Screen-positive rate in cell-free DNA screening for microdeletion 22q11.2

Objective

To examine the impact of the fetal fraction (FF) on the screen-positive rate in screening for microdeletion 22q11.2.

Methods

This study is based on samples that were analyzed using the Harmony® Prenatal Test (Roche Inc). The study cohort comprised samples from women with singleton pregnancies who were at least 16 years old and at least at 11 weeks' gestation. Logistic regression analysis was used to determine significant covariates that carry an impact on the screen-positive rate.

Results

The study population consisted of 52,019 pregnancies, including 309 pregnancies with a high-risk result for microdeletion 22q11.2. Thus, the overall screen-positive rate was 0.59%. In the low-risk group, the FF was 10.1%, and in the high-risk group, it was 7.3%. Regression analysis indicated a strong correlation between the FF and the screen-positive rate. In the cases with an FF of <11.0%, the screen-positive rate was 0.92%, while it was 0.13% in the group with a higher FF.

Conclusion

The screen-positive rate depends on the FF. In order to keep the rate low, we recommend restricting the analysis to samples with a FF of 11% and more.     

Projected declines in global DHA availability for human consumption as a result of global warming

Ambio - Docosahexaenoic acid (DHA) is an essential, omega-3, long-chain polyunsaturated fatty acid that is a key component of cell membranes and plays a vital role in vertebrate brain function. The...     

Process hazards review applied to the use of anhydrous ammonia in agriculture: an example of chemical process safety for small business

Process hazards review (PHR) techniques have generally been applied by large, sophisticated companies in the nuclear, aerospace, and chemical process industries. There remains, however, a large population of smaller distributors and consumers of hazardous materials which could benefit equally from the application of PHR. These consumers unfortunately are generally less sophisticated and individually lack the necessary resources required to apply such state-of-the-art safety techniques.

Where common processes can be identified, it is possible to conduct a more generic PHR that will provide a sound technical basis for recognizing and preventing the development of hazards wherever these processes are used. Some facility-specific issues will always need to be considered, but the existence of the generic PHR should make the conduct of a PHR by each facility considerably easier and less costly.

Researchers from the National Institute for Occupational Safety and Health (NIOSH) contracted with DNV Technica Inc. to lead a hazard and operability study (HAZOP) of agricultural handling of anhydrous ammonia, from the receipt of ammonia at the retail distribution centre to the application of the ammonia by farmers to the fields. The multidisciplinary HAZOP team consisted of representatives from NIOSH, an agricultural chemical trade association, an ammonia producer, state ammonia facility inspectors, a retail distributor, and an equipment manufacturer. Several participants were part-time farmers with ammonia application experience.

Some specific aspects of applying the HAZOP technique in the context of this study, the findings obtained, and the plans to disseminate the important safety information developed during the course of the PHR are discussed. Finally, it is suggested that this approach could prove to be a useful addition to the product stewardship activities of chemical producers.     

Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up

An apparently normal female infant was born after the prenatal diagnosis of fragile Xq27×28 present in about 4 per cent of amniocytes. The mildly retarded mother had been found in early pregnancy to be heterozygous for fragile X. The child, now 9 months old. showed about the same level of fragile X expression as her mother. Variations in the proportion of cells with fragile X appeared to be related to cell type and laboratory techniques. The infant's growth and development have been normal. Different techniques to induce or increase the expression of fragile X are discussed.     

Oviposition by butterflies on young leaves: Investigation of leaf volatiles

Summary Various butterflies select young foliage on which to lay their eggs; volatiles emitted by young and old leaves have been compared (by sorption enrichment, followed by GC-MS) to gauge possible qualitative and quantitative differences between the two age groups. The plants investigated are cabbage (Brassica oleracea), two milkweeds (Asclepias syriaca andA. curassavica), the bitter orange (Citrus aurantium) and the lime (C. aurantiifolia). The chemical compounds identified belong to three classes, isoprenoids, fatty acid derivatives and benzenoids. Quantitative differences were found between young and old leaves, of which a few may be characteristic of young leaves only. Thirty-four single trials withDanaus plexippus exposed to volatiles from young and old leaves are recorded.     

Trisomy 5 mosaicism detected prenatally with an affected liveborn

This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue-limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.     

Rating child passenger safety laws relative to best practice recommendations for occupant protection

Background: State laws regarding child passenger protection vary substantially.

Objectives: The objective of this study was to develop a scoring system to rate child passenger safety laws relative to best practice recommendations for each age of child.

Methods: State child passenger safety and seat belt laws were retrieved from the LexisNexis database for the years 2002–2015. Text of the laws was reviewed and compared to current best practice recommendations for child occupant protection for each age of child.

Results: A 0–4 scale was developed to rate the strength of the state law relative to current best practice recommendations. A rating of 3 corresponds to a law that requires a restraint that is sufficient to meet best practice, and a rating of 4 is given to a law that specifies several options that would meet best practice. Scores of 0, 1, or 2 are given to laws requiring less than best practice to different degrees. The same scale is used for each age of child despite different restraint recommendations for each age. Legislation that receives a score of 3 requires rear-facing child restraints for children under age 2, forward-facing harnessed child restraints for children aged 2 to 4, booster seats for children 5 to 10, and primary enforcement of seat belt use in all positions for children aged 11–13. Legislation requiring use of a “child restraint system according to instructions” would receive a score of 1 for children under age 2 and a 2 for children aged 2–4 because it would allow premature use of a booster for children weighing more than 13.6 kg (30 lb).

Conclusions: The scoring system developed in this study can be used in mathematical models to predict how child passenger safety legislation affects child restraint practices.     

Spondyloarthropathy in vertebrae of the aquatic Cretaceous snake <Emphasis Type="Italic">Lunaophis aquaticus</Emphasis>, and its first recognition in modern snakes

Inflammatory arthritis is documented for the first time in snakes. Ossification of the intervertebral capsule and zygapophyseal joints resulting in segmental vertebral fusion was observed in the aquatic Cretaceous snake Lunaophis aquaticus. Such pathologic alterations are pathognomonic for the spondyloarthropathy form of inflammatory arthritis. A survey of 2144 snakes in recent collections, performed to identify Holocene prevalence, revealed only two occurrences in extant snakes. The findings in Bitis gabonica and Elaphe taeniura were indistinguishable from those noted in Lunaophis aquaticus and identical to those previously recognized in modern varanids. The pathology likely represents a form of reactive arthritis related to enteropathic infection. While the disease probably did not affect general locomotion, its vertebral column position may have compromised mating.