Objective: The aim of the study was to analyze the results of the screening for congenital defects (CD) and genetic diseases (GD) of the fetus in the Fetal Medicine Centre at the Department of Obstetrics and Gynecology, University Hospital in Olomouc. Materials and methods: Prospective cohort study. In the period from 1 January 2020 to 31 December 2021, a total of 14,460 health services were performed on 4,916 pregnant women. Within the screening of CD and GD of the fetus, 501 pregnant women were found to have an abnormality requiring further clinical management, 170 of them were diagnosed with a CD of the fetus and in 20 cases a GD of the fetus was diagnosed by a laboratory genetic examination. All diagnosed fetal CD and GD were sent/ reported according to the valid methodology of the National health information system (NHIS) to the National register of reproductive health (NRRH) to the CD Module. Results: An increased calculated individual risk of genetic fetal disease was diagnosed in the first trimester of pregnancy in 10.7% of fetuses (319/ 2,968), and in the second trimester in 0.9% of fetuses (27/ 2,948). Nuchal translucency (NT) > 3.5 mm was diagnosed in 0.9% of fetuses by ultrasound examination in the first trimester of pregnancy (26/ 2,968). In fetal CD and GD screening, 501 pregnant women were found to have an abnormality requiring further clinical management, 72.1% of women (361/ 501) had an increased risk of genetic fetal disease, and diagnostic examination of the fetal genetic material obtained by invasive procedure (chorionic villus sampling or amniocentesis) was indicated. A total of 31.3% of them (113/ 361) refused the invasive procedure and 2.5% (9/ 361) did not attend the planned procedure; the invasive procedure was performed in 66.2% (239/ 361). Conclusion: Comparing the results of CD and GD fetal screening in our medical facility with other specialized medical facilities in the Czech Republic is currently difficult to do, but information from the NRRH could allow objective and transparent comparisons in the future. Key words: congenital defect – genetic disease – fetus – national registry
Background. The majority of fetal structural defects can be detected in the second trimester, thus this is the main time for screening for structural defects. 3D imaging of the fetal brain does not create a common part of this screening. Methods. This prospective observational study was conducted at the Fetal Medicine Center of The Gynecological-Obstetrical Department of the University Hospital Olomouc in years 2017-2020. The study sample was 451 consecutively scanned morphologically normal fetuses attending for routine second trimester anatomical survey at 20-22 weeks of pregnancy. A transabdominal 3D ultrasound volume acquisition of fetal brain was obtained from an axial and sagittal plane using skull sutures as an acoustic window. Results. Both the corpus callosum (CC) and the vermis (VC) were detected in 51.7% of examinations in the sagittal plane, and in 31.7% in the axial plane. In 61.9% of the examinations, there was at least partial detection in both planes. Maternal BMI was found to be the only significant predictor of the quality of imaging in both planes. Conclusion. 3D acquisition of fetal brain images in the sagittal plane followed by manipulation of acquired volume was valuable in assessment of corpus callosum and cerebellar vermis. This allows reconstruction of the sagittal plane that can be difficult to obtain in 2D imaging.
Electronic poster abstractsrelation to IO and position of centre of GS relative to midpoint axis of uterus had the highest diagnostic value. EP24.07Medical termination of pregnancy up until the 7th week of gestation in the Czech Republic: the role of ultrasound in diagnosis and follow-up P. Strasilova, M. Tozzi, V. Durdova, T. Kratochvilova, E. Hostinska, M. Lubusky Obstetrics and Gynecology, Palacky University Hospital, Olomouc, Czech RepublicObjectives: According to SmPC (Summary of Product Characteristic) and Czech National Guidelines (Recommendation of National OB/GYN Society), medical termination of pregnancy (MToP) in the 1st trimester can be carried out solely based on the woman's request up until the 7th week of gestation if the pregnancy is confirmed by ultrasound as an intrauterine singleton prosperous pregnancy, between day 42 and 49 of gestation, Crown-rump length (CRL) 2-9 mm. In addition, only ultrasound is able to diagnose ongoing pregnancy or missed abortion in MToP follow up. Methods: Prospective cohort study. In the years 2015-2016, a total of 194 pregnant women came to our medical facility and requested MToP, the women were 16-44 years of age (average 29.6, median 29), the diagnosis of intrauterine singleton prosperous pregnancy was set by transvaginal ultrasound, gestational age was 42-49 days (average 6.0, median 5). MToP was carried out by combination of mifepriston (600 mg orally) and misoprostol (400 mcg orally) within 48 hours. Follow up (verification of successful MToP) after 2-3 weeks was evaluated by transvaginal ultrasound as well. Results: In 11 women (5.7%) who requested MToP, an unprosperous pregnancy or CRL >9 mm was diagnosed, in the remaining 183 women MToP was carried out, but in 55 cases (30.1%) at least one additional Pre-First visit was needed before the diagnosis of intrauterine singleton prosperous pregnancy CRL 2-9 mm could be established, in 4 cases (2.2%) two Pre-First visits and in 1 case (0.5%) even three. In 16 women (8.7%) MToP follow up was missed and of the remaining 167 women, complete abortion (success) was diagnosed in 94.6% (158/167), incomplete abortion in 0.6% (1/167), missed abortion in 1.2% (2/167) and ongoing pregnancy (failure) in 3.6% (6/167). Conclusions: The role of ultrasound in the diagnosis of intrauterine singleton prosperous pregnancy is crucial and even MToP follow up cannot be fully replaced by assessment of hCG levels in serum or urine. SMI significantly reduces motion artefacts and can visualise low-velocity blood flow in small vessels. At 6 weeks' gestation from last menstrual period, ultrasonography showed an echoic cystic lesion in the uterine cervical mucosa without embryo instead of gestational sac in the uterine endometrium, therefore diagnosis of uterine cervical pregnancy was made. Power Doppler could not detect any blood flows around the cystic lesion, but SMI shows small vessels branched uterine artery via decidua (figures a and c). On the 7th day after administration of systemic MTX, reduced blood flow around gestational sac in th...
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