Prenatal diagnosis and outcome of fetal urinomas in relation to the underlying etiology.

OBJECTIVE: Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal urinoma in a single center over a 20-year period. METHODS: Retrospective study including all prenatally suspected or diagnosed fetal urinomas. Cases were analyzed by ultrasound findings during pregnancy, comparing urinomas caused by lower urinary tract obstruction (LUTO) and ureteropelvic or ureterovesical junction obstruction (UPJO/UVJO). Course of pregnancy and outcomes were compared according to the underlying etiology. RESULTS: 87 cases of fetal urinomas were identified between 2002 and 2022. The underlying etiology was LUTO in 56.3% and UPJO/UVJO in 43.7%. Complications mainly included oligo- or anhydramnios, thoracic hypoplasia as well as associated renal abnormalities. Postnatally, loss of function (LOF) in kidneys affected by urinomas was seen in 78.6% of children overall, but significantly more often in cases of UPJO/UVJO than in LUTO (86.2% vs. 70.2%, p < 0.05). CONCLUSION: Association of prenatal urinoma and postnatal LOF of the affected kidney is high, especially in cases caused by UPJO/UVJO. In survivors with urinoma caused by UPJO/UVJO, the general prognosis is excellent if the contralateral kidney was normal. In survivors with urinomas caused by LUTO, long-term prognosis depends on postnatal renal and pulmonary function.

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.

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

BACKGROUND: Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further define the set of genes involved. METHODS: We performed in-depth clinical characterisation and exome sequencing on a cohort of 23 FA index cases sharing arthrogryposis as a common feature. RESULTS: We identified likely pathogenic or pathogenic variants in 12 different established disease genes explaining the disease phenotype in 13 index cases and report 12 novel variants. In the unsolved families, a search for recessive-type variants affecting the same gene was performed; and in five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21A gene (KIF21A) was found. CONCLUSION: Our study underlines the broad locus heterogeneity of FA with well-established and atypical genotype-phenotype associations. We describe KIF21A as a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.

Psoas abscess in pregnancy: a review of the literature and suggestion of minimally invasive treatment options.

AIM: Less than a dozen cases of psoas abscesses in pregnancy have been described in the literature. We reviewed the literature when treating a patient with a psoas abscess after ipsilateral double J-ureteral stent placement (in the following: "double J-stent") due to infected hydronephrosis. METHODS: In January 2022, this review was searched using the Pubmed/MEDLINE database and the mesh terms "Psoas Abscess" AND "Pregnancy". Studies were included in any language and of all years, describing a psoas abscess during pregnancy. When patients did not have a psoas abscess, the abscess occurred after pregnancy, or when there was no full text available, the article was excluded. MAIN RESULTS: Ten case reports about patients with psoas abscesses during pregnancy were included. The classical symptomatic triad of psoas muscle abscess included lower back pain, limping and persistent fever with daily spikes. However, in most cases, not all three symptoms can be found. Especially, fever is absent in more than half of the patients. Psoas abscesses are described between 13 and 39 weeks of gestation. Primary psoas abscesses with haematogenous spread are more common during pregnancy than secondary with spread per continuitatem. In the literature, the main reasons for psoas abscess are spinal tuberculosis, drug abuse or underlying diseases such as Crohn's disease. It is not uncommon for the definite cause to be unclear. Regarding the patient's symptoms, pyelonephritis is often considered a possible aetiology. In general, the main treatment options include antibiotic treatment and abscess drainage. There is no higher caesarean section rate, and no negative outcome for the foetus has been described. CASE PRESENTATION: In our patient, a 38-year-old obese Caucasian woman, who had received a left double J-stent for infected hydronephrosis at 15 weeks of gestation, we successfully treated a psoas abscess of 20 × 10 cm with a sonographically assisted abscess drainage and antibiotics. The further course of pregnancy and the elective repeat caesarean section at 38 + 0 weeks of gestation were without any problems. Double J-stent placement and laser stone lithotripsy during puerperium were performed because of recurrent urolithiasis. CONCLUSIONS: Although rare, psoas abscesses can occur during pregnancy, and it has often been treated surgically in the past. A psoas abscess as a complication after infected hydronephrosis and intervention during pregnancy has never been reported in the literature. Even for obese patients, minimally invasive therapy may be a treatment option that has rarely been reported in the literature.

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.

Enhancing ultrasound education in obstetrics and gynecology in Germany: insights and innovations from postgraduate training.

BACKGROUND: Ultrasound (US) has become integral to obstetrics and gynecology (Ob/Gyn), necessitating proficient training during residency. Despite its clinical importance, there is a perceived gap in the quality and structure of postgraduate ultrasound education in Germany. METHODS: A cross-sectional survey was conducted among Ob/Gyn residents in Germany from October 2023 to March 2024, using the LimeSurvey platform. The survey, distributed via email, social media, and physical flyers, garnered 211 participants, with 115 completing all sections. The questionnaire covered demographic details, US training experiences, and the perceived importance of US in clinical practice. RESULTS: Although US was highly valued by respondents, with an average of 26.1% of their clinical activity devoted to it, there was significant dissatisfaction with the training quality. Key issues included inadequate supervision, the necessity of self-training, and low participation in certification courses. Despite 93.0% awareness of professional US organizations like the German Society for Ultrasound in Medicine (DEGUM), engagement with structured training programs was minimal. DISCUSSION: The study highlights a critical need for standardized US training protocols and curricular reform in Ob/Gyn residencies in Germany. The discrepancy between the recognized importance of US and the quality of training indicates a pressing need for improvements. Addressing these gaps through comprehensive, structured educational reforms could significantly enhance the proficiency and confidence of future Ob/Gyn specialists, ultimately improving patient care.

Development of a 3D-printed nuchal translucency model: a pilot study for prenatal ultrasound training.

BACKGROUND: We used two 3D ultrasound volumes of fetal heads at 13 weeks to create live-size 3D-printed phantoms with a view to training or assessment of diagnostic abilities for normal and abnormal nuchal translucency measurements. The phantoms are suitable for use in a water bath, imitating a real-life exam. They were then used to study measurement accuracy and reproducibility in examiners of different skill levels. METHODS: Ultrasound scans of a 13 + 0-week fetus were processed using 3D Slicer software, producing a stereolithography file for 3D printing. The model, crafted in Autodesk Fusion360™, adhered to FMF guidelines for NT dimensions (NT 2.3 mm). Additionally, a model with pathologic NT was designed (NT 4.2 mm). Printing was performed via Formlabs Form 3® printer using High Temp Resin V2. The externally identical looking 3D models were embedded in water-filled condoms for ultrasound examination. Eight specialists of varying expertise levels conducted five NT measurements for each model, classifying them in physiological and abnormal models. RESULTS: Classification of the models in physiological or abnormal NT resulted in a detection rate of 100%. Average measurements for the normal NT model and the increased NT model were 2.27 mm (SD ± 0.38) and 4.165 mm (SD ± 0.51), respectively. The interrater reliability was calculated via the intraclass correlation coefficient (ICC) which yielded a result of 0.883, indicating robust agreement between the raters. Cost-effectiveness analysis demonstrated the economical nature of the 3D printing process. DISCUSSION: This study underscores the potential of 3D printed fetal models for enhancing ultrasound training through high inter-rater reliability, consistency across different expert levels, and cost-effectiveness. Limitations, including population variability and direct translation to clinical outcomes, warrant further exploration. The study contributes to ongoing discussions on integrating innovative technologies into medical education, offering a practical and economical method to acquire, refine and revise diagnostic skills in prenatal ultrasound. Future research should explore broader applications and long-term economic implications, paving the way for transformative advancements in medical training and practice.

Fetal NT-proBNP levels and their course in severe anemia during intrauterine treatment.

PURPOSE: In adults and fetuses, N-terminal pro-B-type natriuretic peptide (NT-proBNP) is a marker of cardiac failure and myocardial remodelling. We examined the effect of anemia and intrauterine transfusion (IUT) on NT-proBNP concentrations in fetuses with anemia and established gestational age-dependent reference values of a control group. METHODS: We analyzed NT-proBNP levels in anemic fetuses that underwent serial intrauterine transfusions (IUT), focusing on different causes and severity of anemia and comparing the results to a non-anemic control group. RESULTS: In the control group, the average NT-proBNP concentration was 1339 ± 639 pg/ml, decreasing significantly with increasing gestational age (R = - 74.04, T = - 3.65, p = 0.001). Subjects had significantly higher NT-proBNP concentrations before initiation of IUT therapy (p < 0.001), showing fetuses with parvovirus B19 (PVB19) infection having the highest concentrations. Hydropic fetuses also showed an increased NT-proBNP concentration compared to non-hydropic fetuses (p < 0.001). During the course of therapy, NT-proBNP concentration before subsequent IUT decreased significantly from pathologically high levels, while MoM-Hb and MoM-MCA-PSV remained pathological. CONCLUSION: NT-pro BNP levels in non-anemic fetuses are higher than in postnatal life, decreasing with ongoing pregnancy. Anemia is a hyperdynamic state and its severity correlates with circulating NT-proBNP levels. Highest concentrations occur in fetuses with hydrops and with PVB19 infection, respectively. Treatment by IUT leads to a normalisation of NT-proBNP concentrations, so the measurement of its levels may be useful in therapy monitoring.

Two-dimensional speckle tracking echocardiography in fetuses with critical aortic stenosis before and after fetal aortic valvuloplasty.

BACKGROUND: Critical aortic stenosis (AS) in fetuses may progress to hypoplastic left heart syndrome (HLHS) with need for postnatal single ventricular (SV) palliation. Fetal aortic valvuloplasty (FAV) is performed to achieve postnatal biventricular (BV) circulation. However, the impact of FAV on fetal myocardial function is difficult to measure. Prediction of postnatal circulatory status and, therefore, counseling is challenging. METHODS: Retrospective study of fetuses with critical AS who underwent FAV. Global Longitudinal Peak Systolic Strain (GLPSS) of the left ventricle (LV) and right ventricle (RV) were retrospectively analyzed before and after intervention. Fisher's Exact Test and Mann-Whitney-U Test were used for univariant statistical analysis. RESULTS: 23 fetuses with critical AS were included. After intervention fetuses demonstrated more negative LV-GLPSS mean values post- vs. pre-intervention (- 5.36% vs. - 1.57%; p < 0.05). RV-GLPSS was decreased in all fetuses, there was no peri-interventional change. 20 fetuses were born alive. Postnatally, 10 had BV and 10 SV circulation. Improved post-interventional LV-GLPSS strain values correlated with BV outcome (p < 0.05). Pre-interventional continuous LV-GLPSS values correlated with postnatal SV vs. BV outcome (p < 0.05). CONCLUSION: In some fetuses, LV myocardial function assessed by speckle tracking echocardiography (STE) improves after FAV. Improved post-interventional LV-GLPSS correlates with biventricular postnatal outcome. Furthermore, pre-interventional LV- and RV-GLPSS correlate with postnatal outcome. Further studies are needed to asses, if pre-interventional STE parameters might predict which fetuses will benefit from FAV with postnatal BV circulation.

Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.

PURPOSE: Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm. METHODS: Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities. RESULTS: Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). CONCLUSION: Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.

Intrauterine transfusion in 103 fetuses with severe anemia caused by parvovirus infection. A multicenter retrospective study.

PURPOSE: Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20+0 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection. METHODS: A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results. RESULTS: A total of 186 IUTs were performed in 103 fetuses. The median GA at first IUT was 19+3 (13+0-31+4) weeks of gestation. IUFD occurred in 16/103 fetuses (15.5%). Overall survival was 84.5% (87/103). Hydrops (p = 0.001), lower mean hemoglobin at first IUT (p = 0.001) and low platelets (p = 0.002) were strongly associated with IUFD. There was no difference observed in fetuses transfused before or after 20+0 weeks of gestation. CONCLUSION: IUT is a successful treatment option in fetuses affected by severe anemia due to parvovirus B19 infection in specialized centers. In experienced hands, IUT before 20 weeks is not related to worse perinatal outcome.

Prenatal Diagnosis, Associated Findings, and Postnatal Outcome in Fetuses with Double Inlet Ventricle (DIV).

PURPOSE: To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV). METHODS: Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. RESULTS: 33 cases of DIV were correctly diagnosed prenatally. 24 fetuses (72.7%) had a double inlet ventricle with dominant left (DILV), 7 (21.2%) with dominant right ventricular morphology (DIRV), and 2 cases (6%) with indeterminate morphology (DIIV). 4 (16.6%) were Holmes hearts. 5 of the 7 fetuses (71.4%) with DIRV had a double outlet right ventricle (DORV). Malposition of the great arteries was present in 84.8%. Chromosomal abnormalities were absent. Termination of pregnancy was performed in 8 cases (24.2%). 24 fetuses (72.7%) were live-born. 5 (20.8%) were female and 19 (79.2%) were male. The median gestational age at birth was 38+2.5 weeks. All but one child received univentricular palliation. The median follow-up time was 5.83 years with an adjusted survival rate of 91.6% (22 of 24 live-born children). There was one case of Fontan failure at 15.7 years. CONCLUSION: DIV remains a major cardiac malformation although both prenatal diagnostics and cardiac surgery have improved over the years. The course of pregnancy is commonly uneventful. All children need univentricular palliation. The children are slightly physically limited, develop a normal intellect, and attend school regularly.

Aorto-Left Ventricular Tunnel - Prenatal Diagnosis and Outcome.

PURPOSE: Aorto-left ventricular tunnel (ALVT) is an extremely rare, albeit prenatally detectable, extracardiac channel that connects the ascending aorta to the cavity of the left ventricle. MATERIALS AND METHODS: All ALVTs diagnosed prenatally (2006-2020) in five tertiary referral centers were retrospectively assessed for prenatal ultrasound findings, intrauterine course, postnatal outcome, and surgical treatment. We focused on the size of the tunnel and alterations of perfusion of the left ventricular outflow tract and aortic arch. RESULTS: 11 fetuses were diagnosed with ALVT at a mean gestational age of 24.8 weeks. All cases were associated with severe dilatation of the left ventricle and a to-and-fro flow in the left outflow tract. Signs of congestive heart failure were present in five fetuses, four of which were terminated and one of which died in the neonatal period. One fetus died in utero at 34 weeks without prior signs of cardiac failure. Of the five survivors, two underwent the Ross procedure. In both cases the prenatal left ventricular outflow was exclusively via a large tunnel. The remaining three neonates underwent patch closure of the tunnel. In these cases, the prenatal outflow of the left ventricle was via the aortic valve and simultaneously over the tunnel. CONCLUSION: Prenatal diagnosis of ALVT should be considered in the presence of left ventricular hypertrophy, dilatation of the aortic root, and to-and-fro flow in the aortic outflow tract. Signs of heart failure are associated with an unfavorable outcome. Large tunnels, particularly in combination with the absence of flow over the aortic valve, may be an unfavorable predictor of surgical repair.

Fetal Echocardiography in Predicting Postnatal Outcome in Borderline Left Ventricle.

OBJECTIVES: Prenatal prediction of postnatal univentricular versus biventricular circulation in patients with borderline left ventricle (bLV) remains challenging. This study investigated prenatal fetal echocardiographic parameters and postnatal outcome of patients with a prenatally diagnosed bLV. METHODS: We report a retrospective study of bLV patients at four prenatal centers with a follow-up of one year. BLV was defined as z-scores of the left ventricle (LV) between -2 and -4. Single-ventricle palliation (SVP), biventricular repair (BVR), and no surgical or catheter-based intervention served as the dependent outcome. Prenatal ultrasound parameters were used as independent variables. Cut-off values from receiver operating characteristic curves (ROC) were determined for significant discrimination between outcomes. RESULTS: A total of 54 patients were diagnosed with bLV from 2010 to 2018. All were live births. Out of the entire cohort, 8 (15 %) received SVP, 34 (63 %) BVR, and 12 (22 %) no intervention. There was no significant difference with regard to genetic or extracardiac anomalies. There were significantly more patients with endocardial fibroelastosis (EFE) in the SVP group compared to the BVR group (80 % vs. 10 %), (p < 0.001). Apex-forming LV (100 % vs. 70 %) and lack of retrograde arch flow (20 % vs. 80 %) were associated with no intervention (p < 0.001). With respect to BVR vs. SVP, the LV sphericity index provided the highest specificity (91.7 %) using a cutoff value of ≤ 0.5. CONCLUSION: The majority of bLV patients maintained biventricular circulation. EFE, retrograde arch flow, and LV sphericity can be helpful parameters for counseling parents and further prospective studies can be developed.

Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.

Aymé-Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the MAF gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a characteristic facial appearance. In a proportion of individuals, pericardial effusion or pericarditis has been reported as part of the phenotypic spectrum. In the present case, a large persistent cytokine-enriched pericardial effusion was the main pre- and postnatal symptom that led to the clinical and later molecular diagnosis of Aymé-Gripp syndrome. In the postnatal course, the typical Aymé-Gripp syndrome-associated features bilateral cataracts and hearing loss were diagnosed. We propose that activating dominant variants in the cytokine-modulating transcription factor c-MAF causes cytokine-enriched pericardial effusions possibly representing a key feature of Aymé-Gripp syndrome.

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome.

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings. Objective of this study was to examine the prenatal ultrasound findings in fetuses with Wolf-Hirschhorn syndrome (WHS). METHODS: Retrospective assessment of 18 pregnancies that were seen at three tertiary referral centers (Universities of Bonn, Tuebingen and Nuernberg / Germany). Findings of prenatal ultrasound examinations, genetic results and outcome were compared. Additionally, findings of our study were compared to previous small case series from the literature and then compared to data on postnatal frequencies and abnormalities in affected patients. RESULTS: Median gestational age at the time of examination was 23 + 1 weeks' (range: 13 + 4 to 29 + 1 weeks') with female-to-male ratio of > 2.5:1. Most frequent ultrasound findings were facial abnormalities, symmetric IUGR and microcephaly that presented in 94.4, 83.3 and 72.2% of cases, respectively. The combination of microcephaly and hypoplastic nasal bone was a particularly characteristic finding. Growth retardation presented in all fetuses > 20 weeks, but not below. Other frequent abnormalities included cardiac anomalies in 50 and single umbilical artery (SUA) in 44.4% of fetuses. CONCLUSION: WHS should be considered in the presence of symmetric IUGR together with microcephaly, hypoplastic nasal bone and facial abnormalities on prenatal ultrasound. Genetic testing by chromosomal microarray analysis (CMA) is strongly recommended in this context.

Percent error of ultrasound examination to estimate fetal weight at term in different categories of birth weight with focus on maternal diabetes and obesity.

BACKGROUND: Sonography based estimate of fetal weight is a considerable issue for delivery planning. The study evaluated the influence of diabetes, obesity, excess weight gain, fetal and neonatal anthropometrics on accuracy of estimated fetal weight with respect to the extent of the percent error of estimated fetal weight to birth weight for different categories. METHODS: Multicenter retrospective analysis from 11,049 term deliveries and fetal ultrasound biometry performed within 14 days to delivery. Estimated fetal weight was calculated by Hadlock IV. Percent error from birth weight was determined for categories in 250 g increments between 2500 g and 4500 g. Estimated fetal weight accuracy was categorized as accurate ≤ 10% of birth weight, under- and overestimated by > ± 10% - ± 20% and > 20%. RESULTS: Diabetes was diagnosed in 12.5%, obesity in 12.6% and weight gain exceeding IOM recommendation in 49.1% of the women. The percentage of accurate estimated fetal weight was not significantly different in the presence of maternal diabetes (70.0% vs. 71.8%, p = 0.17), obesity (69.6% vs. 71.9%, p = 0.08) or excess weight gain (71.2% vs. 72%, p = 0.352) but of preexisting diabetes (61.1% vs. 71.7%; p = 0.007) that was associated with the highest macrosomia rate (26.9%). Mean percent error of estimated fetal weight from birth weight was 2.39% ± 9.13%. The extent of percent error varied with birth weight with the lowest numbers for 3000 g-3249 g and increasing with the extent of birth weight variation: 5% ± 11% overestimation in the lowest and 12% ± 8% underestimation in the highest ranges. CONCLUSION: Diabetes, obesity and excess weight gain are not necessarily confounders of estimated fetal weight accuracy. Percent error of estimated fetal weight is closely related to birth weight with clinically relevant over- and underestimation at both extremes. This work provides detailed data regarding the extent of percent error for different birth weight categories and may therefore improve delivery planning.

Why are women deciding against birth in alongside midwifery units? A prospective single-center study from Germany.

OBJECTIVES: For healthy women entering labor after an uneventful pregnancy, advantages of birth in midwife-led models of care have been demonstrated. We aimed to study the level of awareness regarding care in alongside midwifery units (AMU), factors involved in the decision for birth in obstetrician-led units (OLU), and wishes for care and concerns about birth in women registering for birth in OLU who would have been eligible for care in AMU. METHODS: Healthy women with a term singleton cephalic fetus after an uneventful pregnancy course booking for birth in OLU were prospectively recruited. Data were collected by questionnaire. RESULTS: In total, 324 questionnaires were analyzed. One quarter (23.1%) of participants never had heard of care in AMU. Two thirds (64.2%) of women had made their choice regarding model of care before entering late pregnancy; only 16.4% indicated that health professionals had the biggest impact on their decision. One-to-one care and the availability of a pediatrician were most commonly quoted wishes (30.8 and 34.0%, respectively), and the occurrence of an adverse maternal or perinatal event the greatest concern (69.5%). CONCLUSIONS: Although the majority of respondents had some knowledge about care in AMU, expressed wishes for birth matching core features of AMU and concerns matching those of OLU, a decision for birth in OLU was taken. This finding may be a result of lack of knowledge about details of care in AMU; additionally, wishes and concerns may be put aside in favor of other criteria.

Clinical spectrum of female genital malformations in prenatal diagnosis.

INTRODUCTION: Fetal genital malformations represent a rare and heterogeneous group of congenital malformations of the disorders of sexual development (DSD) spectrum. METHODS: A thorough literature review on the main topics in the prenatal approach towards DSD was conducted. RESULTS: First, a thorough overview on prenatal characteristics of the most common fetal genital malformations of ovaries, uterus and external genitalia, and second, a standardized approach for differential diagnosis in the presence of direct and indirect prenatal signs of DSDs. CONCLUSIONS: This review is mainly directed towards the aspects of female genital malformations with  aspects of male DSD explained as well to aid in the prenatal differential diagnosis.

Development and implementation of a comprehensive postgraduate ultrasound curriculum for residents in obstetrics and gynecology: a feasibility study.

BACKGROUND: In obstetric and gynecological practice, ultrasound is the essential diagnostic tool. Nevertheless, few clinics have standardized and structured training curricula for young obstetricians in the field of obstetric and gynecological ultrasound. Since ultrasound is best learned hands-on in small supervised groups, we developed and implemented a comprehensive ultrasound curriculum for all postgraduate residents of our department using a peer-teaching concept. METHODS: We used Kern's six-step model of curricular development 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. RESULTS: Assistant physicians in the 1st and 2nd year of training received a theoretical and practical ultrasound basic course (six modules) in addition to their obligatory clinic rotations. The six main topics were prioritized according to service relevance and included the main features according to DEGUM, EBCOG and ISUOG. The units focused on a three-level training based on the AMEE levels: theoretical knowledge, well-founded theoretical knowledge and basic practical skills under guidance and self-employment of practical skills. CONCLUSION: Structured and standardized sonographic training allows young gynecology and obstetrics residents to conceptually grasp and practically implement topic-related themes. Furthermore, the course concept demonstrates the high inter-rater agreement among DEGUM-certified examiners. More research is needed to analyze the learning outcomes for residents and the improvement of the patient's outcome by establishing such an ultrasound curriculum.