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Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself., (Copyright (c) 2005 John Wiley & Sons, Ltd.)

Objective: To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21., Design: A retrospective case series., Subjects: Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between 1993 and 1999., Methods: All fetuses had a detailed sonographic anatomic survey and biometry. Doppler of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein was performed whenever possible. Two-dimensional echocardiography supplemented by color Doppler flow mapping and spectral pulsed wave Doppler was performed in all cases of fetal hydrops. Fetal karyotyping was obtained by amniocentesis, chorionic villus sampling or fetal blood sampling. In the presence of fetal hydrops a cordocentesis was performed for fetal hematology, biochemistry and TORCH serology. In cases with diagnosis of myeloproliferative disorder, peripheral blast cells were characterized by microscopy, cytochemistry and determination of surface markers. All cases with myeloproliferative disorder were stillborn and subsequently had a postmortem examination performed., Results: During the study period 79 cases of trisomy 21 were diagnosed. Eleven of these had fetal hydrops. Three of these fetuses presented with hepatosplenomegaly and myeloproliferative disorder in the second and third trimesters. In addition, one fetus with sonographic markers of trisomy 21, where karyotyping was unfortunately unsuccessful, presented with hepatosplenomegaly, hydrops and myeloproliferative disorder. In the four fetuses with hepatosplenomegaly and hydrops, serology was negative for congenital infection. The characteristics of blast cells in the peripheral blood smear revealed a myeloproliferative disorder., Conclusion: Fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy, although suggestive of infectious etiology, may be a sign of myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. There is a possibility that a transient myeloproliferative disorder is a more common cause of mid or late-trimester hydrops in cases of trisomy 21 than previously thought. In these hydropic fetuses the prognosis seems to be poor. On the other hand we can speculate that a myeloproliferative disorder and the associated hepatosplenomegaly and/or hydrops may show spontaneous remission or that the transient myeloproliferative disorder may be without any detectable ultrasonographic signs and therefore may be more frequent in utero than realized.

Objective: To assess the influence of isolated congenital heart disease (CHD) on fetal arterial Doppler blood flow velocity waveforms., Methods: Doppler flow velocimetry was performed in the umbilical artery and middle cerebral artery in 115 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 41 weeks. Fetuses with isolated CHD were defined as group A (n = 55), showing cardiogenic hydrops fetalis in six cases; group B included 60 cases complicated by chromosomal or non-chromosomal extracardiac malformation, uteroplacental dysfunction or non-cardiogenic non-immune hydrops fetalis. The control group comprised 100 healthy fetuses of uncomplicated pregnancies. Individual pulsatility index measurements were converted into their Z-scores (delta values) for statistical analysis., Results: In regard to the umbilical artery pulsatility index, 115 fetuses with CHD showed a significantly greater (P < 0.001) difference from the normal mean for gestation (delta values) than the control group. However, 29 of the 33 cases with indices above the 95% reference interval were additionally associated with extracardiac malformations, uteroplacental dysfunction or non-cardiogenic non-immune hydrops fetalis. While fetuses with isolated CHD still showed significantly higher values than healthy fetuses (P < 0.01), only in 4 of 55 (7%) fetuses did the measured umbilical artery pulsatility index exceed the 95% reference interval. There was no significant difference from the control group, in which 4 of 100 cases showed an umbilical artery pulsatility index above the 95% reference interval. Elevated umbilical artery pulsatility indices were seen in only four cases of severe obstruction of the outflow tracts leading to reverse perfusion of the affected great artery and in one case of Ebstein's anomaly with pulmonary insufficiency. Although all four fetuses with isolated CHD and elevated umbilical artery pulsatility index died, 14 of 18 fetuses with lethal outcome had normal pulsatility index values in the umbilical artery. Investigations of the middle cerebral artery blood flow revealed no significant difference between fetuses with and without CHD or any subgroups., Conclusions: This study shows that arterial blood flow velocity waveforms in fetuses with isolated CHD do not show sufficient alterations to be of diagnostic value. Only in severe outflow tract obstructions due to a 'steal effect' or in significant insufficiencies of semilunar valves leading to an impaired 'wind-kessel function' may the special hemodynamic changes induced by CHD result in a significant increase of pulsatility index in the umbilical artery. In the majority of cases with CHD the increase of pulsatility index of umbilical arterial blood flow velocity waveforms, however, results from extracardiac anomalies, especially uteroplacental dysfunction and chromosomal abnormalities. Furthermore, umbilical artery Doppler sonography is not clinically helpful in predicting fetal outcome.

Objective: Our purpose was to assess the impact of prenatally diagnosed ventriculomegaly (VM) on the course of advancing pregnancy and the postnatal outcome of affected fetuses. Methods: In this retrospective survey 109/28,935 (3.8 per 1,000) singleton pregnancies with abnormal width of the fetal lateral ventricle system diagnosed by antenatal ultrasound examination at the University Hospital of Schleswig-Holstein, Campus Lübeck, were reviewed between 1993 and 2007. Clinical data and pregnancy outcome information were derived from a standardized parental questionnaire or from hospital records. Postnatal follow-up was obtained in >90%. Results: Forty-seven cases with isolated VM (IVM; 43%) and 62 fetuses (57%) with nonisolated VM were diagnosed. In the IVM group 19 cases had mild and 28 fetuses severe VM. Of 62 cases with non-IVM there were 32 with mildly dilated ventricles and 30 had severe enlargements. Chromosomal aberrations were present in 5 fetuses (4.6%) of the non-IVM group. Thirty-four pregnancies (31%) were terminated on parental request (10 IVM/24 non-IVM). The risk of abnormal neurodevelopmental outcome was highest in the presence of associated anomalies (irrespective of the extent of dilatation) and in cases with severe IVM (91 and 68%, respectively). In contrast, 13/14 children with mild IVM showed an age-related normal psychomotor behavior. Fetuses with severe VM had a 2.2- (IVM) to 3.6-fold (non-IVM) elevated risk of progressive dilatations compared to mild VM. In our study the fetuses with asymmetrical bilateral IVM tended to have severe ventricular enlargements more often. Conclusions: As reported previously we found a positive association between neurodevelopmental delay and the degree of lateral ventricular dilatation. The presence of additional abnormalities is generally a poor prognostic sign and accompanied by a nonfavorable postnatal outcome. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: To determine the incidence of reversed end-diastolic flow (REDF) in the umbilical artery in high-risk first-trimester pregnancies and evaluate associated conditions. Methods: This was a prospective evaluation of the umbilical artery Doppler waveforms of 614 consecutive high-risk pregnancies between 10 and 14 weeks of gestation, to determine those with REDF. The associated anomalies and characteristics of these fetuses were then investigated. Results: In 278/614 (45.3%) fetuses, there was positive end-diastolic flow in the umbilical artery; in 331/614 (53.9%) end-diastolic flow was absent and in 5/614 (0.8%) there was REDF. Three of the five fetuses with REDF had tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS) and a patent ductus arteriosus, and all three showed signs of cardiac failure, with reversed blood flow in the ductus venosus during atrial systole and generalized skin edema. Another fetus had a large ventricular septal defect and the remaining fetus had agenesis of the ductus venosus. Three fetuses had trisomy 18 and one had trisomy 13. Conclusions: REDF in the umbilical artery is very rare in early pregnancy and mostly occurs in association with major fetal vascular anomalies and cardiac defects, particularly TOF with APVS and patent arterial duct. We propose that the patency of the arterial duct in TOF with APVS leads to heart failure with subsequent demise early in pregnancy. Therefore, the frequent absence of the arterial duct observed in APVS in later pregnancy is more likely to be a result of early selection than a prerequisite for the development of this lesion as has been proposed previously. [ABSTRACT FROM AUTHOR]

Objective To assess the impact of isolated lesions of the fetal right heart on ductus venosus (D V) blood flow profiles. Methods Retrospective evaluation of DV blood flow profiles in 83 fetuses with isolated right-sided cardiac lesions. Cases were divided into two groups. Group A had right-sided cardiac lesions associated with a large ventricular septal defect that equalized interventricular pressures (double outlet right ventricle (n = 12), tetralogy of Fallot (n = 19), pulmonary atresia (n = 5)). Group B had right-sided cardiac lesions with obstruction of the inflow (tricuspid atresia with ventricular septal defect (n = 14)) or obstruction of the outflow with intact ventricular septum (Ebstein's anomaly (n = 13), pulmonary stenosis (n = 13) and pulmonary atresia (n = 7)). Comparisons were made with 585 uneventful singleton pregnancies and previously published normative values. Results Fetuses in Group B had significantly higher rates of abnormal DV flow profiles compared to Group A and controls (P < 0.01). Conversely, there were no significant differences concerning DV parameters between fetuses in Group A and controls. Despite these different DV flow characteristics, there were no significant differences concerning signs of cardiac failure and/or survival to the perinatal period between the two groups. Conclusions Right-sided cardiac lesions with obstruction of the inflow or outflow with intact ventricular septum are significantly associated with abnormally high pulsatilities in the DV and may even cause a reversal of flow during atrial contraction. These changes do not necessarily indicate cardiac failure, as the), are primarily attributable to the special hemodynamics of the cardiac defect. [ABSTRACT FROM AUTHOR]

Objective To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. Methods This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. Results Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extra cardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. Conclusions PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome. [ABSTRACT FROM AUTHOR]

Objective: To evaluate whether abnormal atrial morphology, which is well recognized in autopsy series, is detectable by fetal echocardiographic examination of the four-chamber view, and can therefore be utilized to differentiate left from right isomerism in heterotaxy syndromes. Methods: This study was a retrospective review of 30 cases with prenatally diagnosed heterotaxy syndromes. Ultrasound video recordings and still images were reviewed with respect to atrial morphology in the four-chamber view. In 25 cases the morphology of both atria was sufficiently well visualized on the recordings to be evaluated and only these were included in the study. Results: Two types of atrial morphology were distinguished in our cohort: a sickle-shape with the tip pointing laterally and apically, and a blunt shape resembling the usual atrial appearance in the four-chamber view. Nineteen out of the 25 cases (76%) presented with isomerism of the atria in the four-chamber view. Thirteen had bilateral sickle-shaped atrial morphology, all associated with left isomerism. Six had bilateral blunt-shaped atrial morphology, all associated with right isomerism. The atria of the remaining six cases were not isomeric, the right atrium being sickle-shaped and the left blunt-shaped. Five of the latter cases were associated with left and one with right isomerism. Conclusions: The majority of prenatally diagnosed heterotaxy syndromes seem to present with isomeric atrial morphology in the four-chamber view. In these cases a differentiation between left and right isomerism can be based on the two distinct types of atrial morphology. This may further enhance the prenatal differentiation of these syndromes. [ABSTRACT FROM AUTHOR]

Objectives: To assess the spectrum of anomalies associated with fetal heart block and to identify possible prognostic markers. Methods: Retrospective review of all cases of second- or third-degree heart block identified in two tertiary referral centers in Germany (Bonn and Lübeck) and one in the USA (Baltimore). Results: Sixty fetuses with heart block were identified in the study period. Thirty-two had complex cardiac malformations, 31 of them associated with left isomerism. The outcomes of these fetuses were 22 terminations of pregnancy (TOP), three intrauterine fetal deaths (IUFD), three neonatal deaths (NND), two childhood deaths (CD) and there were two survivors. In 20 cases without complex cardiac malformations maternal antinuclear-antibodies were detected. Their outcomes were 2 TOP, 1 IUFD, 1 NND and 16 survived. The remaining eight cases had neither complex cardiac malformations nor associated maternal antibodies. Their outcomes were 1 TOP, 2 IUFD, 2 NND and 3 survived. After exclusion of terminated cases, hydrops as well as the presence of cardiac defects was significantly associated with non-survival (P < 0.01). The cardiothoracic circumference ratio was significantly higher in hydropic fetuses and significantly negatively correlated with survival in immune-mediated cases (P < 0.01). Atrial and ventricular frequencies and their evolution did not accurately predict fetal or neonatal outcome. Sympathomimetic treatment in seven cases was not associated with favorable fetal outcome in cases of hydrops or cardiac malformations. Conclusions: The most important marker predicting adverse outcome in cases of heart block is fetal hydrops, followed by the association with complex cardiac malformations. Cases without cardiac malformations have a significantly better prognosis, especially in the absence of severe cardiomegaly. [ABSTRACT FROM AUTHOR]

Objective To assess the feasibility of targeted first-trimester ultrasound evaluation in triplet gestations and to report the outcome in reduced and expectantly managed triplets. Methods This was a retrospective analysis of 127 triplets at 11–14 weeks with targeted ultrasound examination including nuchal translucency (NT) screening. Results One or more abnormal findings were observed in 33 of 381 fetuses (8.7%), including increased NT (n = 18), malformations (n = 4), aneuploidy (n = 3), relative intrauterine growth restriction (n = 2) or spontaneous demise (n = 13). Of 63 patients (49%) who chose reduction, selective termination due to abnormal findings was performed in 13 fetuses. The rates of complete abortion < 24 weeks were 9.8% and 3.2% for those with expectant management and fetal reduction, respectively. Expectantly managed triplets delivered significantly earlier (31.1 ± 3.8 vs. 35.6 ± 3.3 weeks) (P < 0.01) with a lower mean birth weight (1483 ± 552 g vs. 2305 ± 557 g) (P < 0.01) and a lower number of liveborn fetuses (85.6% vs. 97.4%) (P < 0.01) than those reduced. Conclusion Targeted first-trimester ultrasound is feasible and reliable in triplet gestations and should be an integral part of the counseling process. It results in more accurate selection for those who consider fetal reduction. Our data further support fetal reduction as a valuable strategy to improve perinatal outcome in triplet pregnancies. [ABSTRACT FROM AUTHOR]

Objective To assess the accuracy of fetal echocardiography in the prenatal diagnosis of cardiosplenic syndromes and the spectrum of associated anomalies. Methods This was a retrospective survey of fetuses in our databases over a period of 10 years with postnatally confirmed prenatal diagnosis of cardiosplenic syndromes. Results In 32 of 35 fetuses the prenatal diagnosis of cardiosplenic syndromes was confirmed postpartum. Twenty-two fetuses had left isomerism. Their main prenatal ultrasound features were interrupted inferior vena cava (n = 21), complete atrioventricularseptal defect (n = 15), viscerocardiac heterotaxy (n = 15), persistent bradyarrhythmia (n = 12) and fetal hydrops or nuchal edema (ii 12). Twelve pregnancies were terminated, two fetuses were stillborn and eight infants survived. Ten fetuses had right isomerism. Their main sonographic features were juxtaposition of the descending aorta and inferior vena cava (n = 7), complete atrioventricular septal defect (n = 7), left persistent superior vena cava (n = 6) and viscerocardiac heterotaxy (n = 6). In this group there was one stillbirth, five infant deaths and four survivors. The overall survival rate and spectrum of other cardiac malformations were similar between the two groups. Prenatal diagnosis of other visceral features of cardiosplenic syndromes was inconsistent. Conclusion Cardiosplenic syndromes can be diagnosed with high accuracy by prenatal sonography. A diagnosis of left isomerism should be strongly suggested in the presence of a combination of at least two of the following: (1) complete atrioventricular septal defect or other structural heart disease; (2) interruption of inferior vena cava with azygos continuation; (3) early fetal heart block; (4) viscerocardiac heterotaxy. Right isomerism should be suspected in the presence of a combination of at least two of the following: (1) structural heart disease, namely complete atrioventricular septal defect; (2) juxtaposition of inferior vena cava and descending aorta; (3) viscerocardiac heterotaxy. [ABSTRACT FROM AUTHOR]

We describe the prenatal sonographic diagnosis of femur-fibula-ulna complex at 20 weeks of gestation. On targeted ultrasound examination, a severe malformation of the lower limbs was observed. Further sonographic exploration demonstrated bilateral asymmetrical femoral hypoplasia, hypoplasia of both tibiae, bilateral aplasia of the fibulae and oligosyndactyly of the right hand with absence of the 4th and 5th rays. The prenatal sonographic features and differential diagnosis are discussed. [ABSTRACT FROM AUTHOR]

The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy. [ABSTRACT FROM AUTHOR]

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder. [ABSTRACT FROM AUTHOR]

Abstract Objectives To study the relationship between prenatal appearance and perinatal outcome of fetuses with hepatic hemangiomata with special emphasis on criteria that may help to improve perinatal management. Methods In a tertiary referral center six fetuses with hepatic hemangiomata were evaluated by gray-scale, color, and pulsed wave Doppler ultrasound between 1994 and 2000. Fetal blood sampling was performed in four cases. All data (computerized files and video tapes) were analyzed retrospectively. Results Two fetuses showed very similar sonographic findings. They had an isolated large (‘giant’) round hepatic hemangioma (diameter 43 and 68 mm, respectively) supplied by one hepatic artery and drained by one hepatic vein, both of them showing high velocity and low pulsatility blood flow. Fetal blood count and coagulation parameters were normal in one case, whereas the other fetus showed a Kasabach–Merritt sequence with severe thrombocytopenia (10 platelets/nL) and mild disseminated intravascular coagulation. Intrauterine platelet transfusion was performed immediately prior to planned Cesarean delivery. Rapid platelet consumption continued postnatally, requiring several thrombocyte transfusions. Platelet counts stabilized only after tumor resection on the second day of life. One fetus with diffuse neonatal hemangiomatosis developed high-output cardiac failure with hydrops in addition to Kasabach–Merritt sequence (15 platelets/nL), and died following premature delivery. Three fetuses, however, showing an isolated small hyperechogenic hepatic hemangioma (5, 5, and 6 mm in diameter, respectively) did not develop any perinatal complications. Conclusion Large fetal liver hemangiomata and diffuse hemangiomatosis may cause severe perinatal complications, particularly high-output cardiac failure and/or Kasabach–Merritt sequence with severe consumption of platelets and clotting factors and hemolytic anemia. Fetal blood sampling... [ABSTRACT FROM AUTHOR]

AbstractWe report on a female fetus with prenatally suspected hydrometrocolpos. Postnatal evaluation additionally revealed ambiguous genitalia, anorectal atresia, vertebral segmentation anomalies and congenital intestinal aganglionosis. Colostomy was performed, but postoperative recovery was complicated by pulmonary hypertension and renal failure, resulting in death at day 18. Postmortem examination furthermore revealed a small ventricular septal defect, as well as rectovaginal and urethrovaginal fistulae, causing massive dilatation of the septated vagina (hydrocolpos). The possibility of an overlapping VACTERL and MURCS association is discussed. [ABSTRACT FROM AUTHOR]

Abstract Fraser syndrome (cryptophthalmos–syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks’ gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected. [ABSTRACT FROM AUTHOR]

Abstract A twin-to-twin transfusion syndrome was diagnosed in a monochorionic-diamniotic pregnancy at 18 weeks’ gestation without any malformation, especially heart defect. In spite of the aggressive treatment (serial amnioreduction, digoxin treatment) the donor twin died at 25 weeks and twin reversed arterial perfusion (TRAP) sequence developed and was documented by Doppler ultrasound. In the TRAP-twin, the route of the reversed blood flow from the umbilical arteries was as follows: descending aorta, aortic arch, ascending aorta, aortic valve, left ventricle, mitral valve, left atrium, foramen ovale, right atrium, inferior vena cava, ductus venosus; and back to the placenta through the umbilical vein. After a 12-h observation period the twin reversed arterial perfusion sequence disappeared. During this period ultrasound and fetal blood sampling revealed no sign of fetal anemia or disseminated intravascular coagulation in the surviving twin. Based on our observations, we propose, that the death of one of the twins in monochorionic pregnancy can result in twin reversed arterial perfusion sequence, which is an ultimately rare phenomenon in the second trimester. To our knowledge, this is the first reported case of twin reversed arterial perfusion sequence subsequent to the intrauterine demise of one twin in twin-to-twin transfusion syndrome in which the TRAP-twin had no cardiac malformation. [ABSTRACT FROM AUTHOR]

Abstract Objective As fetal cardiac tumors are a rare condition, we report the perinatal diagnosis and ultrasound findings of 12 cases. Methods In 10 cases the tumors were identified prenatally by fetal echocardiography; gestational age at detection ranged from 22 to 34 weeks. In two symptomatic infants cardiac tumors were diagnosed on the first day postpartum; prenatal ultrasound evaluation at 26 and 38 weeks of gestation did not reveal a cardiac lesion. Results Six fetuses had singular tumors, in six fetuses they were multifocal. The left ventricle was most often affected. Termination of pregnancy was chosen in three cases, one in association with trisomy 21 and tuberous sclerosis. One intrauterine and three neonatal deaths due to cardiac failure occurred. Histopathologic examination revealed cardiac rhabdomyoma in six fetuses and fibroma in one case. In the five surviving fetuses the size of the tumors spontaneously decreased postpartum. Rhabdomyomata were associated with tuberous sclerosis in four out of 11 cases. Conclusion Cardiac tumors are detectable as early as 22 weeks of gestation. Presenting symptoms may be arrhythmia, dysfunction of the atrioventricular valves, pericardial effusion and fetal hydrops. The most common perinatal diagnosis is rhabdomyoma, which is often associated with tuberous sclerosis. Sequential examination in high risk patients should be considered as most tumors increase in size during pregnancy and may become evident in late second and third trimester of pregnancy. Postpartum, however, regression of tumor size is common. [ABSTRACT FROM AUTHOR]

Objective To determine the absent side of a single umbilical artery and its association with malformations and abnormal karyotypes. Methods We prospectively studied 102 fetuses from 13 to 39 weeks of gestational age with a prenatally identified single umbilical artery. The absent side, pregnancy data, Doppler findings and the perinatal outcome were reviewed. Results (1) The left umbilical artery was absent in 71 (69.6%) and the right in 31 (30.4%) fetuses; (2) Single umbilical artery as an isolated finding occurred in 59 (57.8%) pregnancies and was not associated with aneuploidy. The mean gestational age at delivery in this group was 38.4 weeks and the mean birth weight was 3047 g. Six (10.2%) fetuses were small for gestational age, all of them with normal umbilical and uterine Doppler findings; and (3) Chromosomal abnormalities were diagnosed in 10 of 43 fetuses with single umbilical artery and congenital malformations. In nine of 10 fetuses with aneuploidy the left umbilical artery was not developed. Absence of the left artery occurred in 21 of 33 fetuses with sonographic anomalies and normal karyotype. Pathologic Doppler measurements of the umbilical artery were found in only one case of nonchromosomal abnormality. Conclusion Our data suggest that in fetuses with single umbilical artery the absence of the left artery is more frequent than the absence of the right artery. The association with additional malformations seems to be equal on each side. [ABSTRACT FROM AUTHOR]

Objective The purpose of this study was to determine the prevalence and the characteristics of functional pulmonary valve regurgitation in normally grown fetuses. Design A prospective cross-sectional study. Subjects A total of 1115 singleton fetuses between 18 and 41 weeks of gestation and who had normal heart anatomy, normal estimated weight for gestational age and normal flow velocity waveforms in the umbilical and middle cerebral arteries and umbilical vein were examined. Cases with agenesis, constriction or other abnormalities of the ductus arteriosus were excluded. Methods Examination of the pulmonary valve was performed by color Doppler echocardiography, pulsed wave Doppler and, if necessary, continuous wave Doppler in the short-axis view at the level of the origin of the great arteries and/or in a subcostal view of the right ventricular outflow tract and pulmonary trunk. If pulmonary valve regurgitation was detected by color Doppler flow imaging and confirmed by pulsed wave Doppler echocardiography, the maximum velocity of the regurgitant jets as well as their maximum lengths were measured. Results The prevalence of functional pulmonary valve regurgitation was 0.54% (n = 6). Pulmonary valve regurgitation was part diastolic in four cases and holodiastolic in two cases, with maximum velocity of ≤2.05 m/s and maximum length of 3–8 mm. Prenatal re-examination of five of the six fetuses with pulmonary valve regurgitation showed that pulmonary valve regurgitation was a transient phenomenon in four cases. The fetal outcome in the presence of transient pulmonary valve regurgitation was normal; pediatric echocardiographic examination in these six fetuses with transient pulmonary valve regurgitation showed no regurgitations or other cardiac anomalies. Conclusions Pulmonary valve regurgitation was functional in all six fetuses. [ABSTRACT FROM AUTHOR]

An abstract of the article "Fetal meconiumperitonitis: common and uncommon antenatal findings," by J. Weichert, A. Schröer, M. Krapp, U. Germer, U. Gembruch, R. Axt-Fliedner and D. R. Hartge is presented.

An abstract of the conference paper "Antenatal diagnosis of skeletal anomalies: a review of 246 subsequent cases," by J. Weichert and colleagues, is presented.

An abstract of the research paper "Does a Short Nasal Bone in First Trimester Fetuses Persist During Gestation?," by U. Germer is presented.

An abstract of the conference paper "Management of prenatally diagnosed ventriculomegaly," by J. Weichert and colleagues is presented.

The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal aneuploidy. Women with assisted conception attended significantly more often for first trimester prenatal diagnosis (57.9 versus 34.9%, P < 0.01), but had fewer examinations in the early second trimester at 15-18 weeks (37.8 versus 48.8%, P < 0.01) than those with spontaneous conception. Screen positive results of 6.5 and 6.9% for first trimester examination and 6.0 and 7.3% for second trimester examination were found in assisted conceptions and controls respectively. A significantly higher rate of invasive prenatal diagnosis was observed in the second trimester for spontaneous conceptions, 20.0 versus 11.8% (P < 0.01) compared with assisted conceptions. This was attributed to the higher rate of invasive procedures in advanced maternal age ≥35 years of 40.7 versus 28.6% (P = 0.01) in spontaneous and assisted conceptions respectively. With the purpose of avoiding invasive testing, women with assisted conception were more likely to use the results of the ultrasound examination to guide their final decision about invasive testing, rather than undergo genetic amniocentesis as a first option. [ABSTRACT FROM AUTHOR]