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Background: Breast cancer remains the most frequently diagnosed cancer in female population worldwide. However, germline mutations are responsible for a small proportion of these cases. The aim of our study is to assess how germline mutations influence the management and outcome of these patients taken into consideration both their cancer diagnosis and genetic assessment. Methods: We performed a retrospective analysis in a women's single-center during a period of six years to assess the contribution of germline mutation in the treatment, prognosis and survival of breast cancer patients. Statistics were collected from both the patients' medical records and genetics department. Results: From the total number of patients treated for breast cancer in our department between 2017 and 2022, 243 were eligible for genetic testing, comprising either BRCA1/2 or extended panel, taking into consideration their personal and family history. Of all subjects included in our study cohort, 5% were carriers of a pathogenic(P) or likely pathogenic(LP) variant of cancer susceptibility gene, of which 78% were diagnosed before the age of 50; triple negative disease was diagnosed in the majority of cases, and therefore, 62% of patients started treatment with systemic neoadjuvant chemotherapy and 32% of subjects underwent upfront surgery. Prophylactic surgery for contralateral breast and bilateral salpingo-oophorectomy was considered and performed for 20% of patients. Less than 2% of cases had metastatic disease and received PARP inhibitors, with excellent treatment response and a very low rate of mortality in the study group. Conclusion: Carriers of pathogenic variants with breast cancer diagnosis may have a greater benefit from a tailored approach, including both surgical and oncological treatment, with better long-term outcomes. [ABSTRACT FROM AUTHOR]

Background: Asthma is the most common respiratory disorder affecting women during pregnancy. Although it is a reversible disease, it may adversely affect maternal quality of life and perinatal outcomes, especially in severe and inappropriately managed cases. Conversely, pregnancy influences the course of asthma through the physiological respiratory, hormonal, and immune system changes. Exacerbations are a key feature of asthma, representing a significant problem if severe, requiring aggressive medical intervention, hospital and even ICU admission. Purpose: The purpose of this article is to summarize the current knowledge and to provide a comprehensive overview of asthma in pregnancy. We also want rising awareness among patients and clinicians on the importance of proper asthma management during pregnancy. Data sources: A comprehensive literature search in PubMed, Medline, and Taylor& Francis was performed. We have searched for review articles as well as prospective and retrospective studies published in English, investigating the bilateral relationship between asthma and pregnancy, using the key words mentioned bellow. Manual search through both national and international guidelines as well as relevant journals and publications on the topic has been also conducted. Conclusions: Optimal asthma control, preventing, detecting, and treating the exacerbations are of the utmost importance to minimize the adverse effects for both the mother and fetus/neonate. Guidelines recommend active asthma management during pregnancy. Strong support prior and throughout the pregnancy and individualized treatment, guided by a multidisciplinary team, is suggested. Education on the importance of anti-asthmatic therapy, avoiding triggers, frequent and accurate monitoring are essential for good asthma management. Considering the pandemic, we are facing and the potential impact of COVID-19 on asthma, Global Initiative for Asthma (GINA) guideline recommendations for physicians are mentioned in the present article. [ABSTRACT FROM AUTHOR]

Coronaviruses are a group of viruses which, even if they are affecting mainly mammals and birds, could be transmitted to humans, generating common cold. The new virus strain is named SARS-CoV-2 and has 85% sequence similarity to SARS-CoV. Until now, it has caused more than 100 000 confirmed cases of infection and almost 5000 deaths, having a mortality rate of 4%. All information (symptoms, signs, management, complications) are taken from the other pandemic infections (SARS, MERS). Information about viral infection concerning pregnant women are limited and are common to other SARS infections. There are very few cases of pregnant patients infected with SARS-CoV-2 and studies are ongoing. [ABSTRACT FROM AUTHOR]

Prenatal sonographic assessment of the posterior fossa in the mid-sagittal plane at 11-14 weeks' gestation has been highlighted as an essential diagnostic step by the current literature. This approach is used for the early detection of open spina bifida during the first trimester by analyzing the three spaces of the posterior fossa: brain stem, the fourth ventricle and cisterna magna. Abnormal size of fetal posterior fossa spaces is an important sign in the diagnosis of fetuses with central nervous system malformation and needs to be submitted for differential diagnosis when any alterations are observed. Among them, Dandy-Walker malformation is one of the major causes of congenital hydrocephalus, being a rare condition, with poor-prognosis, manifested by enlarged posterior fossa. On the basis of available evidence, the assessment of the fetal posterior cranial fossa is feasible from 11 to 14 weeks gestational age and it is believed that abnormal appearance of the posterior fossa at this stage of pregnancy could improve early detection of Dandy-Walker malformation by prompting an early second trimester ultrasound evaluation. [ABSTRACT FROM AUTHOR]

Endometriosis is a frequent gynecological disease among women of reproductive age, a benign condition with an uncertain etiology, but with multiple theories being proposed as main mechanisms of development. Perineal endometriosis is an uncommon condition, with various theories about its pathogenesis including the contiguous propagation of endometrial tissue over the episiotomy perineal scar. A 36-year-old woman, G2 P2, presented with cyclic inflammation and pain in the episiotomy area, with significant impairment of her daily quality of life. Clinical examination revealed a palpable mass in the episiotomy area and a probable clinical diagnosis of perineal scar endometriosis was considered, with further investigation being recommended. The patient was surgically treated by local excision of the perineal mass and the histopathologic examination of the mass confirmed the diagnosis of perineal endometriosis in the episiotomy scar. Although perineal endometriosis remains a rare condition, it should be considered in all patients with an anterior vaginal delivery and a painful perineal mass during menstrual cycle, a wide excision of the affected tissue remaining the best option for a permanent cure. [ABSTRACT FROM AUTHOR]

Background: RhD alloimmunization remains a severe problem worldwide, but its management has been revolutionized by two important discoveries: the possibility to establish fetal Rh genotype non-invasively by using a maternal blood sample, and using of Doppler velocimetry to monitor early signs of affected fetuses. Materials and methods: We performed a literature review by searching PubMed for relevant information about diagnosis, prognosis, and management of secondary affected Rh alloimmunized pregnancies. Results: The risk to develop fetal anemia and hydrops seems to increase with increasing concentrations of Rh antibodies, and studies show it is higher for subsequent pregnancies. Individuals presenting the DEL phenotype with the types 1, 2 or 3 can be considered RhD positive and anti-D immune globulin is not indicated. Discussions: Medical algorithm involves previous pregnancy history together with serum parameters. Follow-up in a department of maternal fetal medicine is desired and encouraged in these cases. Depending on the severity and woman’s previous pregnancy history, especially condition prior to 24 weeks of gestation, several therapies such as plasmaphereses, intravenous immune globulin or intrauterine transfusions can be conducted. Intrauterine transfusions have a better prognosis when performed earlier and on fetuses without hydrops. Conclusions: Although the incidence of hemolytic disease of the fetus and newborn has decreased and is no longer a major cause of perinatal mortality, vigilance is still required. There is a strong argument for reunite the management of these cases in dedicated maternal fetal medicine centers that perform invasive procedures in order to improve knowledge, gain skills and enhance clinical management. [ABSTRACT FROM AUTHOR]

Objectives: The aim of the current study is to assess the prevalence of hepatitis B and the risk of hepatitis reactivation in carriers of hepatitis B virus (HBV) cancer patients who underwent chemotherapy for gynecologic and/or breast cancers in a single institution, during a period of five years, and to identify a relationship to some particular chemotherapy regimen, more prone to lead to reactivation. Materials and methods: We conducted a retrospective chart review on all consecutive oncological patients treated for a gynecologic and/or breast cancers who presented for the first time to the Gynecologic Oncology Department of Filantropia Hospital, Bucharest, Romania, between January 2016 and December 2020. Results: A total of 1 895 patients diagnosed with ovarian, cervical, endometrial or breast cancers were admitted to hospital for systemic therapy during the mentioned period. Among these, only four patients (two patients with breast cancers, one cervical cancer and one endometrial carcinoma) were chronic carriers of HBV surface antigen (HBsAg positive). Patients received a variety of chemotherapeutic regimens including corticosteroids, gemcitabine, cisplatin, carboplatin, taxanes and anthracyclines. We report one reactivation that occurred in one occult carrier of hepatitis B virus diagnosed with breast cancer (HBsAg negative, hepatitis B core antibody positive - HBcAb), initially excluded from this study, as being screened negative for HBV, treated with taxanes-based chemotherapy and corticosteroids. Conclusion: HBV reactivation had a low incidence in our population of patients diagnosed with gynecologic or breast cancer who received systemic chemotherapy. The HBV reactivation risk was positively correlated with breast cancer and to taxanes-based regimens and glucocorticoids. Further studies to identify additional risk factors of HBV infection reactivation in gynecologic oncology patients and possible risk reducing measures are warranted. [ABSTRACT FROM AUTHOR]

Binder syndrome and Nager syndrome are part of the spectrum of skeletal dysplasias. Although exceedingly rare, both syndromes are amenable to prenatal diagnosis because they present with features that can be detected by prenatal ultrasound. Genetic prenatal diagnosis is sometimes possible but remains difficult if the etiology of the disease is not homogenous. In cases of severe skeletal dysplasias, the prognosis is unfavorable irrespectively of the genetic defect. In cases with only mild structural anomalies, prenatal counselling is especially difficult. We present cases of Binder syndrome and Nager syndrome diagnosed by us prenatally. We elaborate on the etiology of Binder syndrome and discuss the current classification of facial dysostoses. [ABSTRACT FROM AUTHOR]

The theory of multicyclic development of follicles during the menstrual cycle prompted new approaches to ovarian stimulation such as double stimulation within the same menstrual cycle, in both follicular and luteal phases. New stimulation approaches, together with cryopreservation techniques, provide higher chances for patients with poor ovarian response who undergo in vitro fertilization (IVF) to get pregnant. The double ovarian stimulation protocol has been proposed to optimize the number of oocytes retrieved within the shortest possible timeframe. Moreover, the short overall duration of this strategy is also useful in cases of a fertility preservation that requires rapid intervention before administering a gonadotoxic therapy, such as in oncologic therapy. In general, the aim of DUOSTIM is to obtain the highest number of oocytes in the shortest time, thus avoiding waste of time, which is crucial for these patients. Several protocols have been proposed with similar results, regardless of the protocol used. [ABSTRACT FROM AUTHOR]

Cytomegalovirus (CMV) is the most common cause of perinatal viral infection, affecting 0.2-2.2% of all neonates, with variation among different study populations. It can cause serious long-term neurological sequelae, being the leading cause of non-genetic congenital hearing loss. The risk of congenital infection is highest after primary maternal infection, varying between 30-70% and depending on the gestational age at the time of infection. Although CMV can have serious neurodevelopmental consequences, in most developed countries current guidelines do not recommend routine screening for CMV in pregnancy, since current tests have a low predictive value for cases with serious adverse outcome and efficient therapeutic options are not standardized yet. In Romania there is a routine clinical practice to offer screening for most common causes of infections, including CMV, in the first trimester of pregnancy. In these settings, this review summarizes the current methods of diagnosis and management of CMV infection in pregnancy [ABSTRACT FROM AUTHOR]

Polyhydramnios is frequently seen in patients with diabetes in pregnancy, as well as in cases of fetal malformations. The aim of our paper is to present a rare case of a fetus with anomalies of the precordial veins (absent ductus venosus, intracardiac drainage of the umbilical vein, persistent left superior vena cava) and upper intestinal tract obstruction. The mother developed gestational diabetes and polyhydramnios, in this case. The 29-year-old patient was admitted to our hospital at 35 weeks of gestation with ruptured membranes. Cesarean section was performed. A live baby boy, 2400 g, with multiple congenital abnormalities (including esophageal atresia) was delivered. Our case illustrates the diagnostic approach to polyhydramnios and the difficulty to prenatally diagnose esophageal atresia, in the context of a fetus with multiple malformations. [ABSTRACT FROM AUTHOR]

Objective: In Romania, a national statistics report on the mode of delivery in pregnancies that ends in stillbirths has never been conducted. Thus, we decided to analyze the incidence of cesarean section versus vaginal delivery rate over a 10-year period in Filantropia Clinical Hospital of Bucharest. Materials and Methods: We conducted a retrospective analysis over a period of 10 years from January 2005 to December 2015. Maternal age, parity, social status, place of origin, educational level, gestational age, fetal presentation and fetal sex were studied in order to see if there were a scientific correlation with death in utero. Results: Between 2005 and 2015, Filantropia Clinical Hospital had a total of 31676 births after the 28th week of gestation. During this time period, 174 (0.55%) stillbirths were registered. The overall number of cesarean sections in live-births was 13199 (41.7%) and the rate of cesarean sections calculated for the stillbirth was 17.24% (30/174). Conclusion: Our study revealed that the rate of cesarean sections in stillbirth had a dramatic decrease based on the adoption of guidelines reflecting evidence based medicine. The vast majority of pregnancies included in our study did not undergo standard perinatal tests and screenings that ensure a healthy and safe delivery, as it is a known fact that many causes of perinatal deaths can be prevented by health care access and perinatal regular visits. We suggest that a proper follow up in the last trimester and easy access to health care facilities can lower the incidence of stillbirths in Romania. [ABSTRACT FROM AUTHOR]

Crohn's disease (CD) is a chronic inflammatory bowel disease with onset during reproductive age. Advancement in medical therapies and treatment strategies have made pregnancy following a diagnosis of CD a viable and safe option for more women with this disease. In this review we discuss the evidence based management of Crohn's disease during pregnancy. [ABSTRACT FROM AUTHOR]

Thrombocytopenia, defined as blood platelet count below 150,000/µL is the second leading cause of blood disorders in pregnancy after anemia. Gestational thrombocytopenia explains 70-80% of all cases of thrombocytopenia in pregnancy. Hypertensive disorders account for approximately 20% and immune thrombocytopenic purpura for about 3-4%. Other etiologies are considered rare in pregnancy. The aim of this study is to review the specific causes of thrombocytopenia in pregnancy, their obstetrical implications and management. [ABSTRACT FROM AUTHOR]

Background. Encountered between methods of contraception, tubal sterilization is not a priority in Romania. Moreover, many women regret their decision a few years later. The aim of this study is to present the reproductive outcome reported in Filantropia Clinical Hospital after laparoscopic tubal reanastomosis. Case reports. Here we present two cases which underwent laparoscopic reversal. The first case opted for reversal tubal ligation after seven years from her single cesarean section. Despite the unilateral recanalization achieved, the woman conceived after only six months. The second case was more challenging, taking into consideration the patient's medical history. Despite both tubes being permeable at the end of the procedure, the patient did not conceive at the time being. Conclusion. Our experience confirms that laparoscopic tubal reanastomosis is also available in tertiary centers in Romania and could be a safe method for women who seek reversal, shortly after tubal sterilization. The success rate is unknown due to the limited number of cases. Therefore, further research is required. [ABSTRACT FROM AUTHOR]