scholarly journals Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy

2019 ◽  
Author(s):  
Wei Li ◽  
Fanwei Zeng ◽  
Baitong Fan ◽  
Nan Yu ◽  
Jing Wu ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Large Population ◽  
False Negative ◽  
Population Based ◽  
Screening Tests ◽  
Ventricular Septal Defects ◽  
Noninvasive Prenatal Screening ◽  
Septal Defects ◽  
Us Findings ◽  
The Impact

PurposeTo evaluate the impact of ultrasonography (US) on identifying noninvasive prenatal screening (NIPS) false-negative aneuploidy.MethodsAnalysis of large population-based NIPS false-negative aneuploidy data comprising karyotypes, clinical outcomes, and US results.ResultsFrom December 2010 to July 2018, a total of 3,320,457 pregnancies were screened by NIPS performed in BGI; among them, 69 NIPS false-negative aneuploidy cases with informed consent were confirmed, and US examination data for 48 cases were not available. Of the 21 cases with US results, 19 (90.5%) had various abnormalities on ultrasound, and 2 (9.5%) cases were shown to be normal on ultrasound. Additionally, 6 out of 7 live born fetuses (approximately 85.7%) were found to have abnormalities on ultrasound. Ventricular septal defects constituted the most frequently observed ultrasound abnormality type among the 21 NIPS false-negative aneuploidy cases.ConclusionNIPS has expanded rapidly worldwide and now accounts for a large proportion of prenatal screening tests in China. This study suggests that abnormal US findings should not be neglected, even when NIPS produces a negative result. Combining NIPS with an US examination can further reduce the incidence of livebirths with aneuploidy.

scholarly journals Comparison between Enzyme Immunoassays Performed on Samples of Dried Blood and Serum for Toxoplasmosis Prenatal Screening: Population-based Study

2021 ◽  
Vol 43 (05) ◽  
pp. 351-356
Author(s):  
Bárbara Araújo Marques ◽  
Ericka Vianna Machado Carellos ◽  
Vânia Maria Novato Silva ◽  
Fernando Henrique Pereira ◽  
Maria Regina Lage Guerra ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Dried Blood Spots ◽  
Population Based ◽  
Minas Gerais ◽  
Immunoglobulin M ◽  
Screening Tests ◽  
Reference Test ◽  
Screening Programs ◽  
Blood Spots

Abstract Objective Most prenatal screening programs for toxoplasmosis use immunoassays in serum samples of pregnant women. Few studies assess the accuracy of screening tests in dried blood spots, which are of easy collection, storage, and transportation. The goals of the present study are to determine the performance and evaluate the agreement between an immunoassay of dried blood spots and a reference test in the serum of pregnant women from a population-based prenatal screening program for toxoplasmosis in Brazil. Methods A cross-sectional study was performed to compare the immunoassays Imunoscreen Toxoplasmose IgM and Imunoscreen Toxoplasmose IgG (Mbiolog Diagnósticos, Ltda., Contagem, Minas Gerais, Brazil)in dried blood spots with the enzyme-linked fluorescent assay (ELFA, BioMérieux S.A., Lyon, France) reference standard in the serum of pregnant women from Minas Gerais Congenital Toxoplasmosis Control Program. Results The dried blood spot test was able to discriminate positive and negative results of pregnant women when compared with the reference test, with an accuracy of 98.2% for immunoglobulin G (IgG), and of 95.8% for immunoglobulin M (IgM). Conclusion Dried blood samples are easy to collect, store, and transport, and they have a good performance, making this a promising method for prenatal toxoplasmosis screening programs in countries with continental dimensions, limited resources, and a high prevalence of toxoplasmosis, as is the case of Brazil.

scholarly journals Correlation between maternal serum biochemical markers with karyotyping for prenatal screening of foetal chromosomal abnormalities

2017 ◽  
Vol 6 (11) ◽  
pp. 4851
Author(s):  
Ketki S. Kulkarni ◽  
Payal Lakhani ◽  
Sujata A. Dalvi ◽  
Chandrashankar Gupta
Keyword(s):  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Tertiary Care ◽  
False Negative ◽  
Positive Likelihood Ratio ◽  
Screening Tests ◽  
Confirmatory Test ◽  
Singleton Pregnancy ◽  
True Negative ◽  
Marker Test

Background: Prenatal screening for chromosomal abnormalities can be done by biochemical screening tests like dual marker test (DMT), triple marker test (TMT) and quadruple marker test (QMT). It is important to identify ideal screening test among them which best correlates with result of karyotyping which is confirmatory test of foetal chromosomal abnormalities. This helps to decrease need for invasive prenatal tests for foetal karyotyping. This study aims to evaluate sensitivity, specificity, diagnostic accuracy and correlation of DMT, TMT, and QMT with results of karyotyping.Methods: Retrospective observational study was conducted in tertiary care maternity hospital over one year- 1st January 2015 to 31st December 2015. Women with singleton pregnancy undergoing DMT, TMT or QMT were included.Results: Of the 529 women screened by biochemical marker tests, 462 (87.33%) were screen negative and 67 (12.66%) women were screen positive. In 56 women, it was false positive (83.58%) and in 11 women true positive (16.41%). In 461 women the test results were true negative (99.78%), but in one case, result was false negative (0.21%).  3/11 (27.27%)women with foetal chromosomal abnormalities were primigravidae. 4/11 (36.36%)women were below 35 years. DMT and QMT had higher sensitivity (both 100%) and specificity (90.00% and 93.18% respectively) than TMT (sensitivity 80% and specificity 82.61%). Positive likelihood ratio (LR+) was 1.00 in DMT. Diagnostic odds ratio was highest with DMT (DOR=115.11) and best correlated with karyotyping results (coefficient of correlation 0.4).Conclusions: Universal screening of antenatal women, irrespective of their age and parity is suggested. DMT has highest diagnostic value and best correlation with the results of karyotyping. Hence the dual marker test can be considered to be better test for screening for aneuploidy.

scholarly journals Primary Care Consultations after Hospitalisation for Pneumonia: A Large Population-based Cohort Study

2020 ◽  
pp. BJGP.2020.0890
Author(s):  
Vadsala Baskaran ◽  
Fiona Pearce ◽  
Rowan H Harwood ◽  
Tricia McKeever ◽  
Wei Shen Lim
Keyword(s):  
Primary Care ◽  
Cohort Study ◽  
Large Population ◽  
Significant Proportion ◽  
Antibiotic Use ◽  
Population Based ◽  
Practice Research ◽  
Clinical Practice Research Datalink ◽  
Respiratory Disorder ◽  
The Impact

Background: Up to 70% of patients report ongoing symptoms four weeks after hospitalisation for pneumonia, and the impact on primary care is poorly understood. Aim: To investigate the frequency of primary care consultations after hospitalisation for pneumonia, and the reasons for consultation. Design: Population-based cohort study. Setting: UK primary care database of anonymised medical records (Clinical Practice Research Datalink, CPRD) linked to Hospital Episode Statistics (HES), England. Methods: Adults with the first ICD-10 code for pneumonia (J12-J18) recorded in HES between July 2002-June 2017 were included. Primary care consultation within 30 days of discharge was identified as the recording of any medical Read code (excluding administration-related codes) in CPRD. Competing-risks regression analyses were conducted to determine the predictors of consultation and antibiotic use at consultation; death and readmission were competing events. Reasons for consultation were examined. Results: Of 56,396 adults, 55.9% (n=31,542) consulted primary care within 30 days of discharge. The rate of consultation was highest within 7 days (4.7 per 100 person-days). The strongest predictor for consultation was a higher number of primary care consultations in the year prior to index admission (adjusted sHR 8.98, 95% CI 6.42-12.55). The commonest reason for consultation was for a respiratory disorder (40.7%, n=12,840), 12% for pneumonia specifically. At consultation, 31.1% (n=9,823) received further antibiotics. Penicillins (41.6%, n=5,753) and macrolides (21.9%, n=3,029) were the commonest antibiotics prescribed. Conclusion: Following hospitalisation for pneumonia, a significant proportion of patients consulted primary care within 30 days, highlighting the morbidity experienced by patients during recovery from pneumonia.

Does the level of family dysfunction moderate the impact of genetic factors on the personality trait of neuroticism?

2003 ◽  
Vol 33 (5) ◽  
pp. 817-825 ◽  
Author(s):  
K. S. KENDLER ◽  
S. H. AGGEN ◽  
K. C. JACOBSON ◽  
M. C. NEALE
Keyword(s):  
Family Environment ◽  
Personality Trait ◽  
Structural Equation ◽  
Genetic Factors ◽  
False Negative ◽  
Population Based ◽  
Family Dysfunction ◽  
Twin Model ◽  
The Family ◽  
The Impact

Background. While the family environment can directly influence later risk for psychopathology, dysfunction in the family of origin may also moderate the impact of genetic factors on liability for psychiatric disorders. Can a similar pattern be seen for the personality trait of Neuroticism (N) – which is a risk factor for many psychiatric conditions?Method. Our sample of 957 complete female–female twin pairs from a population-based register had measures of self-reported N and multiple reporters (twin, co-twin, mother, father) for family dysfunction (FD). Statistical analysis was conducted by traditional regression analysis and a moderator structural equation twin model operationalized in the computer program Mx.Results. Dividing the sample into quartiles based on increasing levels of FD, the mean of N increased substantially while correlations of N in monozygotic (MZ) and dizygotic (DZ) twins were relatively constant. Regression analyses did not suggest greater twin resemblance for N with increasing levels of FD. The best-fit structural equation model was the standard un-moderated model in which the proportion of variance in N due to genetic (39%) and unique environmental effects (61%) remained constant across values of FD.Conclusions. Although a false-negative result due to limited power cannot be excluded, these analyses do not support the hypothesis that FD moderates the impact of genetic factors on levels of N.

Critical appraisal of a large population-based case–control study

2017 ◽  
Author(s):  
Mark Elwood
Keyword(s):  
Dose Response ◽  
Case Control Study ◽  
Large Population ◽  
Quantitative Relationship ◽  
Population Based ◽  
Case Control ◽  
Critical Assessment ◽  
Response Consistency ◽  
The Impact ◽  
Control Study

This chapter shows a large population-based case-control study, to address the quantitative relationship between alcohol consumption and breast cancer. It shows the logistic and design issues, and the assessment of dose-response, consistency and specificity. The critical assessment follows the scheme set out in chapter 10: describing the study, assessing the non-causal explanations of observation bias, confounding, and chance variation; assessing time relationships, strength, dose-response, consistency and specificity, and applying the results to the eligible, source, and target populations; and then comparing the results with evidence from other studies, considering consistency and specificity, biological mechanisms, and coherence with the distribution of exposures and outcomes. The chapter gives a summary and table of the critical assessment and its conclusions; and comments on the impact of the study and research carried out since.

scholarly journals Recurrent acute kidney injury: predictors and impact in a large population-based cohort

2019 ◽  
Vol 35 (8) ◽  
pp. 1361-1369 ◽  
Author(s):  
Jennifer Holmes ◽  
John Geen ◽  
John D Williams ◽  
Aled O Phillips
Keyword(s):  
Acute Kidney Injury ◽  
Renal Function ◽  
Patient Outcomes ◽  
Large Population ◽  
Kidney Injury ◽  
Population Based ◽  
First Episode ◽  
Single Episode ◽  
Subsequent Episode ◽  
The Impact

Abstract Background This study examined the impact of recurrent episodes of acute kidney injury (AKI) on patient outcomes. Methods The Welsh National electronic AKI reporting system was used to identify all cases of AKI in patients ≥18 years of age between April 2015 and September 2018. Patients were grouped according to the number of AKI episodes they experienced with each patient’s first episode described as their index episode. We compared the demography and patient outcomes of those patients with a single AKI episode with those patients with multiple AKI episodes. Analysis included 153 776 AKI episodes in 111 528 patients. Results Of those who experienced AKI and survived their index episode, 29.3% experienced a second episode, 9.9% a third episode and 4.0% experienced fourth or more episodes. Thirty-day mortality for those patients with multiple episodes of AKI was significantly higher than for those patients with a single episode (31.3% versus 24.9%, P < 0.001). Following a single episode, recovery to baseline renal function at 30 days was achieved in 83.6% of patients and was significantly higher than for patients who had repeated episodes (77.8%, P < 0.001). For surviving patients, non-recovery of renal function following any AKI episode was significantly associated with a higher probability of a further AKI episode (33.4% versus 41.0%, P < 0.001). Furthermore, with each episode of AKI the likelihood of a subsequent episode also increased (31.0% versus 43.2% versus 51.2% versus 51.7% following a first, second, third and fourth episode, P < 0.001 for all comparisons). Conclusions The results of this study provide an important contribution to the debate regarding the need for risk stratification for recurrent AKI. The data suggest that such a tool would be useful given the poor patient and renal outcomes associated with recurrent AKI episodes as highlighted by this study.

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

2019 ◽  
Vol 21 (10) ◽  
pp. 2293-2302 ◽  
Author(s):  
Xing Ji ◽  
Jia Li ◽  
Yonghua Huang ◽  
Pi-Lin Sung ◽  
Yuying Yuan ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Screening Tests ◽  
Noninvasive Prenatal Screening

scholarly journals Distinguishing postpartum and antepartum depressive trajectories in a large population-based cohort: the impact of exposure to adversity and offspring gender

2017 ◽  
Vol 48 (7) ◽  
pp. 1139-1147 ◽  
Author(s):  
C. A. Denckla ◽  
A. D. Mancini ◽  
N. S. Consedine ◽  
S. M. Milanovic ◽  
A. Basu ◽  
...  
Keyword(s):  
Depressive Symptoms ◽  
Maternal Age ◽  
Child Outcomes ◽  
Large Population ◽  
Growth Mixture Modeling ◽  
Temporal Patterns ◽  
Population Based ◽  
Child Gender ◽  
Offspring Gender ◽  
The Impact

AbstractBackgroundDistinguishing temporal patterns of depressive symptoms during pregnancy and after childbirth has important clinical implications for diagnosis, treatment, and maternal and child outcomes. The primary aim of the present study was to distinguish patterns of chronically elevated levels of depressive symptoms v. trajectories that are either elevated during pregnancy but then remit after childbirth, v. patterns that increase after childbirth.MethodsThe report uses latent growth mixture modeling in a large, population-based cohort (N = 12 121) to investigate temporal patterns of depressive symptoms. We examined theoretically relevant sociodemographic factors, exposure to adversity, and offspring gender as predictors.ResultsFour distinct trajectories emerged, including resilient (74.3%), improving (9.2%), emergent (4.0%), and chronic (11.5%). Lower maternal and paternal education distinguished chronic from resilient depressive trajectories, whereas higher maternal and partner education, and female offspring gender, distinguished the emergent trajectory from the chronic trajectory. Younger maternal age distinguished the improving group from the resilient group. Exposure to medical, interpersonal, financial, and housing adversity predicted membership in the chronic, emergent, and improving trajectories compared with the resilient trajectory. Finally, exposure to medical, interpersonal, and financial adversity was associated with the chronic v. improving group, and inversely related to the emergent class relative to the improving group.ConclusionsThere are distinct temporal patterns of depressive symptoms during pregnancy, after childbirth, and beyond. Most women show stable low levels of depressive symptoms, while emergent and chronic depression patterns are separable with distinct correlates, most notably maternal age, education levels, adversity exposure, and child gender.

scholarly journals Seawater desalination and serum magnesium concentrations in Israel

2016 ◽  
Vol 15 (2) ◽  
pp. 296-299 ◽  
Author(s):  
Gideon Koren ◽  
Meital Shlezinger ◽  
Rachel Katz ◽  
Varda Shalev ◽  
Yona Amitai
Keyword(s):  
Serum Magnesium ◽  
Large Population ◽  
Population Based ◽  
Morbidity And Mortality ◽  
Population Based Study ◽  
Cardiac Morbidity ◽  
Before And After ◽  
The Mean ◽  
Magnesium Status ◽  
The Impact

With increasing shortage of fresh water globally, more countries are consuming desalinated seawater (DSW). In Israel >50% of drinking water is now derived from DSW. Desalination removes magnesium, and hypomagnesaemia has been associated with increased cardiac morbidity and mortality. Presently the impact of consuming DSW on body magnesium status has not been established. We quantified changes in serum magnesium in a large population based study (n = 66,764), before and after desalination in regions consuming DSW and in regions where DSW has not been used. In the communities that switched to DSW in 2013, the mean serum magnesium was 2.065 ± 0.19 mg/dl before desalination and fell to 2.057 ± 0.19 mg/dl thereafter (p < 0.0001). In these communities 1.62% of subjects exhibited serum magnesium concentrations ≤1.6 mg/dl between 2010 and 2013. This proportion increased by 24% between 2010–2013 and 2015–2016 to 2.01% (p = 0.0019). In contrast, no such changes were recorded in the communities that did not consume DSW. Due to the emerging evidence of increased cardiac morbidity and mortality associated with hypomagnesaemia, it is vital to consider re-introduction of magnesium to DSW.

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