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Biomedical subjects

B J Hackelöer

Publications and source records attributed to B J Hackelöer.

At least 19 recordsLinked to original sources
PubMed2006

Perinatal outcome in monochorionic twin pregnancies complicated by amniotic fluid discordance without severe twin-twin transfusion 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.

Adult↗
PubMed2004

[Re-evaluating the role of breast ultrasound in current diagnostics of malignant breast lesions].

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.

Breast Diseases↗
PubMed2001

Monitoring of fetuses with intrauterine growth restriction: a longitudinal study.

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.

Case-Control Studies↗
PubMed2001

Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland.

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.

Austria↗
PubMed2001

Placental vascular anastomoses visualized during fetoscopic laser surgery in severe mid-trimester twin-twin transfusion syndrome.

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.

Arterio-Arterial Fistula↗
PubMed2000

Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype.

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.

Adult↗
PubMed2000

Endoscopic laser coagulation of placental anastomoses in 200 pregnancies with severe mid-trimester twin-to-twin transfusion syndrome.

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.

Female↗
PubMed2000

A new Doppler signal enhancing agent for flow assessment in breast lesions.

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.

Adult↗
PubMed2000

Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk.

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.

Amniotic Fluid↗
PubMed1999

Endoscopic laser surgery versus serial amniocenteses in the treatment of severe twin-twin transfusion syndrome.

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.

Amniocentesis↗
PubMed1999

Abnormal ductus venosus blood flow: a clue to umbilical cord complication.

We report a case of umbilical cord complication causing, fetal hypoxemia and acidemia. At 30 weeks of gestation, the patient was referred because of slightly increased amniotic fluid volume and a non-reactive cardiotocogram. Biometry was appropriate for gestational age. Umbilical artery and fetal aortic Doppler findings were normal, whereas diastolic blood flow velocities in the middle cerebral artery were increased and the ductus venosus showed severely abnormal flow velocity waveforms with reversal of flow during atrial contraction. Since other reasons for fetal hypoxemia could be excluded, careful examination of the umbilical cord was performed. Traction of the hypercoiled umbilical cord due to its course around the fetal neck and shoulders was suspected. Cesarean section confirmed the sonographic findings and fetal blood gases revealed fetal acidemia. This case indicates that investigation of fetal venous blood flow may also help to identify fetal jeopardy due to reasons other than increased placental vascular resistance.

Acidosis↗
PubMed1999

Prognostic factors in severe twin-twin transfusion syndrome treated by endoscopic laser surgery.

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.

Arteriovenous Anastomosis↗