetal left heart hypoplasia with extremes of size of interatrial communication, i.e. a closed foramen ovale and an atrial septal defect. Doppler examinations of the pulmonary veins showed almost to and fro flow in the fetus with the closed foramen ovale and, in contrast, a normal flow velocity waveform in the fetus with the atrial septal defect, despite mitral atresia. Our observations support the importance of left atrial pressure in the creation of a pulmonary venous flow pattern in the fetus.

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.

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.

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.

Objective: The purpose of this investigation was to examine the characteristics of breathing-related fluid flow in the trachea of human fetuses with congenital diaphragmatic hernia in the hopes of developing a standard for the prenatal diagnosis of the degree of severity of the resulting pulmonary hypoplasia. Our ultimate goal is the prediction of postnatal mortality in fetuses with congenital diaphragmatic hernia., Subjects and Methods: The study comprised six cases of isolated congenital diaphragmatic hernia (one on the right side; five on the left) varying in gestational age from 26 to 36 weeks. Four of the patients survived after surgical repair and two died during the neonatal period owing to lung hypoplasia. Color Doppler was used to visualize the fluid displacement in the trachea generated by fetal breathing movements. Spectral Doppler was then used to analyze the fluid flow velocity waveforms. More than 40 continuous breathing cycles (inspiration + expiration) were recorded for each case. We distinguished between regular and irregular patterns., Results: Only the regular breathing phases, defined as five or more consecutive cycles of symmetric appearance, were considered for analysis. The inspiration and expiration times, the peak velocity of inspired and expired fluid and the volume obtained by integration of the tracheal fluid flow displaced during fetal breathing were compared with those of five healthy fetuses for each gestational age. Only the tracheal volume flow was helpful in predicting outcome. In normal pregnancies this parameter increased from 0.21 +/- 0.10 ml/breath (mean +/- SD) at 26 weeks to 1.37 +/- 0.48 ml/breath at 36 weeks of gestation. A significantly low (p < 0.05) volume flow was found only in the fetuses with congenital diaphragmatic hernia with a lethal postnatal outcome, whereas this parameter was normal in all survivors., Conclusions: Our preliminary observations suggest that the tracheal volume flow during fetal breathing activity is related to lung growth. In fetuses with severe lung hypoplasia one would expect a significant reduction in this parameter as an expression of deficient fetal lung growth. The displaced fluid volume per breath in the trachea of human fetuses as assessed by Doppler ultrasound may be a useful predictor of outcome in cases of isolated congenital diaphragmatic hernia.

Enlargement of the fetal liver and spleen as well as oligohydramnios were the only pathological sonographic signs detected in a pregnant woman presenting because of decreased fetal movements at 31 weeks' gestation. Doppler examination of fetal vessels revealed pathological values (absent or reversed flow in the umbilical artery, centralization of fetal circulation). No hydrops development or any further malformations were seen. The association of pathological Doppler findings with hepatosplenomegaly roused the suspicion of fetal infection. The infant had to be delivered because of deterioration of fetal heart rate patterns 2 days later. The newborn had Down's syndrome and the confirmed hepatosplenomegaly was found to be due to a transient myeloproliferative disorder with severe leukocytosis and predominance of immature blast forms. Hematological parameters normalized without specific therapy within 3 weeks. Although transient leukemic reactions have been diagnosed prenatally in cases of Down's syndrome associated with non-immune hydrops, to our knowledge this is the first reported case of isolated hepatosplenomegaly visualized by prenatal ultrasound as a sign of trisomy 21. The presence of fetal hepatosplenomegaly has to be taken into consideration as a possible marker for trisomy 21 and not only for infectious or metabolic diseases.

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.

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.

Our aim was to determine if it was technically possible to assess fetal tracheal fluid flow during fetal breathing movements, and to compare the data obtained with those recorded in the fetal nasopharynx. Tracheal and nasal fluid flow was analyzed in ten uncomplicated pregnancies, the gestational age ranging between 28 and 38 weeks. Color Doppler was used to detect the fluid displacement in the trachea generated by fetal breathing movements. Spectral Doppler was then used to analyze the fluid flow velocity waveforms. During the same breathing episode, nasal fluid flow was assessed by the same technique. The inspiration and expiration times were variable and not statistically comparable for both nasal and tracheal flow. Peak velocities of inspired and expired fluid were higher in the trachea than in the nose (p < 0.05). We found that the peak velocity of tracheal flow waveforms was significantly higher for inspiration than expiration (p < 0.05). No significant differences were found in the time velocity integral between inspiration and expiration (p = 0.79). The calculated intratracheal flow volume displaced during one breathing cycle increased from 1.3 to 5.0 ml with advancing gestation. Assessment of nasal and tracheal flow, using color and spectral Doppler, is feasible in the human fetus. Intratracheal flow measurements may provide an insight into the effect of fetal breathing movements on lung fluid in the human fetus.

We report on the prenatal diagnosis of ventriculo-coronary communication associated with pulmonary atresia and an intact interventricular septum. The diagnosis was made by transvaginal color Doppler sonography at 17 weeks' gestation and confirmed by transabdominal sonography at 19 weeks. Color Doppler demonstrated the communication between the distal hypoplastic right ventricle and the right coronary artery, with the course of this vessel situated along the outer heart wall. Spectral Doppler assessment showed bidirectional arterial flow in this vessel. Extracardiac skeletal anomalies (cleft hands and feet) were also detected and classified as an ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome. This led the parents to opt for termination of pregnancy. All findings were confirmed on autopsy. Using stereomicroscopy the malformations of the coronary system and main connections to the lumen of the right ventricle were additionally demonstrated. To our knowledge this is the first report on the identification of coronary artery malformations in a midtrimester fetus using transvaginal color Doppler. The early appearance enabled us to investigate the pathophysiological sequence of the combined defect. Further investigation might elucidate whether ventriculo-coronary communications arise secondary to pulmonary atresia and intact inter-ventricular septum, due to increased ventricular pressure, or are the primary defect leading to intrauterine pulmonary atresia or, indeed, whether both defects appear simultaneously.

In spite of the fact that most anomalies can be accurately diagnosed prenatally, one may be confronted with an extremely rare fetal abnormality that has never been described before. We report a case of a neuroectodermal cyst arising from the posterior neuropore. After 21 weeks of gestation a fetal anechoic intra- and extra-abdominal tumor was detected. The mass grew to 75 x 41 x 33 mm at 35 weeks. Initially it was believed to be a sacrococcygeal teratoma. Serial scans and Doppler ultrasound examinations were performed, which demonstrated fetal well-being. Color Doppler imaging failed to demonstrate increased tumoral perfusion. After elective Cesarean section, the tumor was excised. The postoperative course was complicated by recurrent infections of the urinary tract due to neurological damage to the bladder. There was also impaired function of the anal sphincter. The histological finding of a monolayer of neuroepithelial cells and melanocytes led to the diagnosis of a neuroectodermal cyst.