[Prenatal diagnosis of trisomy 21: Influence of pediatric counseling of pregnant women and contact with families who have an affected child]
The widespread use of non-invasive prenatal testing (NIPT) has turned prenatal diagnostics for chromosomal abnormalities from the exception to the rule. A common finding is the suspicion of trisomy 21 in the fetus, which should result in the offer of multidisciplinary counseling. The significance of this for decision-making by the pregnant woman has not yet been investigated.Fully anonymized data on pediatric counseling for 251 pregnant women with unclear NIPT findings, suspected or confirmed fetal trisomy 21 were evaluated retrospectively. All consultations on the subject of trisomy 21 in this cohort were conducted by the same experienced pediatrician, who only ended the consultation when the women seeking advice had no more questions and always offered to put them in direct contact with families that include a child affected by trisomy 21. Contact with such families and the outcome of the pregnancy were recorded in each case. Data were analyzed using methods of descriptive statistics and appropriate statistical tests. In particular, the timing of the pediatric consultation, its duration, and contact with families who have an affected child appeared to be relevant to the pregnant women's decision to continue or terminate the pregnancy.If fetal trisomy 21 is suspected, prompt and detailed pediatric counseling and contact with affected individuals are crucial.
Whole-exome sequencing identifies novel mutation in intrahepatic cholestasis of pregnancy: A case report and literature review
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disease characterized by pruritus and elevated total bile acid (TBA) levels. The most serious impact of ICP is sudden unexplained intrauterine fetal death, especially when an associated TBA ≥ 100 µmol/L is confirmed.We report a case of a 27-year-old female patient with early-onset severe refractory ICP. Whole-exome sequencing and mutation analyses were performed to obtain genetic data on the patient and her mother. Sanger sequencing was performed to screen the mutation site. Computer-based algorithms were applied to predict the pathogenesis of the identified mutation. Subsequently, we conducted a literature review to characterize the pathological features and perinatal management of severe refractory ICP, especially ICP with genetic susceptibility.A heterozygous mutation in the gene: c.130C > T/p.Pro44Ser was detected in this patient. Through the analysis of pathogenicity prediction software, the mutations were disease-causing. This is the first report to identify the novel p.Pro44Ser mutations of gene in ICP patients.Our report provides new insights into the genetic architecture of ICP involving variants. Early-onset severe refractory ICP is rare and mutations in bile acid metabolism genes might accentuate the phenotype. Emphasized perinatal management and screening for potential pathogenicity sites of variants that drive specific recognition of ICP is necessary.
[Taboo subject of miscarriage? - Anchoring through mechanisms at the medical, social, and organisational level "It broke my heart and that's just the way it is ..."]
Miscarriage is the most common complication of pregnancy. In this work, the experiences associated with miscarriage and their relevance for the women are analysed on different levels.
["Who cares about us?" Results of a cross-sectional study on the psychosocial health of obstetricians and midwives after traumatic birth experiences]
Traumatic births not only cause emotional stress for expectant parents but can also affect the psychosocial health of midwives and obstetricians due to their professional demands.
Forensic Obstetrics and Clinical Risk Factors
Forensic obstetrics attracts much attention from forensic experts and the public owing to the professional, legal, public health, and not inconsiderable social-emotional aspects and directly correlates with maternal, fetoneonatal, and iatrogenic risk factors. Modern obstetrics and fetomaternal medicine must not be quantified and qualified based only on perinatal disease but also according to current obstetric problems that burden forensic obstetrics. Therefore, high-risk obstetrics as a significant medico-legal problem should be viewed from the point of view of the entire perinatal period with possible long-term consequences, hence the monitoring of complete perinatal and infant morbidity is of immediate importance for quality control and risk control in the profession. The task of forensic obstetrics is to assess the impact of risk factors on the occurrence of an adverse event and to assess whether it is an obstetric complication or obstetric malpractice. Acknowledging the mentioned facts is the only way we will develop high obstetric awareness, and we and pregnant women, birth attendants, midwives and patients, fetuses, and newborns will have professional safety with imminent but controlled obstetric risk and controlled expected complications. On the other hand, the fact that the statistics of perinatal (obstetrical) malpractice globally is not abating requires a change in obstetrical philosophy, especially the unreasonable epidemic increase of cesarean sections with a significant percentage of cesarean sections without medical indication and complications. It is necessary to introduce and maintain solid professionalism and bioethical norms in obstetrics with constant training of skills, which is emphasized by numerous authors and with which we fully agree. Forensic obstetrics is based on the principles of good clinical practice, professional guidelines of modern obstetrics, and ethical and deontological principles. It clearly shows the perfection and imperfection of biological systems that we can and cannot influence. However, we must act according to the rules of the clinical profession, deontological rules, and health laws to reduce clinical risk to the smallest possible extent. Attention should certainly be focused on reducing the disproportion between iatrogenic and maternal-fetoneonatal risk factors, which is the most common reason for litigation today.
Successful Treatment of Aortic Coarctation in an Extremely Low Birth Weight Infant with Balloon Angioplasty
In our case report, we present a case of successful antegrade balloon angioplasty performed via the femoral vein on a 980-gram neonate with severe coarctation of the aorta. Upon reviewing the literature, we found no cases of balloon angioplasty for coarctation performed via the femoral vein in infants with a lower birth weight than in our case. Our aim is to underline that each patient may require individual evaluation and management options.
Application of comprehensive nursing combined with ISBAR handover approach in the nursing of patients with placental abruption
The research for this paper was conducted to unveil the effect of comprehensive nursing combined with the Identification-Situation-Background-Assessment-Recommendation (ISBAR) handover approach in the nursing of patients with placental abruption.
[Primary and secondary cerclage in high-risk pregnant women: Influence on prolongation of pregnancy and preterm birth]
The aim of the study was to evaluate the effectiveness of cerclage in women with previous late miscarriages or premature births. The primary aim was to prolong pregnancy and achieve a term delivery. Secondarily, it was investigated whether an intervention after an early pathological 75-g-oGTT result influences these endpoints.
Intrapericardial Teratoma and Associated 3q29 Deletion in a Fetus: Case Report
Depending on its location, size, and proximity to the cardiac structures, an intrapericardial teratoma may lead to severe circulatory disturbances and even fetal demise. A 34-year-old G2P1 presented at 20w5d with a solid cystic mass in the right thorax of the fetus, originating from the right atrium or lung, with signs of non-immune fetal hydrops, soon resulting in intrauterine fetal death. Detailed post-mortem autopsy revealed signs of hydrops fetalis universalis due to a spherical tumor mass originating from the aortic root. Histologic examination of the tumor showed the characteristic morphology of a teratoma. A 1.6-Mb microdeletion at 3q29 was identified by single nucleotide polymorphism array. This is the first report presenting the diagnosis of an intrapericardial teratoma in a fetus with a microdeletion of 3q29. Intrapericardial teratoma has a poor prognosis and the fetal outcome relies on the development of hydrops. A post-mortem examination is essential in order to make a definitive diagnosis, which underlines the status of the fetal pathologist and the need for interdisciplinary cooperation.
A new technique: Acar's atony suture for postpartum uterine hemorrhage
This study aims to define a new compression suture technique that is easy to apply and effective in stopping PPH immediately.
Fetal Gastroschisis: Maternal Epidemiologic Profile and Influence of Possible Risk Factors on Neonatal Outcomes
The aim of this study was to evaluate the maternal epidemiological profile for gastroschisis as well as to assess whether the presence of meconium at birth was associated with adverse neonatal outcomes.
The Immunohistochemical and Bioinformatics Analysis of the Placental Expressions of Vascular Cell Adhesion Protein 1 (VCAM-1) and High Mobility Group Box 1 (HMGB1) Proteins in Gestational Diabetic Mothers
We aimed to examine both the expression levels of high mobility group box 1 (HMGB1) and vascular cell adhesion molecule-1 (VCAM-1) proteins in the placentas of pregnant women with gestational diabetes mellitus (GDM) and control groups by immunohistochemical (IHC) method.
[Structural Challenges to the Reimbursement of Corrective Surgery of Complex Malformations Through the German G-DRG System]
The rare reason for massive lactic aciduria and mitochondrial disorders: combined oxidative phosphorylation deficiency type 23 (COXPD23)
Mitochondrial respiratory chain dysfunction and impaired oxidative phosphorylation are rare but significant causes of mitochondrial diseases in children, presenting with diverse clinical features. Combined oxidative phosphorylation deficiency type 23 (COXPD23), an autosomal recessive disorder due to GTPBP3 gene mutations, typically manifests as lactic acidosis, hypertrophic cardiomyopathy, and encephalopathy. This case report describes a male infant born at 35 weeks gestation, who exhibited severe lactic aciduria and hypotonia but no cardiomyopathy, which is atypical for COXPD23. Genetic analysis revealed a novel homozygous missense variant in the GTPBP3 gene. Despite intensive metabolic and supportive treatments, the patient's condition worsened, leading to death on the 23rd day. This case emphasizes the need to consider mitochondrial cytopathies in neonates with persistent metabolic acidosis and hyperlactatemia and highlights the importance of early genetic screening for accurate diagnosis and management.
Rare Diseases and Syndromes Observed in Newborn Babies with Idiopathic Hypertrophic Pyloric Stenosis
Although infantile hypertrophic pyloric stenosis is a multifactorial disease caused by genetic and environmental factors, the role of genetic factors has become more important recently. With this study, we aimed to present rare diseases accompanying infantile hypertrophic pyloric stenosis caused by genetic factors.
[Survey on the State, Potential, and Obstacles of the Digital Transformation in Human Milk Banks]
Digitalization of human milk banking was examined in a survey among participants of the largest German-speaking symposium for human milk banks. Of the 100 participants, 47% were nurses, 23% were physicians, and 3% were midwives. The overwhelming majority (96%) desired more digitalization in their milk bank. The best-digitized processes were clinical results from donors, milk labeling, and milk orders. At the same time, a discrepancy between the maximum conceivable potential and the current implementation of digital transformation became evident. The survey revealed most participants use in-house digital solutions. Potential main advantages of digitalization were cited as efficiency gains, while implementation efforts and security concerns, particularly power outages and cyberattacks, were seen as disadvantages. Financial restraints, personnel shortage, resistance from local IT departments, and legal concerns were perceived as the biggest barriers. Despite these challenges and a critical examination of the disadvantages, the participants expressed strong optimism and a desire for further digitalization in the human milk bank sector.
[AI-supported decision-making in obstetrics - a feasibility study on the medical accuracy and reliability of ChatGPT]
The aim of this study is to investigate the feasibility of artificial intelligence in the interpretation and application of medical guidelines to support clinical decision-making in obstetrics. ChatGPT was provided with guidelines on specific obstetric issues. Using several clinical scenarios as examples, the AI was then evaluated for its ability to make accurate diagnoses and appropriate clinical decisions. The results varied, with ChatGPT providing predominantly correct answers in some fictional scenarios but performing inadequately in others. Despite ChatGPT's ability to grasp complex medical information, the study revealed limitations in the precision and reliability of its interpretations and recommendations. These discrepancies highlight the need for careful review by healthcare professionals and underscore the importance of clear, unambiguous guideline recommendations. Furthermore, continuous technical development is required to harness artificial intelligence as a supportive tool in clinical practice. Overall, while the use of AI in medicine shows promise, its current suitability primarily lies in controlled scientific settings due to potential error susceptibility and interpretation weaknesses, aiming to safeguard the safety and accuracy of patient care.
[Relationship between volume and structural characteristics and the quality of outcomes of perinatal centers for infants at the border of viability]
This study investigates the relationship between volume, structural characteristics and quality of outcome, specifically for infants at the border of viability.
[Pneumonia due to Mycoplasma hominis in a Full-Term Newborn - A Case Report with Literature Review]
Mycoplasma ssp can colonize various human tissues and can cause infections. Their lack of a cell wall makes them difficult to cultivate and to treat as they are resistant to beta-lactam antibiotics. Mycoplasma hominis and ureaplasma urealyticum can colonize the genital tract. While colonization in healthy adults is usually asymptomatic, they can cause neonatal infections during pregnancy through transmission to the fetus or during birth and lead to increased morbidity and mortality, especially in premature infants. However, in full-term neonates with high colonization rates, the pathogenic role and its treatment is controversial. In the following, we present a case of neonatal pneumonia caused by M. hominis in a full-term neonate, which was successfully treated with clindamycin. Mycoplasma spp. can cause symptomatic infections in neonates in individual cases and should be considered as potential pathogens, especially in the case of a protracted course.
Evaluation of Ophthalmic Artery Doppler Parameters in Preeclamptic and Normotensive Pregnant Women
Preeclampsia, whose pathophysiology is still not fully elucidated today, is a pregnancy-specific disease that affects most organ systems in pregnant women, including the central nervous system. In this context, we aimed to investigate the effects of preeclampsia on blood flow in the ophthalmic artery of the eye, which is considered a part of the central nervous system.