18 research outputs found

    Interpretation of false positive results of biochemical prenatal tests

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    Summary Modern, non-invasive prenatal diagnostics based on biochemical and ultrasonographic markers of fetal defects allows us to calculate the risk of fetal chromosomal aneuploidies with high sensitivity and specificity. An introduction of biochemical, non-invasive prenatal tests turned out to result in frequent false positive results of these tests in cases when invasive diagnostics does not confirm fetal defects. However, prospective analysis of these cases showed numerous complications in the third trimester of the pregnancies

    Biochemical prenatal tests and uterine artery Doppler examination in prediction of PIH and IUGR in the third trimester of pregnancy

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    Summary Objectives: PIH and IUGR are serious complications in the third trimester of pregnancy. Many publications claim a connection between false positive prenatal tests and subsequent occurrence of PIH and IUGR. Design: The aim of the study was to estimate the usefulness of the biochemical markers of fetal defects and uterine Doppler examination in predicting PIH and IUGR in the third trimester of pregnancy. Methods: We examined 156 pregnant patients in The Department of the Fetal Medicine and Gynecology, Medical University of Lodz, between 2006-2009. In case of each pregnant woman we estimated biochemical markers in the first (PAPP-A + β-hCG) and second trimester (AFP, β-hCG, uE3- triple test). Each patient underwent three ultrasonographic examinations in the first, second and third trimester (between 11-13, 15-20, and 22-27 weeks gestation, respectively) with uterine artery Doppler examination. We monitored these pregnancies for PIH and IUGR and divided them into three groups: 28 patients with PIH (study group 1), 14 patients with IUGR (study group 2), and 114 patients with uncomplicated pregnancies (controls). Results: In both study groups we observed: higher concentration of β-hCG, higher percentage of the positive biochemical prenatal tests and abnormal uterine artery Doppler waveform. Positive triple test was the strongest predictor of PIH and IUGR (PPV=60.87% for PIH and PPV = 30.77% for IUGR). Conclusions: Biochemical markers and abnormal uterine artery Doppler waveform are associated with PIH and IUGR. These parameters can be the base for the test identifying pregnant patients with high risk of PIH and IUGR

    Abnormal second trimester screening for fetal chromosomal abnormalities as a predictor of adverse pregnancy outcome

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    Second-trimester maternal serum markers (triple test) is common used to estimate of the fetal risk of genetic abnormalities and open neural tube defects. Positive results of the triple test concomitant with the normal fetus kariotype pattern can also predict the adverse pregnancy outcome. Many authors have been indicated such false positive results of the triple test in the cases of the uterine myomas, PIH, IUGR, and IUD. Objective: The purpose of this study was to determine the association between abnormal second trimester Down syndrome screening markers and adverse pregnancy outcome. Material and Methods: A total of 775 pregnant women underwent maternal serum screening. Pregnancy complications were studied in the groups of pregnancies with structurally and chromosomally normal fetuses – with: elevated AFP>1,89MoM, elevated β-hCG>1,69MoM or low β-hCG1,89MoM were found to be significantly associated with IUGR, PIH and placental pathology. Increased β-hCG>1,69MoM were significantly associated with PIH and IUGR. Finally decreased β-hC

    The role of fetal nuchal translucency (NT) and ductus venosus blood flow (DV) in the detection of congenital heart defects

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    Summary Cardiac defects, the most common forms of congenital defects, are found in 3-8 of every 1000 pregnancies. Currently only 15-30% of CHD in newborns is detected prenatally. There are different strategies to increase the prenatal detection of cardiac abnormalities. Nuchal translucency screening and ductus venosus blood flow have been suggested to be useful methods of identifying cardiac anomalies in chromosomally normal fetuses. Objective: To examine the association between nuchal translucency thickness and ductus venosus blood flow between 11-13.6 week of pregnancy and CHD in chromosomally normal fetuses. Material and methods: Patients with singleton pregnancies at 11 to 13.6 weeks of gestation were recruited to undergo nuchal translucency sonography. The prevalence of major cardiac defects was determined and the utility of screening for nuchal translucency thickness including sensitivity, specificity, and positive and negative predictive values, were calculated for the NT thickness cut off points of the 95th and 99th centile for CRL. Ductus venosus Doppler ultrasound blood flow velocity waveforms were obtained at 10-13.6 weeks gestation. Results: 4720 gestations were analyzed, of which 13 newborn infants had CHD. The incidence of major CHD increased with increasing NT. Sensitivity, specificity, and positive predictive values were 45.4%, 92% and 1.5% at 99.8th percentile, and 25%, 98.5%, 3.2% and 99.8% at 99th percentile. Reverse or absent flow during atrial contraction was observed in 8 out of the 13 (61.5%) chromosomally normal fetuses with CHD. Conclusion: Measurement of fetal nuchal translucency thickness and ductus venosus blood flow at 11-13.6 weeks of pregnancy is a sensitive method of screening for CHD. The prevalence of CHD increases with increasing fetal NT and abnormal ductus venosus blood flow. Increased NT or abnormal ductus venosus blood flow is a strong indication for fetal echocardiograph

    Nasal bone (NB) length measurement in the first trimester of pregnancy in Polish population and its validity as fetal aneuploidy indicator

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    Objectives: Dynamic development of prenatal diagnostics is mostly directed towards search for non-invasive screening. The main role of the screening methods is to select high-risk fetal aneuploidy group of pregnant women. The base for the prenatal screening in modern obstetrics is ultrasound scanning. Design: The aim of the study was to estimate typical value range for the fetal nasal bone length measurement (NB) between 11th and 20th week of pregnancy, in Polish population. The second aim was to assess the value of the parameter as an aneuploidy marker. Materials and methods: The study was conducted between 1999-2006, in the 1st Division of Obstetrics and Gynaecology, Medical University in ¸ode. The investigated population comprised 2960 pregnant women. 53 cases of the fetal chromosomal aneuploidies were diagnosed. Results: Typical values for the nasal bone measurement were estimated. The investigations showed that until 13th gestation week, visualization of the presence or absence of the nasal bone on the ultrasound scan is a better marker for fetal aneuploidy diagnosis than the measurement. However, since the 14th week, it is the measurement that becomes the most adequate method of the fetal nasal bone assessment. Conclusions: 1. We estimated the normal value range for the fetal nasal bone length measurement (NB) between 11 and 20 weeks of pregnancy. 2. The nasal bone length is an useful marker for the fetal aneuploidy. 3. The predictive value of the method suggests the visualization of the nasal bone presence in the 1st trimester of the pregnancy as a screening method. The measurement of the NB proves to be a useful method in the prenatal diagnostic in the 2nd trimester of the pregnancy

    Thrombotic thrombocytopenic purpura in pregnancy. A case report

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    Abstract Thrombotic thrombocytopenic purpura (TTP) is characterized by microangiopathic hemolytic anemia and thrombocytopenia, accompanied by microvascular thrombosis that causes variable degrees of tissue ischemia and infarction. About 10-20% of TTP cases are associated with the pregnancy. Preterm delivery and intrauterine fetal death are frequent pregnancy complications of TTP. The following paper presents the case of a 32-year-old woman with TTP relapse at 10 weeks of her second pregnancy. Despite regular fresh frozen plasma transfusions, intrauterine fetal death occurred at 21 weeks of gestation. Current views on TTP management during pregnancy have been presented in the article as well

    Noninvasive prenatal test in the first trimester of pregnancy (NT and estimation of β-hCG and PAPP-A) in the diagnosis of fetal abnormalities in Polish population – comparison of the biochemistry own normal ranges and literature reported data

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    Abstract The aim of study: Estimation of Polish population standards of the concentrations of pregnancy-associated plasma protein - A (PAPP-A) and free beta - human chorionic gonadotropin (β-HCG) in the maternal blood between 10.0 and 13.6 week of pregnancy and comparison of the biochemistry own normal ranges and literature reported data. Estimation the sensitivity of the fetal nuchal translucency measurement, biochemical concentrations of PAPP-A and free β-HCG in detection of the fetal chromosomal abnormalities. Material and methods: 582 women in the age 14 to 46 years old with singleton pregnancies were included to the study. The screening was performed between 10.0 and 13.6 week of gestation. The fetal nuchal translucency, serum concentrations of PAPP-A and free β-HCG were measured. The specific risk was calculated using the Fetal Medicine Foundation software (FTS) by accredited sonographers. Results: Standards for serum concentrations of PAPP-A and free β-HCG in normal pregnancies were determined. The measurement sensitivity of the fetal nuchal translucency in detection of the fetal chromosomal abnormalities was 80% and sensitivity of serum concentrations of PAPP-A and free β-HCG was 40% and 80%. Conclusions: There is no significant differences between estimated biochemistry standards (PAPP-A and free β-HCG) for Polish population and literature reported data. Observed differences in measurements of fetal NT, serum concentrations of PAPP-A and free β-HCG in a control group and the group with the aneuploidies confirmed usefulness of these methods for the first trimester prenatal screening

    Connection between uterine myomas and biochemical screening results in the first and second trimester of pregnancy

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    Abstract Objectives: Uterine myomas may change the concentrations of the screening serum markers and therefore alter the risk calculation of the fetal chromosomal abnormalities. An increased risk leads to invasive diagnostics procedures which in these cases can often be technically difficult due to the presence of myomas. Aim: The aim of this study was to assess the influence of uterine myomas on the first and second trimester serum markers concentrations and, possibly, on the test results. Material and methods: The study group consisted of 127 women between 11 and 20 weeks of normal singleton pregnancy. In each case uterine myomas were diagnosed – over 20 mm in the diameter and located in the uterine wall. 77 patients underwent the first trimester screening (PAPP-A & free β-hCG) and 50 patients had the second trimester screening (triple test). The control group consisted of 1020 women between 11 and 20 weeks of normal singleton pregnancy without uterine myomas. Delfia Xpress analyser was used for the serum markers estimations. All pregnant women delivered normal healthy babies. Results: In the first trimester group the PAPP-A serum concentrations were not different from the controls while the mean median concentration of free β-hCG were significant higher – 1.43 MoM. In the second trimester group the following mean median values were observed: no significance for the AFP – 1.18 MoM and estriol – 1.29 MoM and significantly higher mean median value for the free β-hCG – 2.01 MoM. Conclusions: 1. The presence of the uterine myomas is connected with the increased maternal serum concentration of the β-hCG, particularly in the second trimester. 2. The uterine myomas may lead to the increased rate of the false positive results of the prenatal screening test, especially the triple test

    Sense of happiness in Polish patients with multiple sclerosis

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    Introduction. Happiness is crucial to patient well-being and their acceptance of their disease. The aim of this study was to assess the sense of happiness in persons with multiple sclerosis (PwMS), compare it to the level of happiness in patients with other neurological conditions, and determine which factors affect the sense of happiness in PwMS. Material and methods. Five hundred and eighty-nine PwMS and 145 control subjects (post-stroke patients with chronic pain syndromes and neuropathies) were included in the study. Due to the differences between the groups in terms of demographic variables, an adjusted group of PwMS (n = 145) was selected from the entire group of PwMS. All patients were assessed using the Oxford Happiness Questionnaire (OHQ), the Satisfaction with Life Scale (SLS), and the Family APGAR Questionnaire. Based on regression analysis, the study examined which variables affected the level of happiness in the groups. Results. Analysis of the OHQ scores showed that PwMS had a lower sense of happiness compared to the control group in the overall score [113.21 (25–42) vs. 119.88 (25–49), respectively; p = 0.031] and the subscales (OHQ subscale 1 — 54.52 vs. 57.84, respectively; p = 0.027; subscale 2 — 35.61 vs. 37.67; respectively; p = 0.044). Based on linear regression analysis, life satisfaction (β = 0.40; p < 0.001), positive orientation (β = 0.32; p < 0.001), and primary education (β = 0.08; p = 0.009) were the most significant predictors of a higher level of happiness in PwMS. Similar results were found in the control group. Conclusions. The sense of happiness in PwMS was lower than in patients with other conditions. The most important factors influencing happiness included life satisfaction and positive orientation. Influencing these predictors should be the aim of psychological interventions, especially in patients with a reduced sense of happiness

    Clinical course and outcome of SARS-CoV-2 infection in multiple sclerosis patients treated with disease-modifying therapies — the Polish experience

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    Introduction. The aim of this study was to report the course and outcome of SARS-CoV-2 infection in multiple sclerosis (MS) patients treated with disease-modifying therapies (DMTs) in Poland. A major concern for neurologists worldwide is the course and outcome of SARS-CoV-2 infection in patients with MS treated with different DMTs. Although initial studies do not suggest an unfavourable course of infection in this group of patients, the data is limited.Materials and methods. This study included 396 MS patients treated with DMTs and confirmed SARS-CoV-2 infection from 28 Polish MS centres. Information concerning patient demographics, comorbidities, clinical course of MS, current DMT use, as well as symptoms of SARS-CoV-2 infection, need for pharmacotherapy, oxygen therapy, and/or hospitalisation, and short-term outcomes was collected up to 30 January 2021. Additional data about COVID-19 cases in the general population in Poland was obtained from official reports of the Polish Ministry of Health.Results. There were 114 males (28.8%) and 282 females (71.2%). The median age was 39 years (IQR 13). The great majority of patients with MS exhibited relapsing-remitting course (372 patients; 93.9%). The median EDSS was 2 (SD 1.38), and the mean disease duration was 8.95 (IQR 8) years. Most of the MS patients were treated with dimethyl fumarate (164; 41.41%). Other DMTs were less frequently used: interferon beta (82; 20.70%), glatiramer acetate (42; 10.60%), natalizumab (35;8.84%), teriflunomide (25; 6.31%), ocrelizumab (20; 5.05%), fingolimod (16; 4.04), cladribine (5; 1.26%), mitoxantrone (3; 0.76%), ozanimod (3; 0.76%), and alemtuzumab (1; 0.25%). The overall hospitalisation rate due to COVID-19 in the cohort was 6.81% (27 patients). Only one patient (0.3%) died due to SARS-CoV-2 infection, and three (0.76%) patients were treated with mechanical ventilation; 106 (26.8%) patients had at least one comorbid condition. There were no significant differences in the severity of SARS-CoV-2 infection regarding patient age, duration of the disease, degree of disability (EDSS), lymphocyte count, or type of DMT used.Conclusions and clinical implications. Most MS patients included in this study had a favourable course of SARS-CoV-2 infection. The hospitalisation rate and the mortality rate were not higher in the MS cohort compared to the general Polish population. Continued multicentre data collection is needed to increase the understanding of SARS-CoV-2 infection impact on the course of MS in patients treated with DMTs
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