Prenatal diagnosis of Chediak-Higashi syndrome

We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).     

Arts as a vehicle for community building and post‐disaster development

Use of the arts in international aid is common in an ad hoc form, but it has not been systematically theorised or evaluated. The arts have the potential to be a culturally contextualised and sustainable intervention for adults and children in the aftermath of war or disaster. On the micro level, the arts are a method to enable the retrieval and reprocessing of traumatic memories that are often encoded in images rather than in words. On a macro level, they can help to reconstruct a group narrative of a disaster as well as mobilise people back into control of their lives. This paper researches a long‐term project using arts in Sri Lanka following the civil war and tsunami. A central finding is the need to understand arts within their cultural context, and their usefulness in strengthening the voices and problem‐solving capacities of the victims of the disaster.     

The multifunctionality of urban farming: perceived benefits for neighbourhood improvement

Urban farming – a type of urban agriculture focused on entrepreneurial food production – serves multiple functions in neighbourhoods; yet these are not well delineated. Expectations for urban farming often centre on traditional measures of economic development, potentially overlooking other benefits. Through a qualitative case study conducted in Baltimore, Maryland, we sought to understand community perceptions regarding the ways in which urban farms can benefit cities. Interviews with residents, neighbourhood leaders, and urban farmers in three residential neighbourhoods with urban farms revealed the pathways by which community members view farms as improving neighbourhoods. Benefits stemmed from four primary changes urban farms made to study neighbourhoods: creation of public projects welcoming involvement, physical improvement of degraded space, production of local food, and creation of new businesses. These changes led to multiple perceived benefits including increased social connectedness, a transformed physical landscape, improved neighbourhood reputation, increased access to fresh produce, and educational, youth development, and employment opportunities. Our findings demonstrate the importance of a multifunctional paradigm that accounts for social and educational functions in assessing the value of urban farming and bring empirical evidence to the concept of multifunctional agriculture. Urban farms with strong social aims may appear to contribute little to economic development if measured using traditional indicators of success such as job creation or fiscal impacts, but provide numerous other benefits for community development.     

Overview and recent developments in cell-based noninvasive prenatal testing

Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their detection and isolation technically challenging. However, as a DNA source of fetal origin not mixed with maternal DNA, they have the potential of considerable benefit over circulating cell-free DNA-based noninvasive prenatal genetic testing (NIPT). Endocervical trophoblasts, which are less rare but more challenging to recover are also being investigated as an approach for cell-based NIPT. We review published studies from around the world describing both forms of cell-based NIPT and highlight the different approaches’ advantages and drawbacks. We also offer guidance for developing a sound cell-based NIPT protocol.     

Prenatal diagnosis of congenital head,face, and neck malformations—Is complementary fetal MRI of value?

Objectives

The aim of this study was to evaluate the role of fetal magnetic resonance imaging (MRI) as a complement to ultrasound (US) in the prenatal diagnosis of craniofacial anomalies.

Methods

A historical cohort study including all pregnant women who were referred for fetal MRI because of antenatal diagnosis of craniofacial anomalies on screening US. Prenatal diagnostic US, MRI, and postnatal diagnosis were compared for consistencies and discrepancies.

Results

Forty-five pregnant women with 73 suspected fetal craniofacial anomalies diagnosed by US underwent MRI. In 40 out of 73 anomalies (54.8%), US and MRI findings were in complete agreement with postnatal diagnoses. MRI correctly ruled out the diagnosis of 24 anomalies suspected on US and diagnosed four additional pathologies that were not demonstrated by US. Out of the 85 anomalies (suspected by imaging or confirmed postnatally), confident diagnosis could be made by MRI in 68 anomalies (80%), not diagnosed in 10 (11.8%), and over-diagnosed in seven (8.2%). By US, confident diagnosis could be made in 44 anomalies (51.8%), not diagnosed in 11 (12.9%), and over-diagnosed in 30 (35.3%).

Conclusion

MRI is valuable in the antenatal evaluation of fetal craniofacial anomalies and may be useful as an adjunct to US in the prenatal work-up of craniofacial anomalies.     

Acciphilia on the road: An analysis of severe collisions

Introduction

Although prior studies of road traffic accidents have found between-group differences in risk, little attention has been given to the encounter between drivers involved in severe collisions.

Method

The present study empirically evaluates two different possible causes of "social accidents," which are defined as collisions between two or more drivers where some faulty social interaction might be assumed, and which are the most prevalent cause of road injuries. The analyses use merged Israeli collision records from 1983 to 2004 with data from two national censuses, thus providing an unprecedented empirical basis to study the social foundations of car accidents. The data are used to adjudicate between two alternative hypotheses: the heterogeneity hypothesis (socially different drivers tend to collide) versus the homogeneity hypothesis (socially similar drivers tend to collide).

Results

Multivariate analyses provide preliminary support for the latter hypothesis. Given an accident, there are more collisions among drivers from the same broad educational group, and the factors that influence this correlation are independent of geography. The paper thus leads to the idea that severe collisions reflect a sociological or ecological process that is akin to acciphilia.

Impact on Industry

The preliminary findings suggest that variation between drivers may be preferable to similarity, since apparently there is a greater tendency toward collisions between similar drivers.     

The distinction between arylsulphatases in chorionic villi

The relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direct villi or the cultured villi cells. Interestingly, the activity of ASC differed significantly in cultured villi cells when prepared by two different methods, namely, minced villi versus treatment with trypsin and collagenase, while ASA and ASB were not affected by these treatments. Whether ASC was directly affected by one of these treatments or whether a selection of cells with different ASC levels was achieved is not yet clear, but this phenomenon clearly indicates the importance of precise definition of CVS preparations to correlate with the enzyme activity data.     

Uterine cavity lavage: Adding fish to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations

This study was undertaken to examine the efficacy for early prenatal diagnosis of uterine cavity lavage at the level of the internal os and to assess the rate of maternal contamination. In phase I, uterine cavity lavage was performed in 38 women scheduled for pregnancy termination between 6 and 12 weeks. In addition to short- and long-term cultures, one-colour FISH (fluorescence in situ hybridization) with Y and X probes was used for fetal sexing. Two-colour FISH was used in all known male fetuses for the assessment of maternal contamination. In phase II, lavage was performed on 16 women. Fetal sex was diagnosed with direct labelled X and Y probes and common numerical chromosomal aberration was attempted with 18 and 21 direct labelled probes. Fetal sexing was successful in all cases in phases I and II. Out of 34 patients in which tissue was obtained, only FISH was done in six. Long-term cell cultures were successful in the other 28 cases, but complete karyotyping in 19 (56 per cent). No chromosomal aberration was found with the direct labelled probes 18 and 21 in FISH. Maternal contamination was assessed to be 5–10 per cent. This simple and easy-to-master technique is very effective in obtaining fetal cells early in pregnancy for genetic diagnosis, especially by FISH. However, the safety of the procedure must be tested in ongoing pregnancies.