scholarly journals Cohort profile: targeted antenatal screening for haemoglobinopathies in Basel

BMJ Open ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. e035735
Author(s):  
Gabriela Amstad Bencaiova ◽  
Franziska Geissler ◽  
Irene Hoesli

PurposeThe pregnancy cohort was established to examine the prevalence and variety of haemoglobinopathies in a high-risk group of pregnant women.ParticipantsThe pregnancy cohort is located in the Department of Obstetrics and Antenatal Care, University Hospital of Basel. The pregnant women were recruited in the first trimester between June 2015 and May 2019. Family origin questionnaires were used to screen pregnant women for the risk of a haemoglobin variant. Based on the questionnaire, pregnant women were divided into two groups: women with a high risk and women with a low risk of a haemoglobin variant. In women with a high risk, red blood cell indices, iron status and chromatography were conducted.Findings to date1785 pregnant women were recruited. Out of the 1785 women, 929 were identified as a part of the high-risk group. Due to the missing data of 74 pregnant women with a high risk, the final analysis was conducted in the remaining 855 women. The prevalence of haemoglobinopathies in the high-risk group was 14.5% (124/855).Future plansThis cohort will be used to: (1) implement the screening in prenatal care in Basel; (2) recommend the screening among pregnant women with a high risk of a haemoglobin variant in Switzerland; (3) improve prenatal and neonatal care in patients with a haemoglobin variant; (4) examine adverse pregnancy outcomes in women with a haemoglobin variant and (5) reduce maternal and neonatal morbidity and mortality in the future.Trial registration numberClinicalTrials.gov Registry (NCT04029142).

2016 ◽  
Vol 97 (4) ◽  
pp. 656-661
Author(s):  
M G Tukhbatullin ◽  
K V Yanakova

Aim. To study capabilities of quantitative elastographic study to assess the elasticity of the uterine cervix in women with a fetal chromosomal abnormality in the first trimester of pregnancy.Methods. 230 pregnant women of high-risk group at 11-13.6 weeks of pregnancy (parietal-coccygeal length 45-84 mm) were included in this study. The first group consisted of 213 women without fetal pathology. The second group included 17 women, in whose fetuses different chromosomal abnormalities were detected. In ultrasound examination of pregnant women in the I trimester of pregnancy, in addition to standard methods of examination, quantitative cervical elastography was performed.Results. According to results of quantitative elastography in 14 (82.35%) out of 17 pregnant women (second group) one or another degree of the cervical tissue softening was found, and 3 (17.64%) pregnant women with fetal chromosomal pathology had stiff cervix (all 3 cases with Down syndrome). In the control group in 10 (4.7%) of 213 pregnant women relatively soft cervix was identified, and in 203 (95.3%) women cervical density was higher than the myometrial density. A statistically significant difference between the indices of SWE-Ratio in groups was revealed. Quantitative elastography, as a diagnostic test predicting the risk of miscarriage due to chromosomal abnormalities, has a high sensitivity (84.38%) and even higher specificity (95.26%) of negative predictive value 97.57%.Conclusion. Quantitative elastography reveals a significant decrease in the cervical elasticity (softening) in pregnant women with fetal chromosomal abnormality in the I trimester of pregnancy, which allows us to recommend this method of ultrasound examination as an additional marker for early diagnosis of miscarriage due to fetal chromosomal abnormality.


2011 ◽  
Vol 164 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Weiwei Wang ◽  
Weiping Teng ◽  
Zhongyan Shan ◽  
Sen Wang ◽  
Jianxin Li ◽  
...  

ContextMaternal thyroid disorders during early pregnancy can influence pregnancy outcome and fetal development. The recent Endocrine Society Clinical Practice Guideline recommends a case-finding approach in which pregnant women who are at high risk for developing thyroid disease are tested.ObjectiveThe purpose of this study was to use the first trimester-specific reference intervals of thyroid-related hormones to explore the prevalence of thyroid dysfunction during early pregnancy and to analyze effectiveness of different screening strategies.DesignA multicenter cohort study.MethodA total of 2899 pregnant women were enrolled in this study during their first trimester of gestation. Levels of TSH, free thyroxine, free triiodothyronine, and thyroid peroxidase antibodies (TPOAb) were measured and thyroid disorders of pregnant women were diagnosed based on the first trimester-specific reference intervals.ResultsThe prevalence of hypothyroidism was significantly higher in the high-risk group than in the non-high-risk group (10.9 vs 7.0%, χ2=7.1, P=0.008). The prevalence of hyperthyroidism was not significantly different between the high-risk group and the non-high-risk group (2.7 vs 1.6%, χ2=2.27, P=0.13). Elevated levels of TPOAb and a personal history of thyroid disease increased the risk of thyroid dysfunction.ConclusionsA case-finding strategy for screening thyroid function in the high-risk group would miss about 81.6% pregnant women with hypothyroidism and 80.4% pregnant women with hyperthyroidism.


Author(s):  
Johannes Korth ◽  
Benjamin Wilde ◽  
Sebastian Dolff ◽  
Jasmin Frisch ◽  
Michael Jahn ◽  
...  

SARS-CoV-2 is a worldwide challenge for the medical sector. Healthcare workers (HCW) are a cohort vulnerable to SARS-CoV-2 infection due to frequent and close contact with COVID-19 patients. However, they are also well trained and equipped with protective gear. The SARS-CoV-2 IgG antibody status was assessed at three different time points in 450 HCW of the University Hospital Essen in Germany. HCW were stratified according to contact frequencies with COVID-19 patients in (I) a high-risk group with daily contacts with known COVID-19 patients (n = 338), (II) an intermediate-risk group with daily contacts with non-COVID-19 patients (n = 78), and (III) a low-risk group without patient contacts (n = 34). The overall seroprevalence increased from 2.2% in March–May to 4.0% in June–July to 5.1% in October–December. The SARS-CoV-2 IgG detection rate was not significantly different between the high-risk group (1.8%; 3.8%; 5.5%), the intermediate-risk group (5.1%; 6.3%; 6.1%), and the low-risk group (0%, 0%, 0%). The overall SARS-CoV-2 seroprevalence remained low in HCW in western Germany one year after the outbreak of COVID-19 in Germany, and hygiene standards seemed to be effective in preventing patient-to-staff virus transmission.


2012 ◽  
Vol 17 (3) ◽  
Author(s):  
J M Munster ◽  
L M Steggerda ◽  
A C Leenders ◽  
J G Aarnoudse ◽  
E Hak

In Europe the incidence of human Q fever has dramatically increased over the previous years. Untreated infections with Coxiella burnetii, the causal agent of Q fever, have been associated with both obstetric and maternal complications. The majority of pregnant women with a C. burnetii infection remain asymptomatic, hence screening could be of value to prevent unwanted outcomes in this high-risk group. We applied the updated Wilson and Jungner criteria to review the evidence for routine screening for C. burnetii infection during pregnancy. Since much uncertainty remains about the incidence, clinical consequences, diagnostics and treatment of C. burnetii infection during pregnancy, routine screening for C. burnetii infection during pregnancy should not be recommended. Rigorous studies to assess the effectiveness of C. burnetii screening are warranted.


2021 ◽  
Vol 99 (1) ◽  
pp. 15-20
Author(s):  
A. P. Melnikov ◽  
M. G. Kashchuk ◽  
K. N. Ahvlediani ◽  
I. N. Bokarev

The rate of thromboembolic complications associated with thrombophilia is very high; therefore the detection of thrombophilia mutations in the high-risk group of patients is important for the prevention of morbidity, mortality and obstetric losses. The problem of thrombophilia is dealt with by doctors of various specialties: laboratory stuff, geneticists, vascular surgeons, hematologists, neurologists, cardiologists and obstetricians-gynecologists. At the same time, patients with spontaneous thrombosis are followed-up for years without proper examination for thrombophilia. Considering that pregnancy is a condition associated with a high probability of re-thrombosis, it is advisable to determine the cause and tactics of management and treatment of pregnant women as early as possible during the period of pregnancy.


Author(s):  
N.A. Altynnik, M.V. Medvedev, Å.G. Voytuk

Sixteen cases of prenatal ultrasound diagnosis of chorionic bump at 6–29 weeks of gestation, as well as an analysis of the literature covering 97 cases of prenatal diagnosis of chorionic bump is presented. All cases of chorionic bump was isolated. In 14 (87.5 %) cases the outcome of pregnancy was favourable, in 2 (12.5 %) cases were poor outcome. Сhorionic bump on first-trimester sonography is not necessarily associated with a guarded prognosis, but it condition is recommended to assign the patient to the high-risk group of a threatened miscarriage and ensure careful dynamic ultrasound observation.


1993 ◽  
Vol 72 (2) ◽  
pp. 600-602 ◽  
Author(s):  
Deborah Lieberman ◽  
Shaul Harel

81 pregnant women were interviewed at the time of the Gulf War. One group was interviewed before the missile attacks began in Israel, and the second group during the period of the attacks. Of the women interviewed, 53 women had “high-risk” pregnancies and 28 had normal pregnancies. Despite the hypothesis that women with “at-risk” pregnancies would report a greater rise in anxiety during the missile attacks, it was found that the women with normal pregnancies reported a significantly greater rise in anxiety during missile attacks. It is suggested that the already-stressed “high-risk” group “shut out” the additional anxiety generated by the dangers from the missile attacks.


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