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Objectives: The purpose of this retrospective study was to determine whether objective assessment of cardiac shifting on two-dimensional ultrasonography can predict postnatal outcome in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH)., Materials and Methods: Still images at the level of the four-chamber view were obtained in 23 fetuses with left-sided CDH. A group of 12 fetuses (3 non-survivors and 9 survivors) were examined at two periods, between 20 and 30 weeks and between 31 and 40 weeks. A further 11 fetuses (2 non-survivors and 9 survivors) were examined between 31 and 40 weeks. Fetal heart axis and position were determined manually and associated with postnatal outcome., Results: The cardiac axis remained constant in the 9 survivors (15.5 +/- 3.2 versus 17.2 +/- 3.3, p = 0.71) and 3 non-survivors (19.0 +/- 11.5 versus 18.5 +/- 11.8, p = 0.97). There was no statistical difference between the 9 survivors and 3 non-survivors at the two periods. Cardiac displacement remained constant in the 9 survivors (0.2 +/- 0.02 versus 0.2 +/- 0.02, p = 0.32) but increased significantly in the 3 non-survivors (0.2 +/- 0.04 versus 0.4 +/- 0.02, p = 0.015). The difference between survivors and non-survivors was statistically significant between the18 survivors and 5 non-survivors examined between 31 and 40 weeks of gestation (0.2 +/- 0.02 versus 0.4 +/- 0.02, p = 0.037)., Conclusion: This study does not support the hypothesis that objective assessment of mediastinal shift in fetuses with left-sided CDH has a role in predicting postnatal outcome before fetal viability, which is when it would be more useful for counseling patients regarding whether to continue with the pregnancy or to opt for termination., (Copyright (c) 2007 John Wiley & Sons, Ltd.)

We report a fetus of 28 weeks' gestation in which ultrasonography demonstrated unilateral ventriculomegaly and microcephaly. Fetal MRI demonstrated a simple, left paramedian occipital cyst with rarefaction of the corpus callosum and thinning of the adjacent cortical mantle. Ischaemia was suggested as the underlying pathogenesis, but autopsy after termination of pregnancy revealed a glioependymal cyst. This case highlights consideration of the rare diagnosis of glioependymal cyst when a cystic lesion associated with cerebral malformations, particularly dysgenesis of the corpus callosum, is demonstrated and fetal MRI suggests an ischaemic origin.

Objectives: The aim of this study was to evaluate whether fetuses with trisomy 21 and detectable nasal bones have a distinct facial anthropometry that can be objectively defined using three-dimensional (3D) ultrasonography., Methods: A prospective cross-sectional study of 40 fetuses in the second trimester, 17 with trisomy 21 and 23 controls, was performed. The 3D volume datasets of each case were evaluated for documentation of the nasal bones using the multiplanar and the maximum mode. The nasal bone length and the angle formed by the two maxillary bones at the level of the frontal process were then measured., Results: The nasal bones were absent in 7 (41%) of the 17 fetuses with Down syndrome. All of the 23 normal fetuses had detectable nasal bones. The difference between nasal bone length in trisomy 21 fetuses and controls did not reach statistical significance (p = 0.087). The mean maxillary angle in trisomy 21 fetuses with nasal bones was significantly wider compared to controls (p = 0.029)., Conclusions: The nasal bones are present in the majority of fetuses with trisomy 21 in the second trimester. This group of fetuses has a characteristic mid-facial anthropometry (wider maxillary angle) that can be assessed by means of 3D ultrasonography., (Copyright 2006 John Wiley & Sons, Ltd.)

Aim: Foeto-amniotic shunting is an ultrasound-guided, therapeutic intervention for drainage of persistent intracavital fluid retention in severely affected foetuses with a high risk of mortality. In order to weigh up the comparatively high risk of intervention against the possible benefit, we evaluated the value of different indications, the complication rate and the time span of drains in situ., Patients and Methods: We made a survey of all level III ultrasound centres of German-speaking countries from 1993 to 2001. Six level III centres returned the questionnaire: forty-seven foeto-amniotic shunting procedures were performed in 30 foetuses [megacystis in 18 foetuses (three of these with urinary ascites), hydrothorax in eight foetuses, hydronephrosis in two foetuses, cystic adenomatoid malformation of the lung in one foetus, ovarian cyst in one foetus]., Results: The median gestational age at time of shunting was 23.5 (range 16 - 33) weeks, at time of delivery 35 (range 23 - 41) weeks. The median time span of drains in situ was 19 (range 0 - 170) days. Altogether 18 of 30 foetuses (60 %) had a benefit of foeto-amniotic shunting., Conclusion: The best possible selection of pregnancies which might profit from foeto-amniotic shunting is required. The decisive criteria are the underlying defect as well as the severity and progression of the disorder.

Objective: The right subclavian artery arises normally as the first vessel from the brachiocephalic artery of the aortic arch. An aberrant right subclavian artery arises as a separate vessel from the aortic isthmus and crosses to the right, behind the trachea. This variant is present in <1% of the normal population; however, in subjects with Down syndrome, an incidence between 19% and 36% was reported. The purpose of this study was to assess the possibility of the detection of an aberrant right subclavian artery in fetuses with Down syndrome., Study Design: Fourteen consecutive fetuses with prenatally detected Down syndrome were examined between 18 and 33 weeks of gestation. The presence of an aberrant right subclavian artery was determined by visualization of the transverse 3-vessel trachea view of the upper thorax with color Doppler ultrasonography., Results: The right subclavian artery was visualized in 100% of fetuses (14/14) with Down syndrome. An aberrant right subclavian artery was identified in 35.7% of trisomy 21 fetuses (5/14). In 1 fetus, the aberrant right subclavian artery was the only abnormal ultrasound finding. In 3 fetuses, an aberrant right subclavian artery was associated with an intracardiac echogenic focus plus additional extracardiac markers. In the fourth fetus, an aberrant right subclavian artery was associated with an atrioventricular septal defect. All 9 fetuses with Down syndrome with a normal origin of the right subclavian artery had additional cardiac and/or extracardiac abnormalities. In 12 cases, pregnancy was terminated; 2 fetuses were live born., Conclusion: This preliminary study suggests that the in utero identification of an aberrant right subclavian artery may be a new ultrasound marker to be found in fetuses with Down syndrome. Further studies are required to assess the incidence of aberrant right subclavian artery in normal fetuses.

Introduction: Vascular imaging by means of colour Doppler sonography is an established method in prenatal diagnostics, especially in fetal echocardiography. In recent years, new techniques for the imaging of vessels have been developed, attaining B-scan quality. One example of such techniques is the Advanced Dynamic Flow. The goal of the study was the comparison of the practical application of ADF under routine conditions with the established colour Doppler method, on the same machine., Aim of the Study: Comparison of conventional colour Doppler sonography with Advanced Dynamic Flow., Study Design: a prospective, systematic study., Patients and Method: We used a representative cross-section through the fetal vessels and also carried out complete fetal echocardiography. Between January 1 (st), 2002 and December 31 (st), 2002, 100 pregnant women between the 12 (th) to 40 (th) gestational week were examined., Results: The success rate for visualisation of blood flow was the same or higher for Advanced Dynamic Flow in all areas, compared with conventional colour Doppler. These results could also be achieved in fetal echocardiography., Conclusion: The Advanced Dynamic Flow technique is a new method for vascular imaging with B-scan quality. It offers high resolution, good lateral discrimination and high sensitivity. The present prospective study has demonstrated that ADF achieves better vascular imaging than conventional colour Doppler sonography. The fact that ADF offers an almost three-dimensional imaging of vessels is particularly valuable. The ease of use of the ADF technique qualifies this method as a serious alternative to conventional colour Doppler sonography.

Objectives: Intra-uterine bowel perforation can occur secondary to a variety of abnormalities and cause sterile peritonitis in the fetus (generalised = type I). If sealing of the perforation does not take place, a thick-walled pseudo-cyst can form (type II)., Methods: Over a 12-year period, 21 616 pregnancies were screened for gastro-intestinal malformations using prenatal ultrasound. We identified 1077 cases suspicious of surgically correctable malformations. Post-natal diagnoses and outcome were worked up retrospectively., Result: We found 96 fetuses with suspected gastro-intestinal malformations. Prenatal bowel perforation with meconium peritonitis was confirmed in 11 cases. In 5 of these 11, the correct diagnosis had been predicted prenatally. One child presented as a fetal and neonatal emergency (case report). Ten of the eleven infants were operated on during their first day of life. Intra-operative findings were atresia (n = 4), meconium ileus (n = 6) and no obvious cause (n = 1). Two children suffered fatal complications., Conclusion: Meconium peritonitis and meconium pseudo-cysts as its special manifestation are assessable by prenatal diagnosis but present in different ways. They can present as fetal ascites or echogenic bowel and cause fetal or neonatal distress, requiring close observation and highly specialised care., (Copyright 2003 John Wiley & Sons, Ltd.)

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.

A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler, which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed., (Copyright 2002 John Wiley & Sons, Ltd.)

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.

Objective: Esophageal atresia may be diagnosed prenatally by ultrasonographic visualization of the blind-ending esophagus during fetal swallowing, which is referred to as the pouch sign. Our purpose was to determine whether this sign can be used to predict outcomes of affected fetuses., Study Design: Four cases of esophageal atresia diagnosed in our center during the past 2 years were analyzed, in conjunction with 3 cases from published series. Ultrasonographic features of the pouch sign were categorized according to localization., Results: In the neck pouch group (n = 3) 1 fetus died in utero and 1 died before a corrective operation could be undertaken. In the only fetus of this group to survive a staged repair was necessary because of a long atretic gap. Conversely, 3 of the 4 fetuses with a mediastinal pouch survived after a successful corrective operation, and primary repair was possible in all cases., Conclusions: The base of the proximal blind-ending esophagus can be clearly localized by means of ultrasonography. Our data suggest that a neck pouch may be associated with an adverse outcome. This information may be useful in counseling parents when esophageal atresia is diagnosed prenatally.

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.

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.

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: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions., Methods: We present 4 cases of neuroblastoma showing suspicious prenatal ultrasound findings. The investigation comprises detection during pregnancy, typical sonographic signs, as well as the postnatal outcome. In addition, a review of the literature is undertaken with a focus on prenatal sonographic signs of congenital neuroblastomas., Results: In all 4 cases, a cystic tumour was detected during the 3rd trimester of pregnancy by means of B-mode sonography. One boy died of disseminated metastases at the age of 26 months. The other 3 survived after surgery and have remained healthy., Conclusions: The detection of a cystic suprarenal mass is suspicious of a congenital neuroblastoma. The delivery should take place at a perinatal centre.

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.

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.

Modern ultrasonic diagnostic instruments with high resolution and color Doppler sonography allow the obstetrician to describe pathological findings very precisely and at an early stage of pregnancy. The use of high-resolution ultrasound makes it possible to detect heart malformations already between the 8th and 10th week of gestation. This development has essentially changed the clinical requirements on fetal autopsy which in its traditional way no longer meets the increased demands. Unless the pathologists faces this challenge the importance of fetal autopsy will diminish. Modern image databases and communication techniques allow the pathologist to have direct access to text and images of pre-findings by other clinics. Great importance, however, must be attached to the interdisciplinary cooperation with obstetricians and geneticists. We report on routine fetal autopsy by using an interdisciplinary database an the Charité.

Unilateral lung agenesis should be suspected in fetuses presenting mediastinal shifting and absence of evidence of diaphragmatic hernia. Confirmation of diagnosis is not possible until birth as other more common lung anomalies may have a similar appearance. We present a case with right lung agenesis diagnosed at 34 weeks of gestation. Important for precise diagnosis was the color Doppler procedure, which revealed the absence of right pulmonary vessels. This is the first case in which unilateral lung agenesis has been recognized prenatally by nonvisualization of the corresponding lung vessels. The prenatally performed magnetic resonance sonography did not offer any advantages over sonography. Postnatally, the diagnosis was confirmed, and sinus venosus defect was also found. To prevent recurrent cardiopulmonary crisis, which could be caused by mediastinal shift, a tissue expander was implanted successfully at 3 months of age.

Complete occlusion of the upper airways is known to cause secondary morphological changes, including bilaterally enlarged hyperechogenic lungs, dilated trachea, and hydrops. Prenatal diagnosis of upper airway obstruction has been described in several cases. In these reports, the diagnosis was primarily attributed to indirect signs, and the authors were in doubt as to whether the location of the obstructed area (larynx, glottis or trachea) could be precisely visualized by ultrasound. In this paper two cases are reported presenting the features of congenital high airway obstruction syndrome (CHAOS) diagnosed at the 22nd week of gestation. In both cases, the upper neck was perfectly visualized in a coronal plane. At the onset of fetal breathing movements, the stenotic larynx remained in a closed position. By positioning a colour signal on the fluid-filled dilated trachea, we noticed absence of flow throughout the onset of breathing activity. We conclude that the atretic area must be situated at the level of the larynx. Because of the poor prognosis of laryngeal stenosis and the presence of associated anomalies, both pregnancies were terminated in the 23rd week. This report shows that the application of colour and spectral Doppler may be helpful in the differential diagnosis of fetuses with CHAOS.

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.

Unlabelled: A Methodical Study:, Aim of the Study: To analyse the feasibility of colour and spectral Doppler assessment of blood flow in the fetal right (RPA) and left (LPA) main pulmonary arteries in relation to fetal position and to gestational age., Study Design: The fetal position was a priori divided into 3 types, depending on whether the fetal heart was visualised apically (Type 1), from the right side (Type 2) or from the left side (Type 3). Three groups A (19-25 weeks gestation), B (26-32) and C (33-39) including 33 consecutive pregnancies each, were examined to document the fetal position as well as the rate of the successful Doppler examinations of the RPA and/or LPA., Results: The fetal position Type 2 was most common throughout gestation (in group A = 42%, B = 36%, C = 51%) followed by the type 3 and then type 1. The rate of successful Doppler records from the RPA and LPA depended on the fetal position: In Type 2 RPA in 98%; in Type 3, LPA in 100%; but the apical approach was not effective (< 40%). Depending on gestational age, the success rates for a Doppler examination of at least one vessel were high (> 85%), whereas successful examination of both vessels was unlikely (12%)., Conclusions: In the second half of pregnancy, independent of fetal position, Doppler examination of at least one pulmonary artery is successful in most cases, whereas the assessment of both vessels is rather difficult.

The aim of the study is to present biometrical data of the fetal lung measured in real-time sonography in mid-pregnancy. In 313 healthy fetuses of singleton pregnancies between the 15th and 30th week of gestation the fetal lung was measured in the horizontal, sagittal and frontal cross-sectional planes. In each plane the lung was measured in the following levels: clavicula, heart at the atrioventricular level (four chamber view) and diaphragm, as well as the lung length. During observation time all parameters showed a significant linear increase (r2 > 0.9; p < 0.001). Furthermore we found a high correlation between the same lung measurements collected in the different planes. The intraobserver variability was 3-8%. Such references of different planes could be helpful for differentiation of a small (hypoplasia) or a large lung (malformation).

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.

As a normal scan at 20 weeks of gestation a pregnant woman was referred at 36 weeks because of a cystic tumour in the fetal kidney. The cyst, 27 mm in diameter, was localised at the cranial pole of the right kidney. A fetal neuroblastoma was suspected. At the fourth day after birth adrenalectomy was performed and the histological finding confirmed the prenatal diagnosis. Two years later the child is healthy. In review of the literature we found that sonographic pattern and localisation of fetal neuroblastoma are different, but in all cases the detection was performed in the third trimester of gestation.

We report the course of pregnancy in a patient with Takayasu's arteritis type I and describe the diagnostical and therapeutical management with repeated Doppler-sonography. Immunosuppressive therapy was reduced in pregnancy and could be maintained on a low level even after delivery. In the third trimester arterial blood pressure raised up to 190/60 mm Hg and was sufficiently lowered by prescription of verapamil. Repeated Doppler-sonographic investigation beginning with 20 weeks of gestation revealed indices in the normal range during the whole pregnancy. After 37 weeks of gestation a healthy infant was delivered vaginally. The post partum course was uneventful.

Pulsed Doppler velocimetry of the fetal aortic and pulmonary valves derived in the five-chamber-view and short-axis view were performed in 88 uncomplicated pregnancies between the 20th and 40th week of gestation. The maximal and mean velocities were assessed for both semilunar valves. Considering the valve diameters and heart rate the stroke volume and cardiac output for both ventricles were calculated. Furthermore, the common stroke volume, common cardiac output and the ratio of right to left cardiac output were calculated. Normal ranges for all these parameters were constructed and correlated with gestational age. The maximal velocities were higher in the aorta than in the pulmonary trunk, but no differences were found in the mean velocities. The stroke volume and cardiac output of the right ventricle were in higher ratio 1.3:1 than that of the left ventricle as an expression of the right ventricular dominance in the fetus. Intracardiac Doppler flow velocimetry gives an insight into the physiology of fetal circulation and is a basis for the analysis of blood flow under pathological conditions.

Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

The first part gives an overview of the practical application of colour-coded Doppler sonography in foetal cardiology. After a comparison between colour-coded and pulsed spectral Doppler in the assessment of foetal intracardiac haemodynamics, the basic principles of colour Doppler are presented. Some practical aspects important in the optimal analysis of the foetal heart are emphasised considering the possibilities and limits of the method. The typical patterns of colour Doppler flow in normal foetal hearts and possible pitfalls are explained viewing different cross-section planes. After the analysis of the cardiac structures in Real-Time, the colour Doppler sonography enables the examiner to assess rapidly and reliably the intracardiac haemodynamics in the foetus. This diagnostical mean improves the accuracy of foetal echocardiography in the diagnosis of congenital cardiac diseases.

The second part gives an overview of the usefulness of colour Doppler in the diagnosis of congenital heart anomalies in the foetus. Typical colour Doppler findings in anomalies of the right ventricular inflow and outflow tract are presented especially in tricuspid atresia, in Ebstein's anomaly, in pulmonary stenosis and pulmonary atresia. Furthermore exposed are the findings in malformations of left ventricular inflow and outflow tract like in hypoplastic left heart syndrome or in aortic stenosis. The typical shunt patterns detected in atrioventricular or ventricular septal defects are also presented. The analysis of the perfusion of the great vessels bei colour Doppler is important and enables a reliable assessment of some cardiac defects like the Tetralogy of Fallot, the transposition of great arteries or the double outlet right ventricle. At least the application of the colour coded M-Mode echocardiography is explained. Colour Doppler echocardiography is a non-invasive method which is helpful in the detection and the description of abnormalities of the foetal heart and is nowadays indispensable in the prenatal diagnosis of congenital heart defects.

Foetal cardiac measurements performed in the four-chamber-view plane were performed in uncomplicated pregnancies between the 20th and the 40th week of gestation. Using cine-loop- and zoom-techniques, the heart length, width, area, and width/length ratio (n = 143) were measured. Including the thoracic diameter and the thoracic area (n = 128), the ratios heart width/thoracic width (CT-ratio) and heart area/thoracic area (CTA-ratio) were also calculated. Normal ranges for the measured parameters and calculated ratios were constructed. Viewing the foetal four-chamber-plane is nowadays a routine scan in obstetrics, and such proposed reference curves could help the sonographer, to detect an abnormal heart and differentiate heart dilation from normal heart in a growth-retarded foetus.

Fetal cardiac measurements derived in the five-chamber and the short-axis view were performed in uncomplicated pregnancies between the 20th and the 40th week of gestation. Using cine loop and zoom techniques, the diameters of the aortic and pulmonary valve were measured (n = 157) and the pulmonary trunk/aorta ratio calculated. Normal ranges for both parameters were constructed and correlated with gestational age. Both diameters showed a linear increase during gestation (aorta r = 0.87, pulmonary trunk r = 0.91). The mean pulmonary trunk/aorta ratio had a constant value of 1.25 and showed no changes throughout pregnancy. In 128 fetuses the heart width was further measured and the vessel diameters were presented in correlation to the heart width.

The present study reports on 3 cases of cystic renal dysplasias of Potter II type with variable characteristics and different clinical symptoms. The prenatal sonography revealed multicystically altered kidneys in the 19th to 33 rd week of gestation. Amniotic fluid cells and fetale lymphocytes were investigated to exclude possible chromosomal disorders. In case one, a unilateral cystic renal dysplasia was diagnosed by sonography in the 19th week of gestation. The chromosome analysis revealed one additional and altered chromosome 22 (partial trisomy). In case two, a bilateral cystic renal disease with oligohydramnios was distinguished in week 21 of gestation. In both cases, the pregnancies underwent artificial abortions and the stillborn infants were subjected to post mortem examinations. The patho-anatomical examinations confirmed the results of prenatal diagnoses and the classification of the cystic renal alteration as renal dysplasia of Potter II type. In case two, extrarenal malformations were found additionally. In case three, sonography revealed a unilateral multicystic kidney. In this case, there had not been any clinical symptoms in the prenatal stage, neither originating from the affected organ nor from other disorders. After delivery at predicted day a unilateral nephrectomy was performed because of space-consuming growth inside the abdominal cavity.

To evaluate the use of serial measurement of cervical length and width of internal os by means of vaginal ultrasound 144 pregnant women were examined prospectively. We hypothesized, that cervical length and width of the internal os would be significantly different in normal patients and those with preterm labor or cervical incompetence. Predictive validity of suspicious findings indicating the occurrence of preterm labour and cervical incompetence in further course of pregnancy should be assessed. Anamnestic, sonographic and outcome data were analysed. To assess sensitivity, specifity, positive and negative predictive values, different values of cervical length and width of internal os between 20 and 27 weeks were analysed. Significant differences of cervical length and width of internal os in normal and pathologic pregnancies could be documented early in pregnancy course. By further investigation early suspicious findings indicating the developing pathology were found only for the subgroup with cervical incompetence. Sensitivity of vaginal ultrasound examination between 20 and 27 weeks indicating the whole pathologic collective was only 30%, whereas up to 55.5% of pregnancies complicated by cervical incompetence were detected. Specifity (up to 95%) and negative predictive value (90%) were high. The results show that cervical examination by vaginal ultrasound allows early detection of developing cervical incompetence. The high specifity and the high negative predictive value may be useful to exclude cervical incompetence in clinically unclear cases thus helping to avoid unnecessary therapeutical interventions.

During a 7-year-period 22 foetuses with an Arnold-Chiari deformity were diagnosed. The reason for referring to our centre were severe additional malformations. In 2 cases protrusion of the fetal brainstem is documented by sonography prenatally. Prenatal diagnosis of an ACM has not been documented in the literature. The cytogenetic and microbiological findings including the additional malformations are presented. Pathogenesis, outcome and treatment options are discussed.

Prenatal sonographic investigations were applied for malformations to 7,194 foetuses, between October 1985 and April 1992, with 28 cases of osteochondrodysplasia (OCD) and one case of dysostosis being dissected. Included were 20 cases of lethal osteochondrodysplasia, among them two cases of lethal hypophosphatasia, five cases of thanatophoric dysplasia, one case each of Type II shortrib (polydactyly) syndrome (VERMA-NAUMOFF) and metatropic dysplasia, three cases of campomelic dysplasia and eight cases of Type II A imperfect osteogenesis. Also observed were eight cases of nonlethal OCD, among them three cases of diastrophic dysplasia and five of achondroplasia. Dysostosis was recorded from one case and was diagnosed as Type V acrocephalosyndactyly (Pfeiffer). Identification of a specific OCD proved to be difficult in the second or third trimenon. Hence, the form of OCD was prenatally diagnosed only in ten of all cases investigated. Tentative diagnosis was first established from the postmortem radiograph. Additional malformations and other abnormalities then were detected by complementary pathologico-anatomic processing of findings. The final diagnosis was derived from radiological, pathologico-anatomic and histological findings. Diagnosis of this constitutional osteopathy is quite difficult and calls for interdisciplinary cooperation between gynaecologists, neonatologists, paediatric surgeons, radiologists, geneticists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.

Recently Ferencz et al. [6] using the datas of the Baltimore-Washington Infant Study found a predominance of double outlet righ ventricle and truncus arteriosus communis among the congenital heart diseases of newborns of diabetic mothers. This paper reports about the prenatal diagnosis of a truncus arteriosus communis Type I in a 23 year old pregnant with insulin-dependent diabetes mellitus (White B). The diagnosis was performed in the 25th week using Real-Time- and Color-Doppler-sonography. The important features in the prenatal differentialdiagnosis from a tetralogy of Fallot are explained. The optimal management of pregnancy, the delivery at a perinatal center with subsequent operative correcture could improve the prognosis of the newborn.

The application of high resolution ultrasound in the prenatal diagnosis enables a detailed differentation of the intracerebral structures in the fetus. In a period of 16 months (Jan. 1990-June 1991) we diagnosed at the "Center for prenatal diagnosis and therapy" at the Charité's Hospital in 14 fetuses among 1800 investigated plexus chorioideus cysts. A rapid karyotyping after cordocentesis was performed in 11 cases. In 3 of them a trisomy 18 could be detected. In one fetus having a normal karyotype we could find besides the cysts multiple structural anomalies. In these 4 cases the termination of pregnancy was performed. In the other 10 pregnancies we could observe a spontaneous regression of the plexus cysts. These results suggest that the prenatal diagnosis of plexus chorioideus cysts is a indication for cytogenetic evaluation in order to detect a trisomy 18.

The authors report about the prenatal diagnosis of 34 cases of fetuses with a single umbilical artery (SUA) observed at the Perinatal Center of Charité. Between January 1989 and June 1991 the SUA has been associated with some adverse perinatal events, such as low birth weight (35%), congenital malformations (35%), perinatal mortality (11%) and placental alterations (76%). The incidence was not higher in girls than in boys. We did not find any chromosomal anomalies in our cases. An accurate ultrasonographic examination of the SUA in the 16th to 20th week is very important. The prognosis of the newborn could be improved by efficient diagnosis and optimum management of pregnancy and of delivery at a perinatal center.

Fetal and neonatal teratoma is rare, but it is the most common tumor of the fetus and meonate. We report seven cases with fetal sacrococcygeal teratoma and two cases with craniocervical teratoma. The diagnosis, further management of pregnancy and birth are described and compared with recent literature. While craniocervical teratoma is associated with very poor prognosis, there are sacrococcygeal teratoma with good survival rate and postoperative good functional results. Very important is prolongation of pregnancy near to term.