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).

Clinical Potential of Effective Noninvasive Exclusion of KEL1-Positive Fetuses in KEL1-Negative Pregnant Women.

BACKGROUND: The clinical importance of assessing the fetal KEL genotype is to exclude 'K'-positive fetuses (genotype KEL1/KEL2) in 'K'-alloimmunized pregnant women (genotype KEL2/KEL2). Noninvasive assessment of the fetal KEL genotype is not yet available in the Czech Republic. OBJECTIVE: The aim of this study was to assess the fetal KEL1/KEL2 genotype from cell-free fetal DNA in the plasma of KEL2/KEL2 pregnant women. METHODS: The fetal genotype was assessed by minisequencing (a dilution series including control samples). A total of 138 pregnant women (between the 8th and 23rd gestational week) were tested by minisequencing. The fetal genotype was further verified by analysis of a buccal swab from the newborn. RESULTS: Minisequencing proved to be a reliable method. In 2.2% (3/138) of the examined women, plasma sample testing failed; 94.8% (128/135) had the KEL2/KEL2 genotype, and a total of 3.1% of fetuses (4/128) had the KEL1/KEL2 genotype. Sensitivity and specificity reached 100% (p < 0.0001). CONCLUSION: Minisequencing is a reliable method for the assessment of the fetal KEL1 allele from the plasma of KEL2/KEL2 pregnant women.

Two Reliable Methodical Approaches for Non-Invasive RHD Genotyping of a Fetus from Maternal Plasma.

Noninvasive fetal RHD genotyping is an important tool for predicting RhD incompatibility between a pregnant woman and a fetus. This study aimed to assess a methodological approach other than the commonly used one for noninvasive fetal RHD genotyping on a representative set of RhD-negative pregnant women. The methodology must be accurate, reliable, and broadly available for implementation into routine clinical practice. A total of 337 RhD-negative pregnant women from the Czech Republic region were tested in this study. The fetal RHD genotype was assessed using two methods: real-time PCR and endpoint quantitative fluorescent (QF) PCR. We used exon-7-specific primers from the RHD gene, along with internal controls. Plasma samples were analyzed and measured in four/two parallel reactions to determine the accuracy of the RHD genotyping. The RHD genotype was verified using DNA analysis from a newborn buccal swab. Both methods showed an excellent ability to predict the RHD genotype. Real-time PCR achieved its greatest accuracy of 98.6% (97.1% sensitivity and 100% specificity (95% CI)) if all four PCRs were positive/negative. The QF PCR method also achieved its greatest accuracy of 99.4% (100% sensitivity and 98.6% specificity (95% CI)) if all the measurements were positive/negative. Both real-time PCR and QF PCR were reliable methods for precisely assessing the fetal RHD allele from the plasma of RhD-negative pregnant women.

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

BACKGROUND: Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/retrognathia. The reports of the microdeletion 14q22q23 detected in the prenatal stages are limited and the range of clinical features reveals a quite high variability. CASE PRESENTATION: We report a detection of the microdeletion 14q22.1q23.1 spanning 7,7 Mb and involving the genes BMP4 and OTX2 in the foetus by multiplex ligation-dependent probe amplification (MLPA) and verified by microarray subsequently. The pregnancy was referred to the genetic counselling for abnormal facial profile observed in the first trimester ultrasound scan and micrognathia (suspicion of Pierre Robin sequence), hypoplasia nasal bone and polydactyly in the second trimester ultrasound scan. The pregnancy was terminated on request of the parents. CONCLUSION: An abnormal facial profile detected on prenatal scan can provide a clue to the presence of rare chromosomal abnormalities in the first trimester of pregnancy despite the normal result of the first trimester screening test. The patients should be provided with genetic counselling. Usage of quick and sensitive methods (MLPA, microarray) is preferable for discovering a causal aberration because some of the CNVs cannot be detected with conventional karyotyping in these cases. To the best of our knowledge, this is the earliest detection of this microdeletion (occurred de novo), the first case detected by MLPA and confirmed by microarray. Literature review of the genotype-phenotype correlation in similar reports leads us to the conclusion that dosage imbalance of the chromosomal segment 14q22q23 (especially haploinsuffiency of the genes BMP4 and OTX2) contributes significantly to orofacial abnormalities. Association of the region with the Pierre Robin sequence appears to be plausible.