This case report describes the prenatal diagnosis of the extremely rare Blepharo-Cheilo-Dontic syndrome. After sonographic diagnosis of the bilateral cleft lip and palate and the persistent open eyelids, amniocentesis with subsequent molecular genetics confirmed the sonographically presumed de-novo mutation of the CDH1 gene and the Blepharo-Cheilo-Dontic Syndrome. After multidisciplinary counseling the patients termined the pregnancy.
Growing evidence suggests that women with endometriosis may be particularly vulnerable to disordered eating behaviors (DEBs) and clinically defined eating disorders (EDs). This narrative review aims at integrating and critically analyzing the current evidence regarding the relationship between endometriosis and EDs, as well as highlighting the psychosocial and neurobiological vulnerabilities of women with endometriosis to DEBs. A large-scale genetic study showed a nearly threefold increase in the odds of EDs in women with endometriosis, and a significant genetic correlation. Although the prevalence of formal ED diagnoses appears low in small clinical samples, DEBs such as emotional eating, binge tendencies, and maladaptive dietary restriction, are common and strongly associated with pain intensity, and borderline BMI. Psychological factors, including body image disturbance, heightened self-criticism, emotional dysregulation, and the need for control further contribute to the vulnerability to EDs. At the biological level, the dysregulation of leptin, endocannabinoids, dopamine, brain-derived neurotrophic factor, and inflammatory cytokines, molecules involved in both appetite regulation and some aspects of the pathophysiology of endometriosis, suggests overlapping neuroimmune pathways that may link endometriosis to DEBs and EDs. Clinical management must, therefore, integrate screening for DEBs, supervised and personalized dietary counseling, balanced exercise prescription, and psychological interventions targeting pain coping, emotion regulation, and body image. A multidimensional, biopsychosocial framework is essential to prevent the onset or exacerbation of EDs in women with endometriosis.
We aimed to develop a machine learning model for first-trimester prediction of gestational diabetes mellitus (GDM) in twin pregnancies using a prospective international, multi-center cohort and identify useful predictive markers.
Pregnant women with two live fetuses were enrolled at 11 + 0 to 13 + 6 weeks’ gestation and followed until delivery. GDM was diagnosed at 24–28 weeks’ gestation using the two-stage GCT and OGTT tests. Biochemical, biophysical, and blood assessments were conducted at three periods during pregnancy. Multiple machine learning models evaluated demographic, clinical, and laboratory parameters, including maternal factors (BMI, age, medical history), sonographic markers (crown rump length, estimated fetal weight, uterine artery pulsatility index), and blood and biochemical markers (placental growth factors, blood glucose, cell counts). LightGBM, XGBoost, and logistic regression models were compared using area under the curve (AUC) analysis.
Among 596 women, 99 (16.6%) developed GDM. LightGBM demonstrated superior performance (AUC = 0.72, 95% CI 0.69–0.75). First-trimester high BMI was the strongest predictor, followed by elevated white blood cell counts and platelet levels. Detection rates (DR) were 28% and 42% at 10% and 20% false positive rates (FPR), respectively. Previous GDM was associated with an increased risk for GDM.
GDM in twins is associated with certain characteristics of the first-trimester. Information from later trimesters has a limited impact. The GDM probability risk score increased with the severity of the treatment. An app to predict this score is available at: twin-pe.math.biu.ac.il.
The objective of this study was to explore whether a history of termination of pregnancy (TOP) in births after 2015 in a high income setting is still linked to preterm birth (PTB) and peripartal complications.
35,897 singleton births from a perinatal center with approximately 5000 births per year between 2015 and 2022 were analyzed. Patients with a history of first trimester TOP (TOP < 15 weeks) were compared to those who had never had a TOP. A two-step statistical approach using Chi-squared analysis and forward-step multiple logistic regression was used to explore the relationship.
4132 individuals (11.51%) had a history of first trimester TOP. Our findings suggest an association between past TOP and a higher risk for PTB (OR = 1.44, 95% CI [1.25–1.67], p < 0.001). This increases with the number of TOP, six or more TOP were associated with the highest odds ratio for spontaneous PTB (OR = 5.21, 95% CI [1.88–14.46], p = 0.002). The risk for PTB did not differ between methods. Furthermore, our data suggest an association between past TOP and placental retention (OR = 1.25, 95% CI [1.03–1.52],p = 0.022).
These findings underscore the importance of still recognizing prior TOP as a risk factor in obstetric care. The results may inform targeted counseling and the development of preventative strategies to mitigate maternal and fetal morbidity.
Thoracoamniotic shunting (TAS) in fetuses with macrocystic congenital pulmonary airway malformation (CPAM) is mostly performed with pigtail shunts like the rocket shunt or the Harrison fetal bladder stent. The aim of this study was to assess the prenatal course, perinatal outcome and complications of TAS for severe macrocystic CPAM using the Somatex® intrauterine shunt.
This was a two center (Cologne/Bonn) observational retrospective study of fetuses that underwent TAS using the Somatex® intrauterine shunt for severe macrocystic CPAM with and without hydrops between 2016–2024. Outcome parameters were perinatal survival, complications, gestational age at delivery and visibility of the shunt outside the skin after birth.
During the study period, 25 fetuses were treated with the Somatex® shunt (13 = Cologne, 12 = Bonn), including 24 singletons and one fetus of a monochorionic-diamniotic twin pregnancy Mean gestational age at intervention was 24.7 weeks (range 19–30). The mean diameter of the dominant cyst within the lesion was 34 mm (range 18–55). Fetal hydrops prior to TAS (ascites and fetal scalp oedema) was present in 36% (9/25). Dislocation in the further course of pregnancy occurred in 8% (2/25) with the need for reintervention in two cases. Resolution of hydrops and regression of the lesion occurred in 96% (24/25). Mean gestational age at delivery was 38.3 weeks (range 26–41), the preterm birth rate < 37 weeks was 20% (5/25), 12% (3/25) were due to PPROM. Live birth rate was 100% and 92% (23/25) of neonates survived the neonatal period. Of the 12 liveborns delivered at the two study centers, in one case the shunt (8.3%) was dislocated in the amniotic cavity, 5 (41.7%) had a visible shunt outside the skin, whereas in the other 6 (50.0%) cases the shunt was covered with skin at birth.
TAS in macrocystic CPAM with the Somatex® shunt has a high technical success rate leading to high neonatal survival rates even in cases associated with hydrops. The intrauterine course and neonatal outcome are comparable to TAS for fetal macrocystic CPAM using other types of shunts. Therefore, the choice of the shunt in macrocystic CPAM can be made freely at the discretion of the physician in charge, the availability of devices and economic factors. Due to the short length of 25 mm and its straight design, the outer end of the Somatex® shunt is covered by skin at birth in up to 50% of cases, which may complicate its removal.
Maternity care is a central component of any healthcare system and is largely provided by midwives. Considering increasing cost pressures and growing demand for efficiency within the German healthcare system, the development of efficient, digitally supported care models are both encouraged and actively promoted, especially in pregnancy. However, to date, no such model has been sustainably established in the field of maternity care. In particular, the perspectives of midwives have largely been neglected.
As part of an initial needs assessment for the Participatory Design of a digitally supported maternity care model, this study uses a cross-sectional web-based questionnaire to explore midwives’ perceptions of their current work situation, use of digital tools and digital pregnancy care.
92.2% of participants (n = 129) perceive increasing strain on maternity care in Germany (5-point Likert; M = 4.49, SD = ± 0.69). 87.6% use a variety of digital tools in their professional environment, yet unvalidated and unauthorized solutions. Self-perceived digital competence is high (10-point NRS; 7.09 ± 1.48). The intention to use the technology decreases in parallel with the level of awareness, being highest for the electronic patient record (5-point Likert; 72.1%; 3.84 ± 0.97) and lowest for artificial intelligence (38.8%; 3.17 ± 1.05).
The study highlights midwives’ openness to digital solutions, their active, though informal, use of such tools, and emphasizes the need to integrate their perspectives into the development of certified, sustainable digital care models in maternity care within an increasingly strained healthcare system.
In Germany, first-trimester abortions are legally restricted but allowed under certain conditions, including mandatory counseling and a reflection period. Accessibility concerns persist. To address gaps in medical training, we developed an interdisciplinary learning module on first-trimester abortion care.
We piloted the module in two sessions giving access to all medical students as an extracurricular learning opportunity. We conducted non-paired surveys across the medical school prior to the module and with our participants after the module to identify changes in attitudes as well as in intentions to treat.
We received a total of 297 responses. Most of the students (94%) were in favor of legalizing abortion laws. However, only 30% self-assessed their knowledge as sufficient, 40% of the students showed the willingness to perform abortions within the consultation clause and 43% of the students agreed to consult patients on abortion provision but not perform them themselves. The right for practitioners to object the performance of abortions was highly agreed upon (78%). After our pilot sessions, we received 53 evaluation surveys from 118 participants. Students reported a significant increase in knowledge. We observed a significant increase in general support and intention to treat after our module.
Teaching about abortion is essential for our future healthcare providers. Overall, we see a great response to our new learning module and can hope for practice-changing effects on the provision of abortion care in the future. We integrated the module into our regular teaching catalogue.
This investigation aimed to assess the applicability of fertility-sparing surgery (FSS) for early-stage ovarian clear cell carcinoma (OCCC) while examining the clinical requirements for lymph node dissection and adjuvant chemotherapy.
A total of 849 stage I patients were identified from the Surveillance, Epidemiology, and End Results (SEER) database. Survival outcomes were evaluated through Kaplan–Meier methodology for both overall survival (OS) and disease-specific survival (DSS). Prognostic determinants were examined using multivariate regression modeling.
Among the 849 patients, 84.3% (716 cases) underwent hysterectomy, and 15.7% (133 cases) received FSS. No significant difference was found in OS (90.6% vs. 87.2%, P = 0.257) or DSS (91.6% vs. 87.7%, P = 0.302) between FSS and hysterectomy cohort. Tumor diameter > 10 cm, stage IC and lymphadenectomy were independent prognostic factors for patients with stage I OCCC. Among patients with a tumor diameter ≤ 10 cm, those who underwent FSS had better OS (97.9% vs. 88.3%, P = 0.034) and DSS (97.9% vs. 88.3%, P = 0.044) than those who received hysterectomy. In stage IA patients, there were no significant differences in prognosis between the two operations. Neither lymphadenectomy nor chemotherapy did not demonstrate superior prognosis in the FSS cohort, whereas chemotherapy was associated with inferior OS (93.5% vs. 84.9%, P = 0.007) and DSS (93.5% vs. 85.5%, P = 0.007) in the hysterectomy cohort.
For patients with stage IC OCCC and a tumor diameter > 10 cm, the selection of FSS should be approached with caution. Given the limitations of the SEER database, larger-scale prospective cohort studies are required to validate the influence of lymphadenectomy and postoperative adjuvant chemotherapy on the prognosis of patients undergoing FSS.
While in singleton pregnancies the maternal serum biomarkers used in the first-trimester screening for aneuploidies, particularly PAPP-A, may be, also, used as predictors of adverse perinatal outcomes, there is a scarcity of data regarding the association of first-trimester biomarkers with unfavorable pregnancy outcomes in twin pregnancies. The main purpose of our study was to evaluate the association of low PAPP-A levels in twin pregnancies with the subsequent development of perinatal complications.
454 twin pregnancies were recruited over a period of 11 years, and their data were analyzed retrospectively. First trimester assessment at 11 + 0–13 + 6 weeks included examination of fetal anatomy and markers of aneuploidy and measurement of the maternal serum concentration of PAPP-A and free b-hCG. The outcomes under investigation were preterm rupture of the membranes, preterm delivery earlier than 32, 34, and 36 weeks, gestational diabetes, hypertensive disease of the pregnancy (including pregnancy induced hypertension and pre-eclampsia), intrauterine demise, birth weight difference of more than 25% among the fetuses and composite adverse pregnancy outcome (which included preterm rupture of the membranes, preterm delivery earlier than < 36 weeks, hypertensive disease of the pregnancy, and gestational diabetes).
Low first-trimester PAPP-A levels were related with preterm birth, whereas high levels were associated with hypertensive disorders of pregnancy. When using specific cut-off points such as low PAPP-A MoM < 5th and < 10th centile or high PAPP-A MoM > 90th and 95th centile, these associations were not significant.
Low first-trimester PAPP-A levels were related with preterm birth, whereas high levels were associated with hypertensive disorders of pregnancy. When specific cut-off points were investigated, these associations were not statistically significant.
Although international recommendations strongly support regular physical activity during pregnancy due to the improved maternal and fetal outcomes, adherence to physical activity remains low, particularly in early gestation. Understanding activity patterns during the first trimester is crucial, as behaviors established in this phase often persist throughout pregnancy.
To describe physical activity levels and adherence to international recommendations among low-risk pregnant women in the first trimester, using the Italian version of the Pregnancy Physical Activity Questionnaire (PPAQ).
This cross-sectional observational study includes 498 low-risk singleton pregnant women between 11+3 and 13+6 weeks’ gestation, recruited at the University Hospital of Naples Federico II, Italy, between January 2022 and December 2023. Participants completed the Italian version of the PPAQ. Total energy expenditure was expressed in MET-h/week, and women were classified as exercisers (≥ 150 mines/week of moderate-intensity activity) or non-exercisers.
Participants reported a median of 11.5 (IQR 8.2–15.0) h/week of total activity, corresponding to 155.7 (102.6–241.7) METs-h/week. While 51% met the threshold of ≥ 150 min/week of moderate-intensity activity when considering all activity domains, only 7.8% reached this target through sport or structured exercise alone. Walking represented the most common exercise (64.1% slow, 46.2% brisk, 25.6% uphill). Employment status was significantly associated with higher adherence to recommendations, whereas other sociodemographic factors showed no significant differences.
Structured exercise should be improved in the daily routine to optimize maternal and fetal health, although activity levels may appear adequate. Adherence to physical activity recommendations could be promoted by integrating validated tools such as the PPAQ into routine prenatal care and targeted interventions.
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