Prenatal diagnosis in advanced maternal age. Amniocentesis or CVS,a patient's choice or lack of information?

Ninety-six women of advanced maternal age were interviewed about the way they obtained information on prenatal diagnosis and about how the decision was made as to what procedure was to be performed (transabdominal chorionic villus sampling (TA-CVS) or amnio-centesis). In the CVS group, women visited their physician or midwife earlier in pregnancy (mean 7.1 weeks) than those in the amniocentesis group (mean 10.7 weeks). The availability of prenatal diagnosis was not mentioned during the first antenatal visit in 55 per cent of women from the amniocentesis group as opposed to 25 per cent from the TA-CVS group. Approximately 40 per cent of women eligible for prenatal diagnosis did not receive any information from the referring body prior to counselling at our centre. Only 29 per cent of women who underwent amniocentesis had actually chosen this procedure; 71 per cent were too late to undergo TA-CVS at 12 weeks. It is concluded that information to the patient must be improved in order to ensure early referral for prenatal diagnosis.     

First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

An approach to preimplantation diagnosis of β-thalassaemia

Using the polymerase chain reaction (PCR), it was possible to amplify a single copy fragment of the β-globin gene from 2–32 human embryonic cells obtained from arrested preimplantation embryos. For the detection of β-thalassaemia mutations, allele specific priming of the PCR using nested primers was employed using approximately 10 pg of DN A from individuals known to carry these mutations. This approach was successful in detecting the presence or absence of five Asian Indian β-thalassaemia mutations that were selected for this study. In spite of meticulous precautions against contamination, false-positive amplification was observed, a problem that will have to be overcome before this approach can be used in clinical practice.     

A Bayesian assessment of the effect of highway bypasses in Iowa on crashes and crash rate

Introduction

A common contention is that the construction of highway bypasses negatively impacts the economy of local communities by reducing pass-by traffic for businesses. However, as access to specific business' account records is limited, this impact is difficult to quantify. Another common contention is that bypasses contribute to a reduction in overall crashes in the community and in the surrounding areas. Even though a large number of bypasses have been constructed in the State of Iowa over the past several years, their actual impact in terms of traffic safety has not been quantified.

Objectives

This study seeks answers to the following questions: (a) Are bypasses in Iowa associated with a reduction in crash frequencies and crash rates on the bypassed highway? (b) Do bypasses in Iowa introduce a reduction of overall crash frequencies and rates or do they merely shift crashes from the highways through the communities to the bypasses with no significant overall reduction?

Method

We obtained crash information from the Iowa DOT at 19 sites on which a bypass was constructed sometime during the past 23 years. We also obtained the same information at six sites used as comparison sites on which no bypasses were constructed at least until 2005. We them employed a Bayesian approach to estimating the association between the construction of the bypass and crash rates, while also accounting for other factors.

Results

The construction of bypasses in Iowa is associated with a significant increase in traffic safety both on the main road through town and on the combined main road and bypass roadway.     

Highlights of LNG risk technology

The authors have recently undertaken a major review of LNG consequence modeling, compiling a wide range of historical information with more recent experiments and modeling approaches in a book entitled “LNG Risk-Based Safety: Modeling and Consequence Analysis”. All the main consequence routes were reviewed – discharge, evaporation, pool and jet fire, vapor cloud explosions, rollover, and Rapid Phase Transitions (RPT’s). In the book, experimental data bases are assembled for tests on pool spread and evaporation, burn rates, dispersion, fire and radiation and effects on personnel and structures. The current paper presents selected highlights of interest: lessons learned from historical development and experience, comparison of predictions by various models, varying mechanisms for LNG spread of water, a modeling protocol to enable acceptance of newer models, and unresolved technical issues such as cascading failures, fire engulfment of a carrier, the circumstances for a possible LNG BLEVE, and accelerated evaporation by LNG penetration into water.     

硫酸铜和氰戊菊酯对斑马鱼急性毒性试验

为探究重金属和农药对斑马鱼的毒性与安全评价,选用硫酸铜、氰戊菊酯对斑马鱼进行急性毒性试验,以24～96h半致死浓度(LC50)判定斑马鱼对这两种药物的敏感性.结果表明,硫酸铜24 hLC50、48h LC50、72 h LC50、96h LC50分别为12mg/L、7.9 mg/L、6.8mg/L、5.4 mg/L;氰戊菊酯24 h LC50、48h LC50、72h LC50、96h LC50分别为1.2×10-4 mg/L、0.9×10-4 mg/L、0.9×10-4 mg/L、0.9×10-4 mg/L; 硫酸铜安全质量浓度为1.03mg/L,氰戊菊酯为1.52×1O-5 mg/L.参照我国化学物质对鱼类毒性分级标准,判定硫酸铜对斑马鱼急性毒性为Ⅱ级,氰戊菊酯对斑马鱼急性毒性为Ⅰ级.     

Prenatal DNA Sequencing: Clinical,Counseling, and Diagnostic Laboratory Considerations

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd.     

The legal frameworks that govern fetal surgery in the United Kingdom,European Union,and the United States

The specialty of fetal surgery or fetal intervention is one of the most exciting emerging fields of modern medicine. It is made possible by decades of major developments in antenatal imaging, obstetric anaesthesia, fetal medicine, paediatric surgery, and of course by the bold and novel practitioners willing to take new steps to advance the field. Beginning in the 1970s, it has now reached a stage of maturity where there are several established in utero procedures and countless clinical trials and studies to develop more. But what is the legal situation that fetal surgeons find themselves in? What are the rights and legal protections for the fetus and the mother, both of which are arguably the patient? This article will address this question, discussing and summarising the current legal frameworks governing fetal surgery in the jurisdictions of the United Kingdom, European Court of Human Rights, and the United States of America as well as discuss what the future may hold and how researchers and physicians in the specialty can best navigate the legal environment.