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.

Registration of a pregnant woman in the maternity hospital (optimally at 36th-37th weeks) at the Olomouc University Hospital in 2022.

OBJECTIVE: The aim of the study was to analyse the results of the implementation of the new health service Registration of a pregnant woman in the maternity hospital (optimally at 36th-37th weeks) provided as part of outpatient/ambulatory health care at Olomouc University Hospital (OUH). MATERIALS AND METHODS: A prospective cohort study. In 2022, a total of 2,271 women gave birth in OUH, and 2,010 of them were Registered in the maternity hospital, defined specific risks were identified and a pregnancy termination strategy was established/determined. RESULTS: The health service was provided to 88.5% of women giving birth (2,010/2,271). The age of the mothers was 15-56 years (mean 31.3 years; median 31 years), their body mass index was 13.4-53.1 kg/m2 (mean 24.6 kg/m2; median 23.2 kg/m2). 43.6% of them (877/2,010) were Low-risk pregnancies and 56.4% (1,133/2,010) were Pregnancies with a defined specific risk. The most frequently identified risks were as follows: RhD negative blood group (18.4%), diabetes mellitus (13.9%), history of caesarean section (12.0%), hypertensive disorders (6.5%), small fetus/fetal growth restriction (6.3%), risk the development of hemolytic disease in the fetus and the newborn (2.5%), multiple pregnancy (1.6%), congenital malformation of the fetus (1.3%) and placentation disorders (0.5%). In 63.4% of them (1,275/2,010), the pregnancy termination strategy was determined by spontaneous vaginal delivery, in 18.0% (361/2,010) by pre-induction of vaginal delivery and in 14.2% (285/2,010) by caesarean section. In 4.4% (89/2,010) the health service was not implemented correctly because no strategy was established. CONCLUSION: The implementation of the new health service will make it possible to replace activity (more frequent antenatal care contacts/visits and routine antenatal cardiotocography) with efficiency (risk identification, determination of the optimal strategy for outpatient/ambulatory antenatal care and timing and mode of delivery) and thereby provide better and safer health care (from a medical, organizational, legislative and economic points of view).

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.

Ehlers-Danlos syndrome is in a group of connective tissue disorders that can result in a range of complications during pregnancy. Clinical manifestations include skin hyperextensibility, atrophic scarring, poor wound healing, hyperflexibility or higher risk of organ ruptures (uterine rupture, aortal dissection). The combination of Ehlers-Danlos syndrome and osteogenesis imperfecta is very rare (< 1/1,000,000 according to Orphanet). We are presenting a case of woman with osteogenesis imperfecta/Ehlers-Danlos overlap syndrome and her pregnancy complicated by aortal dilatation. Our case has attempted to highlight the potential obstetric complications and to attract the attention of clinical physicians to the rare but extremely dangerous syndrome.

Comparison of dinoprostone, misoprostol and amniotomy in labor induction.

OBJECTIVE: Comparison of dinoprostone, misoprostol and amniotomy in labor induction. METHODS: The study group included a total of 437 women who underwent consecutive induction of labor after evaluation of the indication and Bishops score. The most common indications were: postmaturity, hypertensive disease, diabetes mellitus and fetal growth restriction. In 327 cases we chose to induce labor using vaginal tablets of dinoprostone at a dose of 0.75mg, in 36 cases dinoprostone at a dose of 3mg, in 16 cases we used a vaginal insert of misoprostol (200 µg), and in 58 cases amniotomy was performed. RESULTS: In the subgroup of dinoprostone (0.75mg) the rate of vaginal delivery (including extraction delivery) was 90.2%, in the subgroup of dinoprostone (3mg) it was 91.6%, in the subgroup of misoprostol it was 100% and in the subgroup of amniotomy it was 93.1%. The time period between onset of labor induction and delivery was an average of 15.75 hours in the dinoprostone (0.75mg) subgroup, 21.41 hours in the dinoprostone (3mg) subgroup, 17.41 hours in the misoprostol subgroup and 7.49 hours in the amniotomy subgroup. CONCLUSION: Subgroup of patients with misoprostol showed the highest rate of vaginal delivery after labor induction. In the subgroup with amniotomy, the shortest time period between onset of induction and delivery was reached.