The use of artificial intelligence in healthcare in general and in obstetrics and gynecology in particular has great potential. Specifically, machine learning methods could help improve the health and well-being of pregnant women, closely monitoring their health parameters during pregnancy, or reducing maternal and perinatal morbidity and mortality with early detection of pathologies. In this work, we propose a machine learning model to predict risk events in pregnancy, in particular the prediction of pre-eclampsia and intrauterine growth restriction, using Doppler measures of the uterine artery, sFlt-1, and PlGF values. For this purpose, we used a public dataset from a study carried out by the University Medical Center of Ljubljana, in which data were collected from 95 pregnant women with pre-eclampsia and intrauterine growth restriction. We adopted a multi-label approach to accomplish the prediction task. Different classifiers were evaluated and compared. The performance of each model was tested in terms of accuracy, precision, recall, F1 score, Hamming loss, and AUC-ROC. On the basis of these parameters, a variation of the decision tree classifier was found to be the best performing model. Our model had a robust recall metric (0.89) and an AUC ROC metric (0.87), taking into account the size of the data and the unbalance of the class.

Inherited Retinal Dystrophies are clinically and genetically heterogeneous disorders affecting the photoreceptors. Although NGS has shown to be helpful for the molecular diagnosis of these conditions, some cases remain unsolved. Among these, several individuals harboured monoallelic variants in a recessive gene, suggesting that a comprehensive screening could improve the overall diagnosis. In order to assess the contribution of non-coding variations in a cohort of 29 patients, 25 of them with monoallelic mutations, we performed targeted NGS. The design comprised the entire genomic sequence of three genes (USH2A, ABCA4 and CEP290), the coding exons of 76 genes and two disease-associated intronic regions in OFD1 and PRPF31. As a result, likely causative mutations (8 novel) were identified in 17 probands (diagnostic rate: 58.62%), including two copy-number variations in USH2A (one deletion of exons 22–55 and one duplication of exons 46–47). Possibly damaging deep-intronic mutations were identified in one family, and another with a monoallelic variant harboured causal mutations in a different locus. In conclusion, due to the high prevalence of carriers of IRD mutations and the results obtained here, sequencing entire genes do not seem to be the approach of choice for detecting the second hit in IRD patients with monoallelic variants.

Mirror syndrome (MS) is a rare obstetric condition usually defined as the development of maternal edema in association with fetal hydrops. The pathogenesis of MS remains unclear and may be misdiagnosed as pre-eclampsia. We report a case series of MS in which fetal therapy (intrauterine blood transfusion and pleuroamniotic shunt) resulted in fetal as well as maternal favourable course with complete resolution of the condition in both mother and fetus. Our case series add new evidence to support that early diagnosis of MS followed by fetal therapy and clinical maternal support are critical for a good outcome.

Background: The Ex-utero Intrapartum Treatment (EXIT) is a procedure developed to manage a range of fetal conditions, aiming to ensure the maintenance of neonatal airway and preserving the feto-placental circulation. Its goal is to enhance the neonatal ability to successfully transition and adapt to postnatal life, thereby reducing perinatal morbidity and mortality. However, EXIT has been associated with a high risk of maternal complications. This paper provides an overview of the indications and characteristics of the EXIT procedure, as well as the obstetric outcomes and maternal complications. Methods: A retrospective analysis was conducted on a cohort of patients undergoing EXIT at our center between January 2007 and December 2022. Maternal outcomes, including demographic information, data related to the surgical procedure, surgical complications, and postoperative complications were analyzed. To assess the severity of the surgical complications, a modified Clavien-Dindo classification was used. Comparative analysis was performed by randomly selecting a sample from elective cesarean deliveries performed at our center. Results: A total of 34 EXIT procedures were performed. According to the modified Clavien-Dindo classification, we observed no major complications, while minor maternal complications were present in 2.94% of cases. Compared to elective cesarean deliveries (n = 350), there were no significant differences in terms of maternal complications, highlighting the similarity observed in the mean decrease in postoperative hemoglobin (1.15 g/dL in EXIT vs. 1.2 g/dL in elective cesarean deliveries, p = 0.94). In EXIT group, there was a higher rate of polyhydramnios (26.47% vs 6.59%, p < 0.001), as well as the need for amnioreduction (14.71% vs 0%, p = 0.001) and preterm delivery (32.35% vs 6.02%, p = 0.001). There were no cases of endometritis, post-procedural fever, or abruptio placentae following EXIT. Conclusions: EXIT can be considered a safe procedure when performed under adequate conditions, including appropriate uterine access and proper anesthetic management. In our series, EXIT procedure was not associated with a higher incidence of maternal complications when compared to elective cesarean delivery. Trial registration: Retrospectively registered.

Background: There is no agreement on the effect of planned mode of delivery in the perinatal morbidity and neurodevelopment in uncomplicated monochorionic diamniotic as well as regarding the safest mode of delivery. In this paper we have aimed to analyze the impact of the mode of delivery in uncomplicated monochorionic diamniotic twins ≥ 32 weeks of gestation. Material and methods: This study included 72 women, followed and attended at our department, with uncomplicated monochorionic diamniotic pregnancies who had a birth between 32.0 and 37.6 weeks of gestation from January 2012 to December 2018. Outcomes were recorded in women who underwent planned vaginal delivery (induced or spontaneous onset of labor), and women who underwent a planned cesarean section for any reason that excluded vaginal delivery. Primary outcomes included: (1) A composite of any of the following: neonatal death, 5-min Apgar score < 4, respiratory distress syndrome, bronchopulmonary dysplasia, sepsis, periventricular leukomalacia, intraventricular hemorrhage, and necrotizing enterocolitis. (2) Neurodevelopmental status at 2 years of corrected age. Results: In this period, 42 women (58.3%) had a planned vaginal delivery, and 30 women (41.7%) had a planned cesarean section. In the first group, 64.3% had a vaginal delivery. The rate of successful vaginal delivery was similar regardless the onset of labor. We did not find a higher composite perinatal morbidity in the planned vaginal delivery group (planned vaginal delivery: 3.6% vs. planned cesarean section: 8.3%, aOR 1.36, 95% CI 0.24–7.81). Considering the onset of labor, it was more frequent in the spontaneous subgroup (8.3% vs. 0%). The rate of neurodevelopmental impairment was higher in the planned cesarean section group, without reaching statistical significance [10.2% vs. 4.9%, aOR 1.53 (95% CI 0.37–6.29)]. Conclusions: In uncomplicated monochorionic diamniotic twins at ≥ 32 weeks of gestation, when the first twin is in vertex presentation, our results suggest that planned vaginal delivery is safe, with a successful outcome as well as high vaginal delivery rate.