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OBJECTIVE: To assess outcome after fetoscopic laser coagulation (FLC) of placental vascular anastomoses with the 30 degrees fetoscope in mid-trimester severe twin-to-twin transfusion syndrome (TTTS) with completely anterior placenta compared with the regular 0 degrees fetoscope in TTTS with other placental locations. METHODS: This was a prospective study of 176 consecutive monochorionic twin pregnancies undergoing FLC for severe TTTS. Of these, 51 patients required use of the 30 degrees fetoscope (study group) and 125 placental locations permitted use of the 0 degrees fetoscope (controls). RESULTS: The two groups had very similar outcomes. The median gestational age at FLC in the study group vs. control group was 21.0 (range, 17.4-24.6) weeks vs. 20.6 (range, 15.9-24.6) weeks. Both fetuses survived in 58.8% (30/51) of study patients vs. 66.4% (83/125) of controls. At least one fetus survived in 84.3% (43/51) of study patients and 88.8% (111/125) of controls (P = 0.45). Study patients delivered at a median of 34.1 (range, 25.0-38.4) weeks and controls at 34.0 (range, 25.0-40.3) weeks' gestation. CONCLUSIONS: Use of a 30 degrees fetoscope for FLC in cases of technically challenging extensive anterior placentation is associated with an outcome that is very similar to that achieved when a 0 degrees fetoscope is used in cases of more favorable placental location. [ABSTRACT FROM AUTHOR]

Combined first-trimester screening (FTS) and noninvasive prenatal testing (NIPT) have been proven to be reliable noninvasive procedures to detect the most common chromosomal abnormalities (trisomies 21, 18, 13) in the first trimester. The aim of this paper is to demonstrate the strengths and limitations of these two procedures and to give a consensus statement of the Fetal Medicine Foundation (FMF) Germany on how to use the two techniques in the first trimester after the introduction of NIPT as a service of the statutory health insurance companies in Germany., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Alongside mammography, breast ultrasound is an important and well-established method in assessment of breast lesions. With the "Best Practice Guideline", the DEGUM Breast Ultrasound (in German, "Mammasonografie") working group, intends to describe the additional and optional application modalities for the diagnostic confirmation of breast findings and to express DEGUM recommendations in this Part II, in addition to the current dignity criteria and assessment categories published in Part I, in order to facilitate the differential diagnosis of ambiguous lesions.The present "Best Practice Guideline" has set itself the goal of meeting the requirements for quality assurance and ensuring quality-controlled performance of breast ultrasound. The most important aspects of quality assurance are explained in this Part II of the Best Practice Guideline., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

For many years, breast ultrasound has been used in addition to mammography as an important method for clarifying breast findings. However, differences in the interpretation of findings continue to be problematic 1 2. These differences decrease the diagnostic accuracy of ultrasound after detection of a finding and complicate interdisciplinary communication and the comparison of scientific studies 3. In 1999, the American College of Radiology (ACR) created a working group (International Expert Working Group) that developed a classification system for ultrasound examinations based on the established BI-RADS classification of mammographic findings under consideration of literature data 4. Due to differences in content, the German Society for Ultrasound in Medicine (DEGUM) published its own BI-RADS-analogue criteria catalog in 2006 3. In addition to the persistence of differences in content, there is also an issue with formal licensing with the current 5th edition of the ACR BI-RADS catalog, even though the content is recognized by the DEGUM as another system for describing and documenting findings. The goal of the Best Practice Guideline of the Breast Ultrasound Working Group of the DEGUM is to provide colleagues specialized in senology with a current catalog of ultrasound criteria and assessment categories as well as best practice recommendations for the various ultrasound modalities., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Competing Interests: The authors declare that they have no conflict of interest.

Postpartum hemorrhage (PPH) is one of the main causes of maternal deaths even in industrialized countries. It represents an emergency situation which necessitates a rapid decision and in particular an exact diagnosis and root cause analysis in order to initiate the correct therapeutic measures in an interdisciplinary cooperation. In addition to established guidelines, the benefits of standardized therapy algorithms have been demonstrated. A therapy algorithm for the obstetric emergency of postpartum hemorrhage in the German language is not yet available. The establishment of an international (Germany, Austria and Switzerland D-A-CH) "treatment algorithm for postpartum hemorrhage" was an interdisciplinary project based on the guidelines of the corresponding specialist societies (anesthesia and intensive care medicine and obstetrics) in the three countries as well as comparable international algorithms for therapy of PPH.The obstetrics and anesthesiology personnel must possess sufficient expertise for emergency situations despite lower case numbers. The rarity of occurrence for individual patients and the life-threatening situation necessitate a structured approach according to predetermined treatment algorithms. This can then be carried out according to the established algorithm. Furthermore, this algorithm presents the opportunity to train for emergency situations in an interdisciplinary team.

Purpose: Comparison of three algorithms (DoE 2007 and DoE 2011 algorithm of the FMF Germany and MoM algorithm of the FMF UK) in first trimester biochemical screening for trisomy 21 based on maternal and gestational age, free ß-hCG, and PAPP-A and assessment of relevant maternal characteristics., Materials and Methods: Data from 22 449 euploid singleton pregnancies undergoing combined screening for trisomy 21 at 11 to 13 weeks of gestation were examined. The measured maternal free β-hCG and PAPP-A concentrations were converted into DoE 2007 and DoE 2011 values according to the algorithm of the FMF Germany and into MoM values according to the algorithm of the FMF UK. In each pregnancy, patient-specific risks and false-positive rates (FPR) were computed according to the three algorithms and were stratified according to gestational age, maternal ethnicity, maternal weight, and smoking status., Results: Free ß-hCG and PAPP-A MoM and DoE 2011 were acceptably independent from maternal characteristics and gestational age, while there was a strong relationship between maternal weight and the DoE 2007 values. For a risk cut-off that corresponds to an overall 5 % FPR rate for each algorithm, the FPR in each group were around 5 % at gestational week 11 - 13. The FPR of the DoE 2007 algorithm increased linearly with maternal weight from 3.6 % in women of 50 kg or less to 11.8 % in women of more than 110 kg., Conclusion: Especially maternal weight has a significant impact on the risk calculation. In contrast to the DoE 2007 algorithm, the DoE 2011 and MoM algorithms both adjust for maternal weight., (© Georg Thieme Verlag KG Stuttgart · New York.)

Introduction: Foetal megacystis (incidence 1:1 500) occurring in the first trimester may already be a sign of congenital malformation. Often, urethral valves are causally responsible in male foetuses far more frequently than urethral atresia. As a further differential diagnosis, the "prune-belly syndrome" needs to be distinguished. Far more difficult to classify prenatally is the rare MMIHS which, in contrast to the diagnosis of urethral valves, is associated with an unfavourable prognosis., Case Report: This is a report on a 28-year-old IG/0P, whose foetus of 26+4 gestational weeks was found on ultrasonography for the first time to have a megacystis of 48 mm diameter and bilateral hydronephrosis. The female foetus was surrounded by a normal amount of amniotic fluid which, during the further course of the pregnancy, developed into polyhydramnios. The serial puncture of the urinary bladder showed a normal karyotype and no impairment of the renal concentrating capacity or of protein loss. By reason of an immense enlargement of the abdomen due to the 100 mm large urinary bladder, a Caesarean section was conducted at 36+0 gestational weeks. A catheter could be inserted into the urinary bladder postpartum easily. However, nourishment was not possible and after radiological examination, MMIHS was diagnosed., Conclusion: In the case of a foetal megacystis detected by ultrasonography, especially associated with polyhydramnios and female gender, the rare MMIHS, which is infaust, should be taken into consideration., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background: The group of the so-called late preterms (infants born at 34 0/7-36 6/7 weeks gestational age) has been underestimated with respect to their neonatal outcome. Among infants born before the 29th week of pregnancy, a gender-specific difference in favour of females regarding morbidity became evident. The aim of this study is to investigate whether these findings are transferable to the group of late preterms., Methods: The neonatal outcome of 528 consecutive singletons, born at 34 0/7-36 6/7 weeks gestational age and requiring intensive care, was examined., Results: Neonatal complications have been particularly analysed with regard to gender-specific differences. Boys (n=292) were significantly more frequently affected by sepsis (3.8 vs. 0.9%; p=0,0314, x²-test). Girls had significantly longer stays in the neonatal intensive care unit (median 12 (Q1:8; Q3:17) vs. 11 (6;16) days; p=0.0149, t-test). In a multiple logistic regression model, male gender and premature rupture of membranes were borderline significant with respect to the occurrence of sepsis - boys had a 4.4-fold risk (OR=0.228 [95% CI: 0.050-1.041]; p=0.0564) and premature rupture of membranes had a 3.5-fold risk (OR=3.462 [0.938-12.779]; p=0.0623). Strong cause variables for the length of stay in the neonatal intensive care unit were birth weight, gestational age and premature rupture of membranes after adjustment., Conclusion: The influence of foetal gender on the neonatal outcome in the late preterm group (34 0/7-36 6/7 gestational age) has been relativised., (© Georg Thieme Verlag KG Stuttgart · New York.)

Purpose: The aim was to evaluate the accuracy of BI-RADS categories 3 - 5 in breast ultrasound (US) as the first-line imaging method., Materials and Methods: 5077 examinations of a consecutive, unselected and mixed collective of symptomatic and asymptomatic patients were performed. Of these examinations, 835 cases of BIRADS 3 - 5 could be analyzed., Results: The PPV with respect to a malignant lesion for BI-RADS 3, 4, 5 was 0.03, 0.48, and 0.97, respectively. When BI-RADS 4 and 5 cases are considered to be suspicious, the ratio of benign to malignant findings corresponds to 1:1.8. Analyzing BIRADS 3 - 5 lesions, the sensitivity, specificity and accuracy are 0.92, 0.85, and 0.87, respectively., Conclusion: The data support the feasibility of US for discriminating malignant from benign findings corresponding to the ACR BI-RADS classification without excessively increasing the number of unnecessary biopsies., (© Georg Thieme Verlag KG Stuttgart · New York.)

Aim: In the algorithm developed by the Fetal Medicine Foundation (FMF) Germany designed to evaluate the findings of routine first-trimester screening, the false-positive rate (FPR) was determined for the entire study group without stratification by maternal weight. Based on the data received from the continuous audit we were able to identify an increase in the FPR for the weight-related subgroups of patients, particularly for patients with extremely high body weights. The aim of this study was to demonstrate that the variability of the FPR can be reduced through adjusting the concentrations of free β-HCG and PAPP-A measured in the maternal serum by means of a nonlinear regression function modeling the dependence of these values on maternal weight., Material and Methods: The database used to establish a version of the algorithm enabling control of the FPR over the whole range of maternal weight consisted of n = 123 546 pregnancies resulting in the birth of a child without chromosomal anomalies. The group with positive outcomes covered n = 500 cases of trisomy 21 and n = 159 trisomies 13 or 18. The dependency of the serum parameters free β-HCG and PAPP-A on maternal weight was analyzed in the sample of negative outcomes by means of nonlinear regression. The fitted regression curve was of exponential form with negative slope. Using this model, all individual measurements were corrected through multiplication with a factor obtained as the ratio of the concentration level predicted by the model to belong to the average maternal body weight of 68.2 kg, over the ordinate of that point on the regression curve which belongs to the weight actually measured. Subsequently, the totality of all values of free β-HCG and PAPP-A corrected for deviation from average weight were used as input data for carrying out the construction of diagnostic discrimination rules described in our recent paper for a database to which no corrections for over- or under-weight had been applied. This entailed in particular the construction of new reference bands for the corrected biochemical values as the basis for calculating the degree of extremeness (DOE) measures to replace the more traditional MOMs. In the final and most crucial step, stratified FPRs were computed and compared over a set of intervals partitioning the whole range of maternal weight into 18 classes., Results: For the posterior risks of both trisomy 21 and 13 / 18 computed from the weight-corrected database, the use of a cutoff value of 1:150 turned out to be an appropriate choice. For T 21, the overall FPR obtained through comparing the individual risks with this cutoff was found to be 3.51 %. The corresponding proportion of ascertained cases of trisomy 21 detected by means of the new algorithm was 86.2 %. For the trisomy 13 / 18 group, the analogous results were a FPR of 2.07 % and a detection rate (DTR) of 83.0 %, respectively. A comparison between the FPRs obtained for the 18 intervals into which the range of maternal weight had been partitioned, showed the deviation of the strata-specific from the overall FPR to be fairly small: for T 21, the FPR ranged from 2.72 to 4.86 %, and the maximum was found in the group of 87.5 - 95.0 kg. For women with a weight of more than 120 kg, the FPR was only slightly above the FPR for the total sample (3.69 as compared to 3.51 %). Similar results were obtained for the discrimination rule constructed for diagnosing T 13 / 18: here, the minimum FPR (1.17 %) was found for patients weighing more than 120 kg, whereas the maximum (2.66 %) occurred in the interval 75.0 - 77.5 kg., Conclusion: In this study we demonstrated that the new algorithm developed by the FMF Germany to estimate risks for fetal trisomies 21 and 13 / 18 combines very good misclassification rates with a far-reaching stability of the false-positive rate against even extreme deviations from the average maternal weight., (© Georg Thieme Verlag KG Stuttgart · New York.)

Purpose: First-trimester screening at 11 - 14 weeks has been proven to be very useful in the early detection of chromosomal defects. The aim of this project was to develop a CE-certified new risk calculation program (PRC = Prenatal Risk Calculation) using a nationwide database., Materials and Methods: The database underlying the new risk calculation procedure was established in Germany from 2003 through 2006. Overall, the database includes measurements from 70,030 pregnant women having given birth to healthy children. Following consideration of all pregnancies associated with a chromosomally abnormal outcome, the sample size was 451. The algorithm used for calculating the risk of a chromosomally abnormal outcome comprises the following variables: maternal age, crown-rump length (CRL) (restricted to a range from 45 - 84 mm or, equivalently, 11 + 1 - 14 + 0 weeks of gestation), nuchal translucency (NT), as well as the maternal serum parameters PAPP-A (pregnancy associated plasma protein A) and free beta-hCG (free human chorionic gonadotropin). In a preliminary cross-validation study, we applied both the new algorithm and the FMF UK program to an independent sample containing n = 40,568 pregnancies with negative outcome, n = 187 cases of trisomy 21, n = 34 trisomies 18 and n = 13 trisomies 13., Results: Using the primary sample of 70,030 pregnancies with a negative outcome, reference bands were constructed for the sonographic parameter fetal nuchal translucency and the biochemical parameters PAPP-A and free beta-HCG. Instead of MoM values we used "degree of extremeness" (DoE) values. This statistical parameter has been proven to give more precise results than the MoM measure because it assesses the deviation of the actual measurement value from the centre of the reference band expressed as a multiple of the width of the respective band section. The result of the risk calculation is visualized by means of a traffic light graph which allows the patient to comprehend her individual risk at first glance. The red color indicates a high risk, green a low risk, and yellow represents a moderate risk. In our preliminary cross-validation study the detection rate obtained for the German algorithm was 86.6 % for trisomy 21, 94.1 % for trisomy 18 and 92.4 for trisomy 13. The corresponding detection rates obtained with the same data by the FMF UK program were 86.1 %, 82.3 % and 69.2 % throughout. The false-positive rate was 5.0 % throughout., Conclusion: The new risk calculation procedure of the FMF Germany (PRC) has been made available as a CE-certified computer program. In screening for trisomy 21 it yields results comparable to those of the program used by the FMF UK. Regarding the diagnosis of trisomy 13 and 18, even higher detection rates are currently achieved with the German algorithm. Program, data base and license key are available free of charge to registered members of the FMF Germany.

Purpose: Presentation of the suitability of breast ultrasound for detecting DCIS of the breast., Materials and Methods: Review of literature on the topic and description of the sonographic features of DCIS illustrated by cases., Results: Breast ultrasound is currently capable of detecting DCIS with a comparable success rate to that of mammography. The advantages of sonography become obvious in cases of DCIS without microcalcifications and DCIS in dense or very dense breasts. The assessment of the sonographic architecture of the whole lobe, not just circumscribed lesions, is becoming increasingly important., Conclusion: Breast ultrasound represents an important tool for detecting DCIS in addition to mammography.

Objective: To assess perinatal outcome in monochorionic twin pregnancies according to different stages of severe mid-trimester twin-twin transfusion syndrome managed by fetoscopic laser coagulation of the placental vascular anastomoses., Methods: In a prospective study fetoscopic laser therapy was performed in 200 consecutive pregnancies with severe mid-trimester twin-twin transfusion syndrome at a median gestational age of 20.7 weeks (range 15.9-25.3 weeks). Outcome data were analyzed for the whole group and separately for each stage according to the Quintero staging system., Results: The overall survival rate was 71.5% (286/400), with survival of both twins in 59.5% (119/200) and survival of at least one of the twins in 83.5% (167/200). The median gestational age at delivery of liveborn neonates was 34.3 weeks (range 23.1-40.4 weeks). There was a significant trend toward reduced survival rates with increasing stage (P=.038). The percentage of pregnancies with survival of both fetuses was 75.9% (22/29) for stage I, 60.5% (49/81) for stage II, 53.8% (43/80) for stage III, and 50% (5/10) for stage IV. At least one of the twins survived in 93.1% (27/29) at stage I, 82.7% (67/81) at stage II, 82.5% (66/80) at stage III, and 70% (7/10) at stage IV. The overall survival rate for donor fetuses was 70.5% (141/200) and for recipient fetuses, 72.5% (145/200)., Conclusion: These data show that laser therapy is an effective therapeutic option for all stages of severe twin-twin transfusion syndrome and provide information to counsel patients according to the stage of the syndrome.

Objectives: To assess the natural history and perinatal outcome in monochorionic diamniotic twin pregnancies with discordant amniotic fluid volume without signs of severe twin-twin transfusion syndrome (TTTS)., Methods: This was an observational study of 84 consecutive monochorionic twin pregnancies which did not meet the criteria for severe TTTS and endoscopic laser coagulation of placental anastomoses at initial presentation. The population was subdivided into two groups. Group 1 consisted of 64 pregnancies (median gestational age, 20.1 (range, 15.6-24.7) weeks) with amniotic fluid discordance and no signs of congestive heart failure in the twin with the larger amniotic fluid volume (Twin 1) and positive end-diastolic flow in the umbilical artery of the twin with the smaller amniotic fluid volume (Twin 2). Group 2 (median gestational age, 19.1 (range, 16.0-24.4) weeks) consisted of 20 pregnancies with amniotic fluid discordance and intrauterine growth restriction (IUGR) (abdominal circumference < 5th percentile) in combination with absent or reversed end-diastolic (ARED) flow in the umbilical artery of Twin 2. After exclusion of one patient from Group 1, who opted for termination of pregnancy, nine patients in Group 1 and one in Group 2 developed severe TTTS, and laser coagulation was offered. The remaining 54 pregnancies of Group 1 were compared with the remaining 19 pregnancies of Group 2., Results: Fetuses in Group 1 showed significantly higher survival rates (overall survival, 100/108 (92.6%) vs. 23/38 (60%), P < 0.0001; survival of both fetuses, 49/54 (90.7%) vs. 9/19 (47.4%), P = 0.0002) and median gestational age at delivery (33.6, (range, 27.6-37.8) weeks vs. 32.0 (range, 26.9-36.3) weeks, P = 0.0457). Overall, there was a significantly higher incidence of complications, defined as necessity for intrauterine intervention, fetal or neonatal death or delivery prior to 32 weeks, in Group 2 (Group 1: 30/63 (47.6%); Group 2: 16/20 (80%), P = 0.0188)., Conclusions: Our data suggest that amniotic fluid discordance in monochorionic diamniotic twin pregnancies in combination with IUGR and umbilical artery ARED flow in one fetus represents an extremely high-risk constellation for adverse pregnancy outcome.

Objective: To investigate whether pulsatility of ductus venosus (DV) flow velocity waveforms is of diagnostic value in predicting survival in fetuses with congenital heart disease (CHD)., Methods: In a cross-sectional study, Doppler investigation of DV and umbilical artery blood flow was performed in 58 fetuses with isolated structural CHD, without other sonographically detectable structural or chromosomal abnormalities or tachyarrhythmia. The pulsatility index for veins of DV (DV-PIV) waveforms was expressed as multiples of the 95th centile (Mo95th) of the reference ranges for gestational age. The PIV was related to intrauterine and neonatal mortality within the first 6 months of life. Terminations of pregnancies and neonates with additional abnormalities detected after birth were excluded from statistical analysis. For statistical analysis, the different types of heart defects were separated into atrial and/or ventricular (AV) septal defects, right or left ventricular in- and outflow tract abnormalities and others., Results: After exclusion of 9 pregnancies (2 cases with failure of measurements of DV-PIV, 2 neonates with additional malformations, and 5 terminations of pregnancies), 49 cases were available for statistical analysis. The umbilical artery pulsatility index was within normal ranges in all but 1 case with AV canal and hydrops. In 7 pregnancies intrauterine fetal deaths occurred and 6 of them were hydropic. The median gestational age at birth for liveborn neonates was 39.0 weeks (range 27.8-41). There were 6 postnatal deaths, all but 1 within 28 days of delivery. The remaining fetuses survived for at least 6 months. The overall mortality rate was 27% (13/49). The DV-PIV was significantly higher in non-survivors than in survivors (median of Mo95th and interquartile ranges 1.48 (1.04-1.95) vs. 0.81 (0.70-1.15); p = 0.01). Analysis of subgroups showed significant differences for AV septal defects and abnormalities affecting predominantly the right ventricle (p = 0.046 and 0.043, respectively). Ten out of 13 non-survivors showed an abnormal DV-PIV (sensitivity 77%) as compared to 12 out of 36 survivors (specificity 67%). All hydropic fetuses (n = 6) showed an abnormal DV-PIV and ended in intrauterine deaths., Conclusions: Evaluation of the DV pulsatility is a useful additional variable for predicting the risk for mortality in fetuses with isolated structural CHD, in particular in fetuses with defects of the AV septum and with defects affecting predominantly right ventricular function. As there is no fetal hydrops without abnormal DV, this is another sign for the association of DV and cardiac failure., (Copyright (c) 2005 S. Karger AG, Basel.)

Obstetrical ultrasound is practised in Germany, Austria and Switzerland as a screening examination for all pregnancies. Although the reasons for its introduction in Germany in 1981 were dating of pregnancy, detection for multiple pregnancies and detection of intrauterine growth retardation, its aims has shifted towards the detection of fetal malformations when the 3-point obstetrical screening was introduced in 1995. To produce a realistic quality for this large number of examiners, a multi-level system was introduced. Today, contents and quality requirements of the 3 screening examinations (at 10/20/30 weeks), the 3 levels of examination and of the ultrasound equipment can be defined. This should help optimize the still insufficient quality of obstetrical ultrasound and reduce unrealistic expectations.

To determine the positive predictive value of breast ultrasound (US) categories and US features, isolated and in combination, 398 consecutive sonographically diagnosed breast tumours with histologic or cytologic diagnosis were reviewed. Tumour characterisation and the sonographer's diagnoses were recorded prospectively using the diagnostic classification of the European Society of Mastology (EUSOMA) (U2 = probably benign lesion, U3 = an abnormality present of indeterminate significance, U4 = features suspicious of malignancy). In addition, based on the likelihood of malignancy of each US characteristic, a diagnostic score was developed. These two measures were compared. US-guided biopsy revealed 338 benign and 60 (55 invasive and 5 noninvasive) malignant lesions. EUSOMA and diagnostic score classifications did not differ significantly. If all breast tumours classified U3 and U4 were to be tested, every second biopsy (48.3%) would have revealed a carcinoma with a negative predictive value of 99.3%. The frequency of carcinoma in sonographically benign lesions (U2 or score 1) was 0.7 and 2.2%, respectively, an incidence similar to that with mammographic lesions classified as BI-RADS 3 (Breast Imaging Reporting and Data System, probably benign, short interval follow-up suggested). Thus, given that clinical symptoms and real-time imaging influence the sonographer's interpretation, the proposed diagnostic score can improve the diagnostic accuracy of the breast sonogram with the result of reducing invasive testing and maintaining a high detection rate.

Aim: New evaluation of breast ultrasound based upon review of new literature comparing ultrasound and mammography., Method: Description and discussion of the published trials regarding breast imaging methods., Results: Breast ultrasound is the preferable method in the case of a symptomatic patient (after clinical examination). In the case of a patient without symptoms (screening), breast ultrasound is ascribed a higher sensitivity for detecting breast cancer in women with dense breast tissue, women under the age of 50 and high-risk women. Mammographically occult cancers can be detected by sonography in 10 to 40 % of the cases depending on the patient's breast density and age. The mean size of cancers detected only by ultrasound is not significantly different to that only detected by mammography. The prevalence of breast cancers detected by ultrasound is approximately equal to the one detected by mammography, regarding the total number of examined patients., Conclusions: Breast ultrasound should be the preferred imaging procedure in the case of a palpable lump, leading to a definitive diagnosis itself or with an additional consecutive core needle biopsy. For women without symptoms, breast sonography should be mandatory and complementary to mammography in the case of breast density grade II (BI-RADS) or more. Application of breast ultrasound as a primary method or an alternative to mammography has not yet been evaluated sufficiently. It seems advisable in the case of women with dense breast tissue grade III and IV, women under the age of 50 and high-risk women. The implementation of breast ultrasound in this manner has to be checked by future trials.

Objective: To investigate the concentrations of metabolic variables in the amniotic fluid of the recipient twin and maternal blood and to correlate them with clinical features, which are characteristic for the course of pregnancies with twin-twin transfusion syndrome (TTS)., Materials and Methods: In 109 pregnancies with severe mid-trimester TTS, we measured the concentrations of interleukin-6 (IL-6), alpha-fetoprotein (AFP), sodium, potassium, total protein, beta2-microglobulin and osmolality in the amniotic fluid of the recipient twin prior to laser coagulation of the vascular anastomoses and compared them to a control group of 92 singleton pregnancies. We measured the pulsatility index (PI) of ductus venosus flow velocity waveforms in the recipient twin and performed a retrospective chart analysis for complete maternal blood count before and after the procedure., Results: All variables, except osmolality, IL-6 and AFP were significantly lower in the TTS group. There was a significant positive correlation between PI in the ductus venosus and the amniotic fluid AFP concentrations (r = 0.355; p < 0.001). There was a significant fall in complete maternal blood count after laser therapy (p < 0.001) and a significant correlation between the amount of amniotic fluid drained and the fall of maternal Hb (r = -0.261; p = 0.03) and hematocrit (r = -0.212; p = 0.01)., Conclusion: Pathophysiologic changes in TTS do not only occur at the inter-twin level of placental vascular anastomoses but also at the materno-fetal level of fluid exchanges. AFP is correlated to the severity of congestive heart failure of the recipient twin., (2004 S. Karger AG, Basel.)

Objective: The aim of this study was to evaluate the use of three-dimensional (3D) ultrasonography in the complete excision of benign breast tumors using ultrasound-guided vacuum-assisted core-needle biopsy (Mammotome). A protocol for the management of benign breast tumors is proposed., Method: Twenty consecutive patients with sonographically benign breast lesions underwent 3D ultrasound-guided mammotome biopsy under local anesthesia. The indication for surgical biopsy was a solid lesion with benign characteristics on both two-dimensional (2D) and 3D ultrasound imaging, increasing in size over time or causing pain or irritation. Preoperatively, the size of the lesion was assessed using 2D and 3D volumetry. During vacuum biopsy the needle was visualized sonographically in all three dimensions, including the coronal plane. Excisional biopsy was considered complete when no residual tumor tissue could be seen sonographically. Ultrasonographic follow-up examinations were performed on the following day and 3-6 months later to assess residual tissue and scarring., Results: All lesions were histologically benign. Follow-up examinations revealed complete excision of all lesions of < 1.5 mL in volume as assessed by 3D volumetry. 3D ultrasonographic volume assessment was more accurate than 2D using the ellipsoid formula or assessment of the maximum diameter for the prediction of complete excision of the tumor. No bleeding or infections occurred postoperatively and no scarring was seen ultrasonographically on follow-up examinations., Conclusions: Ultrasound-guided vacuum-assisted biopsy allows complete excision of benign breast lesions that are

Objective: To examine the effectiveness of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation in Germany, Austria and Switzerland., Methods: This was a multicenter study of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. All the sonographers involved in the study had received The Fetal Medicine Foundation Certificate of Competence in the 10-14-week scan. Fetal nuchal translucency thickness and crown-rump length were measured in 23 805 singleton pregnancies with live fetuses. In each case the risk for trisomy 21 was estimated on the basis of maternal age and fetal nuchal translucency thickness for crown-rump length with the use of The Fetal Medicine Foundation's software. The distribution of estimated risk was determined and the sensitivity and false-positive rate for a risk cut-off of 1 in 300 was calculated., Results: Fetal nuchal translucency thickness was successfully measured in all 23 805 pregnancies and outcome was available in 21 959. The median maternal age was 33 (range 15-49) years and in 7935 (36.1%) the age was 35 years or greater. The median gestation at screening was 12 (10-14) weeks and the median fetal crown-rump length was 61 (range 38-84) mm. The estimated risk for trisomy 21 based on maternal age and fetal nuchal translucency thickness for crown-rump length was 1 in 300 or greater in 13.0% (2800 of 21 475) normal pregnancies, in 87.6% (184 of 210) of those with trisomy 21 and in 87.2% (239 of 274) with other chromosomal defects., Conclusions: In Germany, Austria and Switzerland the results of screening for chromosomal defects by measurement of fetal nuchal translucency thickness, in centers with appropriately qualified sonographers and using The Fetal Medicine Foundation's software, are similar to those reported in the UK using the same methodology.

Objective: To describe the time sequence of changes in fetal monitoring variables in intrauterine growth restriction and to correlate these findings with fetal outcome at delivery., Methods: This was a prospective longitudinal observational multicenter study on 110 singleton pregnancies with growth-restricted fetuses after 24 weeks of gestation. Short-term variation of fetal heart rate, pulsatility indices of fetal arterial and venous Doppler waveforms and amniotic fluid index were assessed at each monitoring session. The study population was divided into two groups: Group 1 comprised pregnancies with severely premature fetuses, which were delivered < or =32 weeks and Group 2 included pregnancies delivered after 32 completed weeks. Logistic regression was used for modeling the probability for abnormality of a variable in relation to the time interval before delivery. Trends over time were analyzed for all variables by multilevel analysis., Results: Ninety-three (60 in Group 1 and 33 in Group 2) fetuses had at least three data sets (median, 4; range, 3-27) and had the last measurements taken within 24 h of delivery or intrauterine death. The percentage of abnormal test results and the degree of abnormality were higher in Group 1 compared to Group 2. Amniotic fluid index and umbilical artery pulsatility index were the first variables to become abnormal, followed by the middle cerebral artery, aorta, short-term variation, ductus venosus and inferior vena cava. In Group 1, short-term variation and ductus venosus pulsatility index showed mirror images of each other in their trend over time. Perinatal mortality was significantly higher if both variables were abnormal compared to only one or neither being abnormal (13/33 (39%) vs. 4/60 (7%); P = 0.0002; Fisher's exact test)., Conclusion: Ductus venosus pulsatility index and short-term variation of fetal heart rate are important indicators for the optimal timing of delivery before 32 weeks of gestation. Delivery should be considered if one of these parameters becomes persistently abnormal.

The aim of this study was to describe the type and number of placental vascular anastomoses identified during fetoscopic laser coagulation in severe mid-trimester twin-twin transfusion syndrome (TTS). In 126 patients with severe TTS, undergoing fetoscopic laser coagulation between 16 and 25 weeks of gestation, the different types of placental anastomoses [arterio-venous (AV), arterio-arterial (AA) and veno-venous (VV)] were counted. In cases of AV anastomoses their direction was identified and four groups were defined: in group 1 there were only anastomoses shunting from donor to recipient. Group 2 consisted of placentae with more anastomoses shunting from donor to recipient than in the opposite direction, group 3 showed an equal number in both directions and in group 4 there were more anastomoses shunting from recipient to donor than in the opposite direction. In 9 cases (7 per cent) the anastomoses could not be clearly identified due to impaired visualization, leaving 117 cases for analysis. The median number of anastomoses found was 5 with a range from 1-14. In all cases AV anastomoses from donor to recipient were present, 36 cases (31 per cent) had also AA anastomoses and 14 cases (12 per cent) showed VV anastomoses. Regarding the direction of AV anastomoses, the results were as follows: there were 35 cases (30 per cent) in group 1, 52 cases (44 per cent) in group 2, 14 cases (12 per cent) in group 3 and 16 cases (14 per cent) in group 4. In 54 (46 per cent) placentae there was at least one thin anastomosis whose type was unclassifiable. There were no placentae showing AV anastomoses only from the recipient to the donor fetus. This study demonstrates that AV anastomoses are the prerequisite for the development of TTS in monochorionic placentae. The majority (74 per cent) of cases showed a higher number of AV anastomoses from donor to recipient than in the opposite direction. In approximately one third of placentae there are also AA anastomoses and the overall number of anastomoses seen and coagulated during fetoscopy is higher than reported in postnatal studies., (Copyright 2001 Harcourt Publishers Ltd.)

Objectives: Nuchal translucency measurement of 3 mm or more (> or = 95th centile for gestation age), hydrops fetalis or hygroma colli between the 11th and 14th weeks of gestation is associated with a higher risk of fetal Down syndrome and other aneuploidies. So far, chromosome preparation of chorionic villi samplings (CVS) after short-term (or direct) culture is the only valid, reliable and rapid method of choice for the early detection of chromosomal aberrations. However, because of the placental mosaicisms detected after short-term culture, CVS has to be confirmed by a second method. Moreover, short-term villi preparation does not always provide a sufficient quantity and quality of metaphases to enable cytogenetic analysis. Unfortunately, a predicative cytogenetic result will be available only after long-term cultivation (usually after 1-2 weeks). An alternative rapid method, inexpensive and suitable for diagnosing autosomal trisomies, is the quantitative fluorescence polymerase reaction (QF-PCR) using different polymorphic small tandem repeats (STRs) on CVS-DNA. Therefore, it was the aim of the study to evaluate whether a new CVS test strategy could be employed in early pregnancies at high risk after the rapid detection of fetal chromosomal abnormalities by QF-PCR for chromosomes 13, 18 or 21 and sexing in conjunction with short-term chromosome analysis., Materials: Nineteen CVS were chosen for QF-PCR detection of trisomy 21, 18 or 13 after an increased nuchal translucency measurement (> or = 95th centile for gestation age), a hydrops fetalis or a hygroma colli. The amelogenin locus of chromosomes X and Y (AMXY) were used for sexing. The QF-PCR results were compared with routine karyotyping after short- and/or long-term cultivation of CVS cells., Results: An informative result was demonstrated in all analysed specimens. Nine CVS were diagnosed as a QF-PCR trisomy either for chromosome 21, 18 and 13. The pathological samples also included 4 cases of mosaicism where the normal cell line was not identified by QF-PCR. In 1 additional case with a normal QF-PCR result, short-term CVS chromosome analysis showed a mosaic trisomy 13, whereas longterm CVS culture revealed a normal karyotype. The malformed aborted fetus showed no clinical signs of trisomy 13, confirming the normal results obtained by QF-PCR and long-term CVS chromosome analysis. One pregnancy with a Turner syndrome was not identified by molecular analysis., Conclusions: This study showed that all early pregnancies with a clinically relevant autosomal trisomy could be detected prenatally in routine practice by QF-PCR. The combined use of both rapid methods - QF-PCR and short-term chromosome analysis - optimise the results by minimising the possibility of false-positive or false-negative findings. We believe that after verification of a pathological result obtained by two independent methods (QF-PCR and short-term CVS chromosome analysis), long-term villi cultivation is no longer necessary. However, in all cases with discrepancies, especially in samples with mosaic findings at short-term CVS cultivation, further studies are still necessary., (Copyright 2001 S. Karger AG, Basel)

We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna. Due to the poor prognosis, the parents opted for termination of pregnancy. A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. There was also micropolygyria indicating migration disorder. Cytogenetic studies showed a 47,XX,+der(9)t(7;9) (q35;q22.2)mat karyotype. Investigation of the parents revealed a translocation (7;9) (q35;q22.2) in the mother and a normal male karyotype in the father. We systematically searched the chromosome 9 gene map for genes that were trisomic in our fetus and genes that were located on the regions that had the normal two copies of genes. Genes that could potentially be involved in the formation of the Dandy-Walker phenotype are transcription factors or genes responsible for the regulation of normal in particular cerebral development but also adhesion molecules. We conclude that one cause for Dandy-Walker malformation could be a gene dosage effect of genes located on 9pter-9q22. In addition, it seems that absence of trisomy 9 in q22-pter does not prevent abnormal cerebellar development., (Copyright 2000 Wiley-Liss, Inc.)

Objective: To determine the diagnostic performance of SonoVue (Bracco) in the enhancement of Doppler signals in breast lesions and in the improvement of diagnostic accuracy., Methods: This multicenter study included 220 patients undergoing investigations of parenchymal lesions, 40 of which had breast tumors. After a baseline Doppler examination, intravenous doses of 0.3, 0.6, 1.2 and 2.4 ml SonoVue were injected. Doppler signal quality before and after injection was compared. Off-site assessment of the global quality of Doppler signal and duration of clinical useful enhancement, as well as off-site and on-site evaluation of quality of color and spectral Doppler, were performed. On-site evaluation of diagnostic accuracy was also carried out. Safety assessments included monitoring of adverse events up to 24 h following the last injection of SonoVue., Results: On-site evaluations: baseline Doppler was conclusive in only 4/21 carcinomas and in 2/17 benign lesions. Enhanced Doppler improved differential diagnosis in 20/21 carcinomas and in 9/12 benign lesions. Time to color enhancement was 0.55 min for the lowest and 0.35 min for the highest dose. The total duration of enhancement was 3.47 min for the lowest and 5.62 min for the highest dose, respectively. Off-site assessment: SonoVue improved the quality of Doppler blood flow information both in parenchymal and focal lesions. Statistically significant changes from baseline in global quality of Doppler investigations were observed at all four SonoVue doses (P<0.05). The duration of clinically useful signal enhancement increased with doses and a significant dose relationship was obtained (P<0.001). Mild adverse events were observed in two patients only., Conclusion: The results obtained from this study, following both off-site and on-site assessment, demonstrate that the administration of SonoVue to patients with focal breast lesions provides significant improvement over the baseline of Doppler signal quality and a clinically useful duration of signal enhancement, related to the dose. SonoVue was shown to be a safe and well-tolerated compound.

Objective: To investigate perinatal outcome after endoscopic laser coagulation of the placental vascular anastomoses in severe mid trimester twin-to-twin transfusion syndrome (TTTS)., Study Design: In a prospective study between January 1995 and September 1999, we performed laser therapy in 200 consecutive pregnancies with TTTS between 16 and 25 weeks of gestation. We compared outcome of the first group of 73 pregnancies whose outcome has been reported previously in a study comparing laser surgery and serial amniodrainages [Am J Obstet Gynecol 1999;180:717-24], with the following group of 127 patients., Results: The overall survival rate increased from 61% (89/146) in group 1 to 68% (172/254) in group 2. The percentage of pregnancies with survival of both fetuses was 42% (31/73) in group 1 and increased to 54% (69/127) in group 2 (P=0.142). The survival rate for at least one fetus was 81% (103/127) in group 2. The median gestational age at delivery of liveborn babies was 33.7 weeks in group 1 and 34.4 weeks in group 2 with a median interval of 13 weeks between the intervention and delivery., Conclusion: This study of a large population of pregnancies with severe second trimester twin-to-twin transfusion syndrome confirms the improvements of outcome after laser therapy as compared to serial amniodrainages reported previously. Furthermore, it shows a trend towards an increase in survival rates with growing experience in this technique, most likely attributable to a more selective identification and efficient coagulation of the placental vascular anastomoses.

A quantitative fluorescent-polymerase chain reaction (QF-PCR) test system with different short tandem repeat (STR) markers of the X chromosome (SBMA, DXS8377 and DXS1283E) together with the amelogenin locus (AMXY) was developed for the rapid detection of sex chromosome aneuploidies on uncultured amniotic fluids. The samples (n = 662) were also tested with STRs specific for chromosomes 13, 18 or 21, with two STRs used for each chromosome. In uninformative cases, an additional STR marker was applied. The QF-PCR data were compared with the results of conventional cytogenetics. One dark red stained specimen showed an artificial PCR pattern, probably due to maternal contamination. Six sex chromosome aberrations (four 45,X, one 47,XXY, one mosaic 47,XXY/46,XX) were identified as aneuploid by STRs specific for chromosome X and AMXY. One pregnancy with a mosaic 45, X/46,XX karyotype was not detected by the assay. In all, 12 cases with a numerical aberration involving either chromosome 18 or 21 or with a triploidy were correctly diagnosed by QF-PCR. No information was obtained in one fetal sample with a trisomy 18 due to an uncertain result for two of the three applied STRs specific for chromosome 18 and an uninformative third STR marker. Two samples with an unbalanced Robertsonian translocation could be identified by QF-PCR as trisomic for chromosomes 13 and 21 respectively. The results show an excellent agreement between QF-PCR and cytogenetics with regard to sex chromosome and autosomal aneuploidy detection in prenatal diagnosis.

Objective: The aim of this study was to investigate clinical and sonographic parameters, in particular Doppler blood flow measurements, in severe second-trimester twin-twin transfusion syndrome before and after endoscopic laser coagulation of the placental vascular anastomoses, to correlate these data with fetal outcome and to determine whether fetal blood flow measurements could help to estimate the probability of fetal survival., Methods: In 121 cases of severe twin-twin transfusion syndrome examined between 17 and 26 weeks of gestation, the following investigations were performed: fetal biometry, placental location, deepest pool of amniotic fluid, echocardiography and Doppler sonography of the umbilical arteries and the ductus venosus of both twins before and after fetoscopic laser ablation of the placental anastomoses., Results: The overall survival rate was 64% (156/242). Both fetuses survived in 48% (58/121) and one fetus survived in 33% (40/121), resulting in 81% (98/121) of pregnancies with at least one survivor. Gestational age at the time of the procedure and placental location had no significant influence on fetal survival. The amniotic fluid volume drained after laser coagulation correlated significantly (p = 0.038) with the risk of miscarriage or extremely premature delivery within 4 weeks of the procedure. Intertwin discrepancy in abdominal circumference showed a significant negative correlation (p = 0.004) with the probability for survival of donor fetuses. Before the procedure, 19% (23/121) of donor twins and 5% (6/121) of recipient twins showed absent or reversed end-diastolic flow in the umbilical artery (p = 0.001). This finding had no significant influence on the survival rate of donors. An increase of waveform indices in the umbilical artery 1 day after the procedure compared to immediately after the procedure correlated significantly with a lower probability for survival of donors (p = 0.042) and recipients (p = 0.018). Before the procedure, 37% (45/121) of recipient twins and 9% (10/113) of donor twins showed absent or reversed flow during atrial contraction in the ductus venosus (p < 0.0001). This finding had a significant negative influence on the survival rate of recipient fetuses (p = 0.02). Furthermore, an increase of waveform indices in the ductus venosus 1 day after the procedure compared to immediately after the procedure correlated significantly with a lower probability of survival in recipients (p = 0.005)., Conclusions: Fetoscopic laser coagulation of the placental vascular anastomoses in severe mid-trimester twin-twin transfusion is a potentially corrective and effective, minimally invasive procedure. Doppler investigation of the umbilical and fetal circulations provides important information on the fetal condition, prognosis and therapeutic effects of the intervention. Signs of congestive heart failure in the recipient may reduce the probability of survival, whereas increased placental resistance in the donor before the procedure is not necessarily associated with a reduction in the probability of survival after laser coagulation.

Objective: Severe twin-twin transfusion can be treated by either serial amniocenteses with removal of large volumes of amniotic fluid or by endoscopic laser coagulation of the communicating vessels. We investigated the benefit of laser surgery in comparison to serial amniocenteses in terms of pregnancy outcome., Study Design: The data used in this comparative study were collected from 116 patients with severe twin-twin transfusion syndrome between 17 and 25 weeks' gestation. The patients were grouped according to the treatment center. The first group comprised 73 patients (median gestational age 20.7 weeks) treated in Hamburg by fetoscopic laser coagulation of the vascular placental anastomoses between January 1995 and May 1997. The second group comprised 43 patients (median gestational age 20.4 weeks), fulfilling identical diagnostic criteria and treated in Bonn by serial amniocenteses between 1992 and 1996., Results: The overall fetal survival rate was not significantly different (61%, 89/146, vs 51%, 44/86; P =.239). There was a significantly higher proportion of pregnancies with >/=1 survivor in the laser-treated group (79%, 58/73, vs 60%, 26/43; P =.033). The number of cases with spontaneous intrauterine fetal death of both fetuses was significantly lower in the laser-treated group (3%, 2/73, vs 19%, 8/43; P =.003). The incidence of abnormal ultrasonographic findings in the brain was significantly lower among surviving neonates after laser surgery than after amniocenteses (6%, 5/89, vs 18%, 8/44; P =. 03). For pregnancies with >/=1 live-born baby, a significantly longer interval between first intervention and delivery (median 90 vs 72 days, P =.022) leading to a significantly higher gestational age at delivery (median 33.7 vs 30.7 weeks, P =.018) was observed for the laser-treated group. The birth weights of the donor fetuses were significantly higher in the laser-treated group (median 1750 vs 1145 g, P =.034), and a trend toward higher birth weight was also found for recipient fetuses (median 2000 vs 1560 g, P =.076)., Conclusions: These findings indicate that endoscopic laser coagulation of placental vascular anastomoses offers a more effective alternative to serial amniocenteses as a treatment of severe second-trimester twin-twin transfusion syndrome.