Prenatal detection of monosomy 21 mosaicism

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.     

Prenatal diagnosis of giant cystic hygroma: Prognosis,counselling, and management; case presentation and review of the recent literature

Cystic hygromas have historically been associated with a grim prognosis when discovered during prenatal sonographic study of the fetus. This same grim prognosis is not observed by the paediatric surgeon who evaluates the neonate or paediatric patient. We present a fetal patient with a massive anterior cystic hygroma discovered in the third trimester prior to 30 weeks. This case and a review of the literature suggest tailoring the prognosis by category when counselling patients: (1) first trimester, normal karyotype-good; (2) first trimester, abnormal karyotype-poor; (3) second trimester and early third-poor to guarded; and (4) mid to late third trimester-good.     

Transabdominal chorionic villus sampling in the second trimester of pregnancy: Feto-maternal transfusions in relation to pregnancy outcome

Volumes of feto-maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha-fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated.     

Oligohydramnios with amnio-chorionic separation at 15–16 weeks' gestation

Nine patients with oligohydramnios and amnio-chorionic separation were identified out of 7000 women who underwent a vaginal ultrasound examination at 15–16 weeks' gestation. Oligohydramnios was defined as a reduced amount of amniotic fluid, a distance of more than 1 cm between the chorion and amnion, and a good turgor of the amnion without floating membranes or intrauterine sheets. Fetal malformations were observed in all nine cases. In four of six fetuses where chromosomal analysis was available, an abnormal karyotype was found. It is concluded that oligohydramnios in the early second trimester is associated with fetal abnormality.     

Early second-trimester sonographic appearance of occipital haemangioma simulating encephalocele

Encephalocele is the most common cause of occipital midline extracranial mass associated with hydrocephalus. A case is presented where an occipital extracranial mass associated with hydrocephalus which was detected on second-trimester ultrasound examination turned out to be a haemangioma, a relatively benign lesion. We suggest that haemangioma should be considered in the differential diagnosis of extracranial masses detected prenatally.     

Antenatal sonographic diagnosis of arthrogryposis multiplex Congenita

Arthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30·5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case.     

Prenatal diagnosis of congenital my asthenia with arthrogryposis in a myasthenic mother

We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultra-sonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital rnyasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.     

Modeling Connectivity of Non‐floodplain Wetlands: Insights,Approaches, and Recommendations

Representing hydrologic connectivity of non‐floodplain wetlands (NFWs) to downstream waters in process‐based models is an emerging challenge relevant to many research, regulatory, and management activities. We review four case studies that utilize process‐based models developed to simulate NFW hydrology. Models range from a simple, lumped parameter model to a highly complex, fully distributed model. Across case studies, we highlight appropriate application of each model, emphasizing spatial scale, computational demands, process representation, and model limitations. We end with a synthesis of recommended “best modeling practices” to guide model application. These recommendations include: (1) clearly articulate modeling objectives, and revisit and adjust those objectives regularly; (2) develop a conceptualization of NFW connectivity using qualitative observations, empirical data, and process‐based modeling; (3) select a model to represent NFW connectivity by balancing both modeling objectives and available resources; (4) use innovative techniques and data sources to validate and calibrate NFW connectivity simulations; and (5) clearly articulate the limits of the resulting NFW connectivity representation. Our review and synthesis of these case studies highlights modeling approaches that incorporate NFW connectivity, demonstrates tradeoffs in model selection, and ultimately provides actionable guidance for future model application and development.     

“Are you still driving?” Metasynthesis of patient preferences for communication with health care providers

Aim: The aim of this study was to synthesize published qualitative studies to identify older adults' preferences for communication about driving with health care providers.

Background: Health care providers play a key role in addressing driving safety and driving retirement with older adults, but conversations about driving can be difficult. Guides exist for family members and providers, but to date less is known about the types of communication and messages older drivers want from their health care providers.

Design: A qualitative metasynthesis of studies published on or before October 10, 2014, in databases (PubMed, CINAHL, PsycINFO, and Web of Science) and grey literature was performed.

Review Methods: Twenty-two published studies representing 518 older adult drivers met the following inclusion criteria: the study (1) was about driving; (2) involved older drivers; (3) was qualitative (rather than quantitative or mixed methods); and (4) contained information on older drivers' perspectives about communication with health care providers.

Results: We identified 5 major themes regarding older adults' communication preferences: (1) driving discussions are emotionally charged; (2) context matters; (3) providers are trusted and viewed as authority figures; (4) communication should occur over a period of time rather than suddenly; and (5) older adults desire agency in the decision to stop driving.

Conclusion: Various stakeholders involved in older driver safety should consider older drivers' perspectives regarding discussions about driving. Health care providers can respect and empower older drivers—and support their family members—through tactful communication about driving safety and mobility transitions during the life course.     

Topsoil inversion as a restoration measure in sand dunes,early results from a UK field-trial

Over-stabilisation and eutrophication affect many dune systems in north-west Europe. This leads to lower diversity of typical dune species and an accumulation of soil nutrients. Existing management techniques to remove excess nutrients include mowing, with removal of cuttings, and turf stripping. A new restoration technique called topsoil inversion or deep ploughing may also be able to counter some of the negative effects of eutrophication. It simulates the burial of established soils with fresh mineral sand, by inverting the soil profile. A trial was carried out on two small blocks of eutrophic dune grassland in North Wales, UK. Nutrient-rich surface soils were buried beneath mineral sub-sand using a double-bladed plough, designed to plough to depths of up to 100 cm. Results show that the organic soil horizons were buried to a depth of 80 cm, and covered with 40–50 cm of mineral sand. The pH and organic matter of the surface layers became comparable to those of mobile dunes. Fifteen months after ploughing, bare sand cover was still 70–90%, but significant sand loss through wind erosion resulted in a thinning of the mineral sand over-burden, leaving the buried organic layer closer to the surface. Natural vegetation colonisation was slow, with the first surviving plants observed after 8 months. The majority of species present at 15 months were present before ploughing and had regenerated from rhizomes or root fragments. The effect of excluding disturbance caused by rabbits, people and dogs was assessed within fenced areas. After 11 months, vegetation cover was greater in the fenced areas than in plots exposed to disturbance, therefore disturbance replaced physical conditions as the dominant influence on plant growth and establishment. These early results suggest the trial has been partially successful, but that topsoil inversion could be combined with other methods such as turf stripping or by stabilisation of the ploughed surface by planting with pioneer species, depending on the ultimate restoration goal.