Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis-Analysis of noninvasive and invasive test results.

Objective: Tetrasomy 9p and trisomy 9p are rare chromosomal aberrations. The phenotypes of tetrasomy 9p and trisomy 9p are variable. Most cases are diagnosed in the postnatal period. The study aims to analyze the prenatal phenotype of tetrasomy 9p and trisomy 9p in terms of ultrasound and screening tests. Methods: A set of 1573 prenatal tests performed from 2016 to 2021 was reviewed to identify all cases with trisomy 9p and tetrasomy 9p. In four cases with 9p gain, non-invasive and invasive test results were analyzed. Results: Four cases with the 9p gain were diagnosed in the prenatal period: two cases with tetrasomy 9p and two cases with trisomy 9p. Nasal bone hypoplasia and ventriculomegaly are common features of 9p gain. In two out of four cases with the 9p gain, an increased risk of trisomy 21 was found in the combined first-trimester screening test. Conclusion: Trisomy 9p and tetrasomy 9p are characterized by a variable phenotype in the prenatal period, manifesting in genetically abnormal fetuses. The tetrasomy 9p and trisomy 9p may suggest trisomy 21 in the first trimester.

Prenatal Sonographic Features of Rare Chromosome 13 Aberrations.

Objective: Trisomy 13 is one of the most common chromosome aberrations diagnosed in the prenatal period, and is associated with some specific dysmorphic features. Rare chromosome 13 aberrations other than trisomy 13 may cause other fetal abnormalities. The aim of the study was to analyze cases with those rare chromosome 13 aberrations. Methods: We analyzed all prenatal tests performed in the Department of Clinical Genetics of the Medical University of Lodz from 2016 to 2021 to find all chromosome 13 aberrations. Results: The most common aberration of chromosome 13 was a simple trisomy 13 (n = 16). We found five rare chromosome 13 aberrations other than simple chromosome 13 trisomy: mosaic trisomy 13 mos 47,XX,+13[11]/46,XX[10], mosaic monosomy 13 mos 46,XY,-13,+mar[9]/46,XY[31], duplication 13q21.1-q31, deletion 13q34 and deletion 13q31.1-q34. The deletion 13q31.1-q34 occurred in monochorionic diamniotic twin pregnancy. Conclusion: Rare aberrations accounted for 24% of all chromosome 13 aberrations. Cases with mosaic monosomy of chromosome 13 and microdeletion 13q had similar abnormalities of the external genitalia and facial dysmorphia. The case with duplication 13q was very similar to the clinical features of chromosome 13 trisomy. Mosaic trisomy 13 can occur without any accompanying anatomical defects.

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes.

Nasal bone hypoplasia is associated with a trisomy of chromosome 21, 18 or 13. Nasal bone hypoplasia can also be seen in other, rarer genetic syndromes. The aim of the study was to evaluate the potential of nasal bone hypoplasia, in the second trimester of pregnancy, as a marker of fetal facial dysmorphism, associated with pathogenic copy number variation (CNV). This retrospective analysis of the invasive tests results in fetuses with nasal bone hypoplasia, after excluding those with trisomy 21, 18 and 13. In total, 60 cases with nasal bone hypoplasia were analyzed. Chromosomal aberrations were found in 7.1% of cases of isolated nasal bone hypoplasia, and in 57% of cases of nasal bone hypoplasia with additional malformations. Additionally, in four of nine cases with non-isolated nasal bone hypoplasia but normal CMA results, a monogenic disease was diagnosed. Non-isolated hypoplastic nasal bone appears to be an effective objective marker of fetal facial dysmorphism, associated with pathogenic CNVs or monogenic diseases. In isolated cases, chromosomal microarray testing can be of additional value if invasive testing is performed, e.g., for aneuploidy testing after appropriate counseling.

Costs of the use of carbetocin in the prevention of uterine atony following delivery of the infant by Caesarean section - retrospective multicenter study.

OBJECTIVES: The aim of this study was to compare the costs of using carbetocin in the prevention of uterine atony following delivery of the infant by Cesarean section (C-section) under epidural or spinal anesthesia with standard methods of prevention (SMP). MATERIAL AND METHODS: This retrospective multicenter study was based on data from three medical centers. A questionnaire was developed to gather patient records on consumption and costs of resources related to C-section, prevention of uterine atony and postpartum hemorrhage (PPH) treatment. Six subpopulations were considered, depending on patient characteristics. The analysis covered two perspectives: that of the hospital and of the public payer. RESULTS: The subpopulations were homogenous, which was a premise for pooling the data. The use of carbetocin in the prevention of uterine atony following Cesarean section generates savings for hospital in comparison with SMP (oxytocin) in 5 of 6 subpopulations. The biggest savings were observed amongst patients who experienced severe PPH and reached 2.6-6.2 thousand PLN per patient. Costs of services related to C-section borne by the hospitals were higher than the refund received from a public payer. The greatest underestimation reached 12.1 thousand PLN per patient. Nevertheless, loss generated by this underfunding was lower in carbetocin versus oxytocin group. CONCLUSIONS: The use of carbetocin instead of SMP gives hospitals an opportunity to make savings as well as to reduce losses resulting from the underfunding of the services provided by the National Health Fund.

[Evaluation of carbetocin (pabal) efficacy in the prevention of the postpartum hemorrhage in women after cesarean section--preliminary report]. / Ocena skutecznosci stosowania karbetocyny w profilaktyce krwawien poporodowych u kobiet po cieciu cesarskim--doniesienie wstepne.

OBJECTIVES: The aim of this study was to evaluate the efficacy of carbetocin in prevention of PPH in women after cesarean section. MATERIAL AND METHODS: We enrolled 60 patients who had undergone cesarean section in tertiary referential center, Department of Perinatology, Medical University of Lodz, Poland, between January and June 2008. Each patient obtained a single 100 microg dose of carbetocin intravenously during cesarean section, immediately after the delivery of the baby and prior to the delivery of the placenta. We evaluated postoperative blood parameters in 2 and 12 hours after the operation, the proportion of patients requiring additional uterotonic agents and adverse events in the whole population and in the group of women with high risk of PPH. RESULTS: 58.1% of patients underwent emergency and 41.3% elective cesarean section delivery. The risk factor of PPH was identified in 38 women (63.3%). The results of this study indicate that carbetocin produces rapid and long-lasting uterine tone. A small drop in mean hemoglobin and hematocrit levels 2 and 12 hours after the operation was observed. 15% of patients required the use of additional uterotonic agents. In the group of women with high risk of PPH, carbetocin appeared to be effective in 79% of the patients. Only 11.4% of patients had minor adverse events. CONCLUSIONS: Carbetocin appears to be an effective new drug in the prevention of postpartum hemorrhage, not only among women undergoing cesarean section but also in the group of women with PPH risk factors.