Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications.

OBJECTIVE: In our center, we observed an increased frequency of right aortic arch (RAA) with an agenesis of the ductus arteriosus (ADA) in prenatally diagnosed tetralogy of Fallot (ToF) and its variations. This study aimed to determine whether there is an association of RAA and ADA in fetuses with ToF. Distribution of genetic anomalies and impact on postnatal outcome were further evaluated. METHOD: Single-center retrospective observational study including pregnancies with prenatal diagnosis of ToF from 2010 to 2023. All cases were subdivided into ToF with pulmonary stenosis (PS) and pulmonary atresia (PA). Clinical and echocardiographic databases were reviewed for pregnancy outcome, genetic anomalies, and postnatal course. RESULTS: The cohort included 169 cases, 124 (73.4%) with ToF/PS and 45(26.6%) with ToF/PA. Agenesis of the ductus arteriosus was significantly associated with RAA in both subtypes of ToF (p = 0.001) compared to left aortic arch and found in 82.5% (33/40) versus 10.7% (9/84) of fetuses with ToF/PS and in 57.1% (8/14) versus 12.9% (4/31) of fetuses with ToF/PA. In both ToF/PS and ToF/PA, RAA/ADA versus RAA/patent DA revealed a significantly higher risk for the presence of genetic abnormalities, especially microdeletion 22q11.2, major aorto-pulmonary collateral arteries and a shorter time to complete surgical repair. CONCLUSION: We demonstrated a significantly increased frequency of RAA/ADA in patients with prenatally diagnosed ToF. Although this association revealed no significant impact on overall survival, the prenatal detection of RAA/ADA has implications for counseling, genetic evaluation and postnatal management.

Shaping ultrasound in midwifery: towards an evidence-based training framework for enhanced prenatal care.

BACKGROUND: Academic advancement of the midwifery profession highlights the need to establish standardized qualifications in obstetric ultrasound diagnosis, being a central part of prenatal care. Thus, introduction of an evidence-based training program is warranted. We aimed to reviewed curriculum designs used in midwifery ultrasound education. METHODS: A systematic literature research was conducted. Embase, PubMed and Google Scholar database was reviewed for publications using the terms "[midwife], [midwives], [midwifery students], [obstetric ultrasound], [midwife sonographer] and [education], [teaching], [program], [course], [curriculum] and [learning]". Papers with full description of curriculum designs or educational programs on obstetrical ultrasound for midwives were included and scrutinized against pre-defined criteria according to the PICO (Population, Intervention, Comparator, Outcomes) scheme. RESULTS: 29 publications were included. Studies demonstrated a significant disparity according to course concepts being used. Differing parameters included: Duration, structure, learning approaches, course content, examination concepts and target groups (practising midwives vs. midwives in education). CONCLUSION: An evidence-based ultrasound educational program for midwives remains to be developed, including further educational guidelines. Clinical applications by midwives, as well as the distinctions from medical practise, particularly in terms of legal considerations, needs to be defined.

Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies-A Twenty-Year Overview.

OBJECTIVE: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). METHODS: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. RESULTS: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. CONCLUSION: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners' awareness may influence optimal multispecialized care.

Evaluation of an OSCE's implementation and a two-step approach for a theoretical and practical training program in Obstetrics and Gynecology.

Objective structured clinical examination (OSCE) is a well-known assessment method to evaluate clinical skills and competence in healthcare. Following the recently reformed National Competence-Based Catalog of Learning Objectives in Medicine, the implementation of this assessment method in the training program for medical students is now obligatory in Germany. This major change requires a reorganization not only of the training programs but also of the students themselves and the way they learn. We performed a poll evaluating the students' opinions regarding these major changes and the implementation of the OSCE with a new training program. To implement this assessment method and to evaluate the OSCE, Kern's six-step approach comprising (1) problem identification and general needs assessment, (2) needs assessment of the targeted learners, (3) goals and objectives, (4) educational strategies, (5) implementation, and (6) evaluation and feedback was applied. To evaluate and gather feedback, a poll was used to analyze the student's opinions regarding OSCE in gynecology and obstetrics and OSCE in general, in addition to the regular analysis of the students' results. To reform the educational strategy, a two-step approach was developed: First, the students completed the regular training program and a written examination, and second, they participated in a 1-week clerkship, in small group teaching, and in the OSCE. The OSCE stations were developed primarily based on the National Competence-Based Catalog and the German Catalog of Learning Objectives in Medicine, as well as on the feedback of experts reflecting their expectations for physicians beginning their careers. The students performed well in the OSCE and gave positive feedback regarding this examination method. Furthermore, they welcomed the upcoming changes by considering OSCE a valuable assessment tool, and they showed appreciation for the two-step approach by supporting the combination of an OSCE and a written examination. Thus, this article presents the implementation of an OSCE and a strategy for the adaptation of the curriculum to fulfill the new OSCE requirements and-to our knowledge-reveals students' primary opinions regarding the changes in their medical training program for the first time.

First Trimester Screening - Current Status and Future Prospects After Introduction of Non-invasive Prenatal Testing (NIPT) at a Tertiary Referral Center.

Objective To investigate the uptake of different components of first trimester screening (FTS) and the impact on invasive diagnostic testing (IPT) since the introduction of non-invasive prenatal testing (NIPT) at a level III center. Methods Retrospective data analysis was conducted for singleton pregnancies that presented for FTS between 01/2019-12/2019 (group 1, n = 990). Patients were categorized into three risk groups: low risk for trisomy 21 (< 1 : 1000), intermediate risk (1 : 101-1 : 1000) and high risk (≥ 1 : 100). Uptake of NIPT and IPT was analyzed for each of the risk groups. Results were compared to a previous cohort from 2012/2013 (immediately after the introduction of NIPT, group 2, n = 1178). Results Group 1 showed a significant increase in the use of NIPT as part of FTS (29.5% vs. 3.7% for group 2, p = 0.001) in all three risk groups. Overall IPT rates were lower in group 1 (8.6%) vs. group 2 (11.3%, p = 0.038), mainly due to a significant reduction of IPT in the intermediate risk group. IPT rates in the high-risk group remained stable over time. Conclusion Appropriate clinical implementation of NIPT is still currently a challenge for prenatal medicine experts. Our data suggest that widespread uptake of NIPT is becoming more common these days; however, a contingent approach might prevent redundant uptake.

Prenatal diagnosis and management of a giant intrahepatic arteriovenous malformation-Sonographic findings, clinical implications, and treatment.

Prenatal detection of complex giant hepatic arteriovenous malformation requires an examination of the affected fetal hemodynamic situation with emphasis on the affected arterial supply pattern. Early pediatric surgeon presentation is needed, as timely surgical intervention appears to be essential.

Intrauterine Valvuloplasty in Severe Aortic Stenosis-A Ten Years Single Center Experience.

Objective: To assess the course and outcome of fetal aortic valvuloplasty (FAV) in fetuses with severe aortic stenosis (SAS) in a single center. Methods: All fetuses with a prenatal diagnosis of SAS with subsequent FAV were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. In the study, period fetuses with SAS were considered suitable for FAV in the presence of markedly elevated left ventricular pressures (maximum velocity of mitral regurgitation (MR Vmax) >250 cm/s and/or maximum velocity of aortic stenosis (AS Vmax) >250 cm/s), retrograde flow in the transverse aortic arch and a left ventricular length Z-score >−1. Results: In the study period 29 fetuses with AS were treated with 38 FAV. If reinterventions are included 82.7% of fetuses received a technically successful FAV. Procedure related death occurred in three (10.3%) cases, spontaneous fetal death in 2 (6.9%), and termination of pregnancy was performed in 3 cases (10.3%). Among the 21 live births (72.4%), four died in infancy. Among the remaining survivors, 8/17 (47.1%) had a biventricular outcome at the age of one year, 8/17 (47.1%) were univentricular and one infant (5.9%) is biventricular at the age of eight months. Fetuses with biventricular outcome had significantly greater left ventricular (LV) length Z-scores (p = 0.031), and lower tricuspid to mitral valve (TV/MV) ratios (p = 0.003). Conclusions: FAV has a high technical success rate and a low rate of procedure related mortality if performed in experienced hands. The success rate of biventricular circulation at the age of one year is moderate and seems to depend rather on the center's experience and postnatal surgical strategies than solely on prenatal selection criteria. In the absence of randomized controlled trials, FAV remains an experimental intervention.

Universal Cell Free DNA or Contingent Screening for Trisomy 21: Does It Make a Difference? A Comparative Study with Real Data.

OBJECTIVE: The aim of the objective was to compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening. METHODS: Retrospective study was carried out at 3 German centers. The study included euploid and trisomy 21 pregnancies where cfDNA and first trimester (FT) screening assessment was carried out. The FT risk for trisomy 21 was computed based on combined screening and stratified into the following classes: high risk ≥1:10, intermediate risk 1:11-1,000, low risk ≤1,001. For universal cfDNA screening, the cfDNA test results were examined. For the contingent screening model, the result of the cfDNA test was taken into account in case of an intermediate FT risk. Different strategies combining maternal age, nuchal translucency, nasal bone, beta-hCG, and PAPP-A were evaluated. Screen positivity was defined as either a high risk after FT screening or a cfDNA test indicating a high-risk result. An inconclusive cfDNA test was also considered as screen positive. RESULTS: The search of the database identified 2,255 euploid and 163 affected pregnancies. All affected fetuses were identified by universal cfDNA screening. 1.3% of the euploid fetuses were classified as screen positive due to final inconclusive cfDNA test result. The detection and false-positive rate of a contingent approach that is based on combined screening and cfDNA screening in the intermediate group would be 98.4% and 0.7%, respectively. With this approach, cfDNA screening would be necessary in only about 27% of all pregnancies. CONCLUSION: This study demonstrates that a contingent approach provides similar detection rates for trisomy 21 as universal cfDNA screening, by a reduction of 73% the number of cfDNA tests.

Prenatal diagnosis of fetal growth restriction with polyhydramnios, etiology and impact on postnatal outcome.

To assess the spectrum of different etiologies, the intrauterine course, outcome and possible prognostic markers in prenatally detected fetal growth restriction (FGR) combined with polyhydramnios. Retrospective study of 153 cases with FGR combined with Polyhydramnios diagnosed by prenatal ultrasound over a period of 17 years. Charts were reviewed for ultrasound findings, prenatal and postnatal outcome. All cases were categorized into etiological groups and examined for differences. Five etiological groups were identified: chromosomal anomalies (n = 64, 41.8%), complex malformation syndromes (n = 37, 24.1%), isolated malformations (n = 24, 15.7%), musculoskeletal disorders (n = 14, 9.2%) and prenatal non-anomalous fetuses (n = 14, 9.2%). Subgroups showed significant disparities in initial diagnosis of combination of both pathologies, Ratio AFI/ gestational weeks and Doppler ultrasound examinations. Overall mortality rate was 64.7%. Fetuses prenatally assigned to be non-anomalous, showed further complications in 42.9% (n = 6). Fetuses prenatally diagnosed with FGR combined with polyhydramnios are affected by a high morbidity and mortality. Five etiologic groups can be differentiated, showing significant disparities in prenatal and postnatal outcome. Even without recognizable patterns prenatally, long-term-follow up is necessary, as neurodevelopmental or growth delay may occur.

Prenatal detection of a giant isolated coronary fistula.

Prenatal detection of an isolated congenital coronary artery fistula (ICCAF) requires an examination of the affected fetal hemodynamic situation by the fistula. Early pediatric cardiological presentation is needed, since prenatal changes may have relevant postpartal consequences.

Early sonographic evaluation of the placenta in cases with IUGR: a pilot study.

PURPOSE: The objective of this study was to evaluate the feasibility and value of measuring early placental echogenicity to predict fetal intrauterine growth restriction (IUGR). METHODS: This is a single center, retrospective cohort study. Early ultrasound examination (6 + o to 8 + 6 weeks of gestation in singleton pregnancies) was used to measure placental dimensions and placental echogenicity. A ratio between placental echogenicity and myometrial echogenicity (PE/ME-ratio) was calculated for each patient. Study population was assigned to either the IUGR group or the control group based on clinical data. RESULTS: 184 eligible pregnancies were analysed. 49 patients were included in our study. Of those, 9 (18.37%) cases were affected by IUGR and 40 (81.63%) were controls. Measuring the placental echogenicity was feasible in all cases. IUGR neonates had a significant lower placental echogenicity (1.20 (± 0.24) vs. 1.64 (± 0.60), p = 0.033), but no significant differences in the other placental outcomes were observed. CONCLUSION: Our results showed that measuring placental echogenicity is feasible in the early first trimester and demonstrated a significantly lower placental echogenicity in fetuses with subsequent IUGR. Further prospective studies are needed to validate those results.

Outcome of monochorionic twins with prenatally diagnosed bipartite placenta.

PURPOSE: The objective of this study was to identify possible implications and risk factors in monochorionic (MC) twin pregnancies having a bipartite placenta. MATERIALS: Between 2014 and 2019 data on such pregnancies was prospectively collected and retrospectively analyzed. Monochorionicity was confirmed either by the presence of a T-sign, one chorion and two separate amnion cavities, or by histological examination postnatally. Bipartite placenta was diagnosed when two placenta lobes were identified with no placental connection between them. Risks of bipartite placenta in MCDA twins were evaluated by background data, prenatal and postnatal outcome. RESULTS: Five twin pregnancies were included in the study. 60 % (n = 3) were complicated by twin-twin-transfusion syndrome (TTTS), 20 % by selective intrauterine growth restriction (sIUGR) (n = 1) and 20 % (n = 1) by severe fetal malformations. In every case an intervention was indicated, but in only 60% (n = 3) possible, due to poor surgical conditions. Overall fetal survival rate at birth was 90 %. Neonatal survival rate was 66.63%. CONCLUSION: Bipartite placenta is a very rare phenomenon in MCDA twin pregnancies. It seems to be associated with a higher rate of complications, such as TTTS and sIUGR and might induce surgical difficulties in prenatal interventions.

Low BUB1 expression is an adverse prognostic marker in gastric adenocarcinoma.

Gastric adenocarcinomas are associated with a poor prognosis due to the fact that the tumor has often metastasized by the time of diagnosis and prognostic markers are urgently needed to tailor treatment. We examined the expression of the mitotic spindle checkpoint protein BUB1 (budding uninhibited by benzimidazoles 1) and Ki-67 protein expression by immunohistochemistry in 218 patients with primary gastric adenocarcinomas. Tumors with low frequency of BUB1 expression were associated with larger tumor size (pT) (p < 0.001), higher incidence of lymph node metastases (pN) (p = 0.027), distant metastases (pM) (p = 0.006) and higher UICC stage (p < 0.001). Furthermore, BUB1 expression was inversely correlated with residual tumor stage (p = 0.038). Abundant BUB1 protein expression correlated with frequent Ki-67 protein expression (p < 0.001) and low BUB1 expression was associated with shorter survival (p < 0.001). Univariate and multivariate analyses confirmed BUB1 to be an independent prognostic marker in gastric cancer (p = 0.021).