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"Prenatal Screening"

Aki Koivu, Teemu Korpimäki, Petri Kivelä, Tapio Pahikkala, Mikko Sairanen
Prenatal screening generates a great amount of data that is used for predicting risk of various disorders. Prenatal risk assessment is based on multiple clinical variables and overall performance is defined by how well the risk algorithm is optimized for the population in question. This article evaluates machine learning algorithms to improve performance of first trimester screening of Down syndrome. Machine learning algorithms pose an adaptive alternative to develop better risk assessment models using the existing clinical variables...
May 4, 2018: Computers in Biology and Medicine
Eva Berenth Paaske, Ester Garne
In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County...
May 10, 2018: European Journal of Medical Genetics
Carmen Mesas Burgos, Björn Frenckner, Matias Luco, Matthew T Harting, Pamela A Lally, Kevin P Lally
AIM: To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH. MATERIAL AND METHODS: We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position...
April 14, 2018: Journal of Pediatric Surgery
Robyn Brunton, Rachel Dryer, Anthony Saliba, Jane Kohlhoff
BACKGROUND: Recognition of pregnancy-related anxiety as a distinct anxiety is supported by evidence differentiating it from general anxiety and depression. Adverse associations with pregnancy-related anxiety further support this distinction. An influential study by Huizink et al. (2004), demonstrated that anxiety and depression contribute little to the variance of pregnancy-related anxiety, yet this study has not been replicated. Further, addressing limitations of the original study will provide further clarity to the findings...
May 7, 2018: Women and Birth: Journal of the Australian College of Midwives
Lindsay M Freeman, Lin Pang, Yeshaiahu Fainman
The analysis of DNA has led to revolutionary advancements in the fields of medical diagnostics, genomics, prenatal screening, and forensic science, with the global DNA testing market expected to reach revenues of USD 10.04 billion per year by 2020. However, the current methods for DNA analysis remain dependent on the necessity for fluorophores or conjugated proteins, leading to high costs associated with consumable materials and manual labor. Here, we demonstrate a potential label-free DNA composition detection method using surface-enhanced Raman spectroscopy (SERS) in which we identify the composition of cytosine and adenine within single strands of DNA...
May 9, 2018: Scientific Reports
Alaa AlAli, Stephanie Kletke, Brenda Gallie, Wai-Ching Lam
Retinoblastoma can present in 1 or both eyes and is the most common intraocular malignancy in childhood. It is typically initiated by biallelic mutation of the RB1 tumor suppressor gene, leading to malignant transformation of primitive retinal cells. The most common presentation is leukocoria, followed by strabismus. Heritable retinoblastoma accounts for 45% of all cases, with 80% being bilateral. Treatment and prognosis of retinoblastoma is dictated by the disease stage at initial presentation. The 8th Edition American Joint Committee on Cancer (AJCC) TNMH (tumor, node, metastasis, heritable trait) staging system defines evidence-based clinical and pathological staging for overall prognosis for eye(s) and child...
May 8, 2018: Asia-Pacific Journal of Ophthalmology
Rachel K Scott, Stacia Crochet, Chun-Chih Huang
Objective: To determine the cost-effectiveness of universal maternal HIV screening at time of delivery to decrease mother-to-child transmission (MTCT), by comparing the cost and quality-adjusted life years (QALYs) of universal rapid HIV screening at time of delivery to two current standards of care for prenatal HIV screening in the United States. Study Design: We conducted a cost-effectiveness analysis to compare the cost and QALY of universal intrapartum rapid HIV screening with two current standards of care: (I) opt-out rapid HIV testing limited to patients without previous third-trimester screening and (II) opt-out rapid HIV testing limited to patients without any prenatal screening...
2018: Infectious Diseases in Obstetrics and Gynecology
Yin Hong, L I Yang
OBJECTIVE: This study aimed to discuss the diagnostic value of Omniview technique on the agenesis of corpus callosum. METHODS: A total of 43 pregnant women with no obvious structural abnormality and eight pregnant women who diagnosed with agenesis of corpus callosum (ACC) were included in this study. The 2D ultrasonography and 3D ultrasonography Omniview technique were used to carry out ultrasonic examination on 43 normal fetuses and eight fetuses with agenesis of corpus callosum (as verified through magnetic resonance) respectively...
May 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Yahong Li, Xiaojuan Zhang, Dongyang Hong, Xianwei Guan, Shaolei Lv, Yun Sun, Tao Jiang
Dual detection of α-fetoprotein (AFP) and free β-human chorionic gonadotropin (β-HCG) is a common screening method for Down syndrome in the second trimester and its efficacy is assessed by false-positive rate (FPR). The present study aimed to investigate the effects of the bias in median multiple of the median (mMoM) values of AFP and free β-HCG on FPR. The bias in mMoM values of AFP and free β-HCG and the bias in mMoM values under different gestational ages and weight groups were analyzed. Median equations were adjusted, and medians in LifeCycle software were replaced by local medians...
May 2018: Biomedical Reports
An Chen, Henni Tenhunen, Paulus Torkki, Antti Peltokorpi, Seppo Heinonen, Paul Lillrank, Vedran Stefanovic
BACKGROUND: Population-based prenatal screening has become a common and widely available obstetrical practice in majority of developed countries. Under the patient autonomy principle, women should understand the screening options, be able to take their personal preferences and situations into account, and be encouraged to make autonomous and intentional decisions. The majority of the current research focuses on the prenatal screening uptake rate, women's choice on screening tests, and the influential factors...
May 2, 2018: BMC Pregnancy and Childbirth
Jun Fu, Yu Qu, Fei Ji, Huijuan Li, Fangyuan Chen
From 1979 to 2014 in China, a 1-child policy was imposed to control population growth. During 2014 to 2015, families in which 1 spouse was only 1 child were eligible to apply for planning a second child. To foresee issues affecting obstetrical departments related to the introduction of the universal 2-child policy in 2016, we retrospectively investigated the demographics and health-related outcomes of second pregnancies in families applying for a second child in Jiangbei District of Ningbo City during January 17, 2014, to January 14, 2016...
May 2018: Medicine (Baltimore)
Milena Furione, Antonella Sarasini, Alessia Arossa, Chiara Fornara, Daniele Lilleri, Laurent Perez, Maurizio Parea, Maurizio Zavattoni, Arsenio Spinillo, Piero Marone, Fausto Baldanti
BACKGROUND: An incorrect definition of immune status to human cytomegalovirus (HCMV) can lead to incorrect management of pregnant women. OBJECTIVES: Aims of the study were: i) to describe 10 cases of unconfirmed HCMV IgG-seroconversion in pregnancy; ii) to develop a panel of confirmatory tests to define HCMV serostatus; iii) to investigate the frequency of false IgG-positive results in pregnant women screened with the LIAISON® CMVIgGII automated assay. STUDY DESIGN: Blood samples from 10 pregnant women referred for HCMV IgG-seroconversion were examined to confirm/exclude a primary infection...
April 21, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
Adriana Kater-Kuipers, Inez D de Beaufort, Robert-Jan H Galjaard, Eline M Bunnik
In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal screening programmes, the concept of routinisation is often used to refer to concerns and potential negative consequences of the test. A literature analysis shows that routinisation has many different meanings, which can be distinguished in three major versions of the concept. Each of these versions comprises several inter-related fears and concerns regarding prenatal screening and particularly regarding NIPT in three areas: (1) informed choice, (2) freedom to choose and (3) consequences for people with a disability...
April 25, 2018: Journal of Medical Ethics
Samira Abbasgholizadeh Rahimi, Johanie Lépine, Jordie Croteau, Hubert Robitaille, Anik Mc Giguere, Brenda J Wilson, François Rousseau, Isabelle Lévesque, France Légaré
BACKGROUND: Decisions about prenatal screening for Down syndrome are difficult for women, as they entail risk, potential loss, and regret. Shared decision making increases women's knowledge of their choices and better aligns decisions with their values. Patient decision aids foster shared decision making but are rarely used in this context. OBJECTIVE: One of the most promising strategies for implementing shared decision making is distribution of decision aids by health professionals...
April 25, 2018: Journal of Medical Internet Research
Ryan F Relich, Rebecca J Buckner, Christopher L Emery, Thomas E Davis
The incidence of neonatal Group B streptococcal (GBS) disease has significantly declined since the widespread implementation of prenatal screening of expectant mothers for urogenital and gastrointestinal tract GBS colonization. Screening methods have evolved from exclusively culture-based approaches to more rapid and highly sensitive molecular methods. We chose to evaluate the performance of 4 commercially available GBS molecular tests for detection of GBS colonization using 299 antepartum rectal-vaginal specimens submitted to our laboratory for routine GBS screening...
March 28, 2018: Diagnostic Microbiology and Infectious Disease
Livia Dainelli, Alberto Prieto-Patron, Irma Silva-Zolezzi, Sandra G Sosa-Rubi, Salvador Espino Y Sosa, Enrique Reyes-Muñoz, Ruy Lopez-Ridaura, Patrick Detzel
Purpose: To identify the most common practices implemented for the screening and treatment of gestational diabetes mellitus (GDM) and to estimate the GDM clinician-reported proportion as a proxy of the incidence in Mexico. Materials and methods: Three hundred fifty-seven physicians in four major cities were asked about their practices regarding GDM screening, treatment, clinical exams, and health care staff involved in case of GDM diagnosis, as well as the percentage of women with GDM they care for...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians...
December 2017: Indian Journal of Medical Research
Rosalyn E Plotzker, Ryan D Murphy, Juliet E Stoltey
BACKGROUND: Congenital syphilis (CS) - the preventable transmission of Treponema pallidum from infected mother to fetus - remains a significant problem worldwide. METHODS: From July through November 2017, 239 articles relevant to CS prevention were identified via keyword searches in PubMed and Google Scholar, ancestry searches, and expert recommendation. Articles were then assessed for 1) measurement of a specified CS or adverse pregnancy outcome (APOs) and 2) geographic setting in high/upper middle income countries according to United Nations criteria...
April 5, 2018: Sexually Transmitted Diseases
Kathleen A Calzone, Maggie Kirk, Emma Tonkin, Laurie Badzek, Caroline Benjamin, Anna Middleton
PURPOSE: Nurses have a pivotal role in bringing the benefits of genomics and precision medicine to everyday health care, but a concerted global effort is needed to transform nursing policy and practice to address widely acknowledged deficits in nurses' genomic literacy. The purpose was to conduct a global country and organization review of nursing engagement with genomics, informing a landscape analysis to assess readiness for integration of genomics into nursing. DESIGN: Global nursing leaders and nursing organizations were recruited using a purposive sampling strategy to complete an online survey that assessed the scope of genomic integration in practice and education, challenges and barriers, and priorities for action...
April 2, 2018: Journal of Nursing Scholarship
F Léonard, Renaud Gueben, Robin Gueben, B Grisart, C Van Linthout
The non-invasive prenatal test (NIPT) has recently been added in our clinical practice. Sensitivity and specificity of this method in the common fetal aneuploidies screening is about 99 %. This technique remains a screening test, not a diagnosis test, because false positive or negative results exist. The discordant results are explained by the method itself witch analyses the whole free circulating DNA in the maternal blood: the fetal DNA from trophoblastic cells lysing but also the maternal DNA. Placenta confined mosaic is the main false positive cause reported in the literature...
March 2018: Revue Médicale de Liège
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