Diagnosis of thanatophoric dysplasia using clinical exome screening.

Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.

Retained products of conception - a retrospective analysis of 200 cases of surgical procedures for the diagnosis of residua postpartum.

OBJECTIVES: Postpartum retained products of conception are a relatively rare diagnosis occurring in approximately 1% of cases after spontaneous deliveries and abortions. The most common clinical signs are bleeding and abdominal pain. The diagnosis is based on clinical signs and ultrasound examination. MATERIAL AND METHODS: Retrospective analysis of 200 surgical procedures for the diagnosis of residua postpartum obtained in 64 months. We correlated the method and accuracy of diagnosis with definitive histological findings. RESULTS: During 64 months, we performed 23 412 deliveries. The frequency of procedures for diagnosis of retained products of conception (RPOC) was 0.85%. Most (73.5%) of the D&C were performed within six weeks of delivery. Histologically, the correct diagnosis was confirmed in 62% (chorion + amniotic envelope). There was interestingly lower concordance of histologically confirmed RPOC in post-CS patients (only 42%). In women after spontaneous delivery of the placenta, the diagnosis of RPOC was confirmed by histological correlate in 63%, and the highest concordance occurred in women after manual removal of the placenta in 75%. CONCLUSIONS: Concordance with histological findings of chorion or amnion was seen in 62% of cases; this means that the incidence rate in our study was around 0.53%. The lowest concordance is after CS deliveries, 42%. D&C for RPOC should be performed after adequate clinical evaluation and in the knowledge of 38% false positivity. There is certainly more space for a conservative approach under appropriate clinical conditions, especially in patients after CS.

The amenorrhea as a protective factor for healing of hysterotomy - a retrospective analysis one year postpartum.

OBJECTIVES: The good healing of the hysterotomy after cesarean section is important for subsequent pregnancies. However, the factors which improve this healing have not been completely described, yet. In this study, we focused on factors which may affect healing of hysterotomy within one year after delivery, such as menstruation, breastfeeding, and the use of the contraception. MATERIAL AND METHODS: Following delivery, total of 540 women were invited for three consecutive visits at six weeks, six months, and 12 months postpartum. The presence of menstruation, frequency of breastfeeding and contraception use were recorded. The scar was evaluated by vaginal ultrasound as already described. The impact of menstruation, breastfeeding, and contraception method on presence of niche was evaluated. RESULTS: The presence of menstruation increased odds to have niche by 45% (CI 1.046-2.018, p = 0.026). Secondarily, our results demonstrated a statistically significant protective effect of breastfeeding on the incidence of niche with OR 0.703 (CI 0.517-0.955, p = 0.024). Breastfeeding decreases odds to have niche by 30%. Also, the use of gestagen contraception lowered the odds by 40% and intrauterine device (IUD) or combine oral contraceptive (COC) by 46.5%. The other possibly intervening factors were statistically controlled. CONCLUSIONS: Amenorrhea, breast-feeding and progesterone-contraceptive decreases the risk of uterine niche within one year follow up.

Vaccination against influenza in pregnant women in a maternity hospital in the Czech Republic in the season 2020-2021.

OBJECTIVES: Pregnant women are among the priority groups to receive influenza vaccines in the Czech Republic since 2011, data on vaccination coverage are not yet available. The aim of the study was to determine the influenza vaccination coverage (IVC) and provide source data for further activities. METHODS: A prospective observational study was performed in a large maternity hospital in Prague. The self-completed questionnaire was distributed to 5,475 pregnant women between September 1, 2020 and August 31, 2021. Questions included maternal sociodemographic characteristics, influenza vaccination status and sources of maternal vaccination recommendations during pregnancy. RESULTS: A total of 4,617 completed questionnaires have been analysed. The median age of study participants (N = 4,592) was 33 years (range: 18-51 years). The majority (69.7%) of women had completed their university education, most women were childless (58.5%) or had one child (32.5%) before the start of the study. Less than 2% of women reported being vaccinated against influenza during their pregnancy (1.5%; 95% CI, 1.1-1.9%). Only 21% of women knew that it's possible to get vaccinated against influenza during pregnancy. Participants considered influenza vaccination in pregnancy as important (3.3%), useful (41.1%) and useless (44.4%). Out of 959 pregnant women who had information about influenza vaccination during pregnancy, only 6.9% were vaccinated, while among those who did not have this information, 0.1% were vaccinated during pregnancy (p < 0.001). The most frequent source of information was Internet, then media and a general practitioner. CONCLUSIONS: The IVC during pregnancy in our study was extremely low. In order to improve IVC among pregnant women, it is necessary to increase awareness of recommendations and vaccination options among the public and professionals and incorporating vaccination recommendation in routine antenatal practice.

A severe case of pemphigoid gestationis persisting after labour - case report and review of the literature.

BACKGROUND AND AIM: Pemphigoid gestationis (PG) is a rare skin disease of pregnancy. Given its incidence in pregnant women, physicians and especially obstetricians may not encounter this diagnosis in their entire career. We find this to be a major problem and there is an obligation to report it in as much detail as possible along with recommended treatments with proven efficacy. CASE REPORT: We describe the case of a 27 year old patient who was referred to the dermatology department with severe dissemination of blisters in the 9th week of pregnancy. She was diagnosed with pemphigoid gestationis in her first pregnancy. High doses of corticosteroids were initiated but due to inadequate effect cyclosporine was added. The pregnancy was complicated with gestational diabetes. The patient gave birth in her 33rd week by caesarian section due to premature rupture of the membrane. Vesicles were seen on the newborn immediately after birth which diminished spontaneously over 2 weeks. Blisters were still seen on the patient 1 month after labor even with the combination of systemic corticosteroids with cyclosporine. CONCLUSION: PG is a rare dermatosis of pregnancy. The course of the disease can be severe, necessitating systemic therapy. As described in this patient, systemic corticosteroids may not be sufficient and adding another immunosuppressive treatment may be needed. If pemphigoid gestationis has occurred during a previous pregnancy it is advised to reconsider another pregnancy.

Complications of planned home births in the Czech Republic.

OBJECTIVES: This study evaluated complications that can occur during planned home births that require transfer to the hospital. These factors were assessed to improve the current status of deliveries performed outside health care facilities in the Czech Republic. MATERIALS AND METHODS: This prospective cohort study included data on 105 cases of complicated home births during 2017 to 2021 using an online form accessible to all hospital maternity wards in the Czech Republic. RESULTS: Planned home births were complicated by fetal/neonatal causes, maternal causes, and combined fetomaternal complications in 28 (26.7%), 20 (19%), and 2 (1.9%) cases, respectively. The need for transfer was most often realized after the birth of the fetus (86; 81.9%); however, it was realized during birth in 19 (18.1%) cases. The following complications were noted most often: postpartum hemorrhage (23; 21.9%); neonatal asphyxia (17; 16.2); placental retention (14; 13.3%); birth injury (12; 11.4%); neonatal hypothermia (5; 4.8%); and placental birth (5; 4.8%). Indications for transfer during labor were as follows: labor obstruction (10; 9.5%); fetal hypoxia (5; 4.8%); bleeding during labor (2; 1.9%); preeclampsia (1; 0.9%); and fetal malformation (1; 0.9%). Perinatal death occurred in 8 (7.6%) cases. Permanent neonatal morbidity occurred in 4 (3.8%) cases. CONCLUSIONS: Patients with home birth complications were transferred to the hospital most often after the birth of the fetus. The low proportion of transfers during childbirth is caused by the unprofessional management of planned home births, resulting in a high number of perinatal deaths and high rate of permanent neonatal morbidity.

Parasomnias in Pregnancy.

OBJECTIVES: Pregnancy is often associated with reduced sleep quality and an increase in sleep disorders, such as restless leg syndrome, obstructive sleep apnea, and insomnia. There are few studies investigating the prevalence of parasomnias in pregnancy, although they may be expected to be a significant problem, as disturbed sleep in this time period in addition to these sleep disorders may trigger parasomnia episodes. METHODS: We conducted a survey using an online questionnaire focusing on a comparison of the prevalence of parasomnias in three time periods: 3 months before pregnancy, during pregnancy, and 3 months after delivery. We also inquired about psychiatric and neurological comorbidities, current anxiety and depression symptoms, and pregnancy complications. RESULTS: A total of 325 women (mean age 30.3 ± 5.3 years) participated in the online survey. The overall number of reported parasomnias increased during pregnancy compared to the 3 months before pregnancy (p < 0.001) and decreased after childbirth (p < 0.001). Specifically, we found a significant increase in sleepwalking (p = 0.02) and night terrors (p < 0.001), as well as in vivid dreams (p < 0.001) and nightmares (p < 0.001) during pregnancy. A similar significant increase during pregnancy was reported for head explosion (p < 0.011). In contrast, the number of episodes of sleep paralysis increased after delivery (p = 0.008). At the individual level, an increase in the severity/frequency of individual parasomnia episodes was also observed during pregnancy. Participants whose vivid dreams/nightmares persisted after delivery had higher BDI-II and STAI-T scores. Our data also suggest a significant impact of migraines and other chronic pain, as well as complications during pregnancy, on the presence of parasomnia episodes in our cohort. CONCLUSIONS: We have shown that the prevalence of parasomnias increases during pregnancy and needs to be targeted, especially by non-pharmacological approaches. At the same time, it is necessary to inquire about psychiatric and neurological comorbidities and keep in mind that more sleep disorders may be experienced by mothers who have medical complications during pregnancy.

Monitoring the vaccination of pregnant women against pertussis - single-centre one-year study in the Czech Republic.

OBJECTIVES: This observational study aimed to analyse data from big maternity hospital, determine the vaccination coverage and provide source information for further activities. BACKGROUND: Although vaccination of pregnant women against pertussis is recommended in the Czech Republic, data on vaccination coverage are not available. METHODS: The self-completed questionnaire was distributed to 5,475 pregnant women in the maternity hospital between 2020 and 2021. Questionnaires collected mother's sociodemographic characteristics, pertussis vaccination status and sources of recommendations for vaccinations during pregnancy. RESULTS: A total of 4,617 completed questionnaires were analysed. Pertussis vaccination coverage during pregnancy was 1.6 % (95% confidence interval, 1.3-2.0 %). Only 12.5 % of women knew about the possibility of being vaccinated against pertussis during pregnancy. Women considered pertussis vaccination in pregnancy as important (12.9 %), useful (49.1 %) and useless (24.0 %). Of 579 pregnant women who had information about pertussis vaccination during pregnancy, only 12.1 % were vaccinated, while among those who did not have this information, 0.1% were vaccinated during pregnancy (p < 0.001). The most frequent source of information was Internet, then a general practitioner. CONCLUSION: It is necessary to raise awareness of recommendations for pregnancy vaccination among public and professionals, to emphasize the benefits of such vaccination in order to increase the vaccination coverage (Tab. 3, Ref. 31). Text in PDF www.elis.sk Keywords: pertussis, whooping cough, pregnancy, vaccination, health knowledge, prevention.

Endometriosis in postmenopause.

In our review article, we focused on the rare topic of endometriosis in postmenopause. Endometriosis is primarily a disease of women of reproductive age. In postmenopause, atrophy of endometriosis foci usually occurs. However, recurrence or even de novo occurrence of endometriosis in postmenopause has also been described. The prevalence in postmenopause has been reported to be around 2-5%. Factors that may account for the recurrence of endometriosis are exogenously administered estrogens, self-production of estrogens in peripheral adipose tissue, or activation of aromatase in the focus of endometriosis. When hormonal therapy is required, the best results are achieved by administration of Tibolone. Risk factors for recurrence and subsequent difficulties are the extent of endometriosis, the retained uterus and adnexa. Pain was the most common symptom in 43.5% and palpable finding in 28%. Endometriotic cells are capable of proliferation, survival in an ectopic localization and metastasis to distant locations. The risk of malignant transformation is around 1% and the most common are ovarian tumors. Endometriosis-associated ovarian tumors are typically low-grade disease, histologically endometrioid or clear cell carcinomas. Dia-gnosis is based on ultrasound and magnetic resonance imaging. The basis of therapy for newly developed endometriosis or when symptoms associated with the risk of endometriosis appear is a surgical solution, primarily to exclude the cancerous process.

Triple pregnancy - etiology and early diagnosis.

OBJECTIVE: To provide an overview of the etiology and early dia-gnosis of triple pregnancy, with emphasis on the possibilities of ultrasound and magnetic resonance (MR) imaging. METHODOLOGY: Processing of data from the available literature on the issue of triple pregnancy. CONCLUSION: Spontaneous triple pregnancy conception is rare. In most cases, it is a concept associated with assisted reproduction methods. Multiple pregnancy is associated with a higher incidence of complications during pregnancy and childbirth, but it also has its own specific complications. Chorionicity and amnionicity of multiple pregnancies are two important parameters in determining the strategy of dispensary care in pregnancy and management of childbirth. The use of ultrasound and MR imaging is crucial for their accurate determination in early pregnancy.

Cesarean scar pregnancy - a retrospective analysis of cases in the years 2012-2021.

INTRODUCTION: With the increasing number of caesarean sections, the number of cesarean scar pregnancies (CSP) is also increasing. This is a relatively new entity of an ectopic pregnancy, which is risky mainly because of its possible association with placenta accreta spectrum. CSP is thought to represent about 6% of the total number of ectopic pregnancies in all women who have a history of at least one caesarean section. The estimated incidence of CSP is about 1/1,688 of all pregnancies and about 1/2,000 of all caesarean sections. MATERIAL AND METHODS: Retrospective analysis of individual cases of cesarean scar pregnancies managed in our health care facility in the years 2012-2021. RESULTS: In total, we managed 16 cases of pregnancy in the caesarean scar in 15 women. In one woman, we recorded CSP twice. The mean age of the women was 36.6 years (27-41). The mean number of caesarean sections was 1.6 (1-3) and gestational week was 7 (4-10). The average time since the caesarean section was 3.6 years (2-11). The management was methotrexate administration once, hysteroscopic resection once and 11times primarily vacuum aspiration only, when in two cases we had to attach laparoscopic uterine artery ligation due to postoperative bleeding. We performed primary ligature of uterine arteries twice before performing vacuum aspiration. In pregnancies above 10 weeks of gestation, we observed more bleeding complications requiring surgical management. Bleeding complications were also related to the presence of fetal cardiac action. CONCLUSION: Early correct dia-gnosis is essential in the management of CSP. Pregnancies up to the 10th week of gestation are managed by simple vacuum aspirations under ultrasound guidance. If the pregnancy is over the 10th week of gestation and especially with cardiac activity, we add laparoscopic uterine artery ligation before vacuum aspiration. All patients are subsequently advised to undergo laparoscopic resuturing of the lower uterine segment.

Amniotic fluid embolism - review and multicentric case analysis.

Amniotic fluid embolism (AFE) is a rare and often fatal obstetric complication, characterized by sudden cardiovascular collapse, dyspnea, seizures, mental alteration or coma and laboratory and clinically dia-gnosed disseminated intravascular coagulation (DIC). Patients reaction is typically biphasic with initial pulmonary hypertension and right ventricular failure, followed by left ventricular failure during or immediately right after labor. Early recognition of AFE is critical to a successful survival. Aggressive shock management is needed in collaboration with an anesthesiologist. Several aspects of the condition remain a controversy. This review critically examines, from the best available evidence, the current knowledge regarding the epidemiology, pathophysiology, dia-gnosis, and available treatment of AFE. This dia-gnosis still determines perinatal morbidity and mortality and potential permanent neurological symptoms for surviving patients.

Telemedicine in prenatal care.

Telemedicine, as a health service provided remotely, is increasingly becoming a common part of health care. Telemedicine is defined as "an umbrella term for health activities, services and systems operated remotely through information and communication technologies to promote global health, prevention and health care, as well as education, health management and health research". It also describes telemedicine as "the provision of services where distance is a critical factor, using information and communication technologies to exchange valid information for the diagnosis, treatment and prevention of disease and injury, for research and evaluation, and for the continuing education of healthcare providers to improve the health of individuals and communities". Both definitions imply that two of the hallmarks of telemedicine include the use of communication and information technologies to overcome distance as a critical factor, a factor that is well known to us, not least from the recent months of the COVID-19 pandemic. Distance medicine can thus act as a tool for improving access to health care and also complement health care itself in a very appropriate way.

Hydronephrosis as a symptom of clinically silent ureteral endometriosis.

OBJECTIVE: We present two case reports of asymptomatic ureteral endometriosis leading to hydronephrosis. We demonstrate the significance of routine ultrasound scanning of the upper urinary tract in patients with dia gnosed deep infiltrating endometriosis. CASE REPORTS: The first case report describes a symptomatic patient after a surgery for deep endometriosis. After the surgery, she was completely without symptoms, but during regular check-ups she developed progressive hydronephrosis on the right side and it did not respond to conservative treatment. Surgery deliberation of the ureter was indicated. The second case report describes a patient with already developed severe hydronephrosis on the left side. The functional kidney examination proved complete renal loss of the left kidney. Because of recurrent pyelonephritis in the nonfunctional kidney, nephrectomy was indicated. CONCLUSION: Ureteral endometriosis presents a rare, but insidious form of endometriosis, which is very often asymptomatic and diagnosed at a later stage. It can cause a complete silent loss of renal function. Routine ultrasound scanning examination of the upper urinary tract in all patients with diagnosed endometriosis could prevent this severe complication.

Cesarean scar pregnancy.

OBJECTIVE: To summarize the current knowledge on pregnancy in a cesarean scar. METHODOLOGY: A literature review on the topic using the PubMed database. RESULTS: Gravidity in a cesarean scar is a relatively new type of ectopic pregnancy that will be an increasingly common problem in an era of increasing cesarean section rates. It is still a relatively rare event, occurring in about 6% of the population. Diagnosis is based primarily on ultrasound examination and is essential early on in pregnancy. The pathogenesis of the disease is due to a disorder of the basal layer of the endometrium and can lead to conditions that we refer to as placenta accreta spectrum. The management is completely individualized and depends on hCG values, ultrasound findings, fetal viability, the wishes of the pregnant woman and the experience of the gynecologist concerned. CONCLUSION: This is still a rare occurrence of ectopic pregnancy but with increasing potential. The solution is completely individualized based on a precise and early ultrasound diagnosis.

Peripartum rupture of renal artery aneurysm - case report.

We present a case of silent rupture of the renal artery aneurysm in a pregnant woman brought to the maternity hospital in shock. Renal artery aneurysms (RAA) are rare and account for 0.01-0.5% of all aneurysms with an incidence of approximately 0.09%. Rupture of the renal artery aneurysm is a rare and severe complication associated with extremely high morbidity and mortality in both mother and fetus. Thanks to the improvement and effectiveness of medical care in the 21st century, fetal mortality decreased by 70-80%, and 60-70 % for the mother. The essence of a successful management of this serious, life-threatening condition is a close cooperation between obstetricians, midwives, anesthesiologists, general surgeons, and vascular surgeons.

Women with incorrect pelvic floor statics: a biomechanical answer to the mechanical loading of the vagina-endopelvic fascia complex.

OBJECTIVE: This work focuses on finding method for detecting the elementary mechanical characteristics of the vagina-endopelvic fascia complex, aimed at providing results for use in optimizing solutions for stability defects of the pelvic floor. MATERIALS AND METHODS: Two experiments have already been carried out that have enabled monitoring of the reaction of tissue complex samples to a selected load. The elastic properties of samples under a simple pull load were evaluated. The monitored property in the first experiment was the maximum reference tension at the moment of rupture of the sample in relation to the non-deformed section. We evaluated data from measurements on 11 samples within the scope of the first experiment. For data processing from the second experiment we used a linear-elastic model of the sample, formed by parallel connection of basic mechanical elements - springs - that represented the endopelvic fascia and the vaginal wall. The relevant rigidities were used for a description of their properties. Five samples were used for this experiment. RESULTS: An important discovery was that the endopelvic fascia tears apart after a longer period of time than the vaginal wall during the pull test. The results show considerable variability among individuals, but the pattern of curves is similar in all test cases. In all measured data we found a rigidity increase zone, a maximum rigidity zone and a gradual rigidity decrease zone before terminal damage in the response. CONCLUSIONS: The results presented here show quite broad interindividual variability of the mechanical properties of the vaginal wall-endopelvic fascia complex. It appears that the mechanical properties of the tissue complex change with number of pregnancies, and are affected by diseases, by physical load or by the presence of other factors, e.g. obesity.