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.     

Speaking up and moving up: How voice can enhance employees' social status

A central argument in the literature on employee voice is that speaking up at work carries image risk. Challenging this assumption, we propose that voice can in fact positively affect how employees are viewed by others, thereby enhancing their social status. Using theory on status attainment and the fundamental social perception dimensions of agency and communion, we suggest that employee voice will result in higher status evaluations by increasing the extent to which an employee is judged as confident/competent (agency) and other‐oriented/helpful (communion). We conducted a survey study and two experiments to test these hypotheses. The results supported our predictions. Employees who voiced were ascribed higher status than those who did not, and this effect was mediated by judgments of agency (in all three studies) and communion (in two studies). These results highlight the implications of voice behavior for status enhancement within organizations.     

Institutional capacity for long-term climate change adaptation: evidence from land use planning in Albay,Philippines

Mainstreaming climate change adaptation (CCA) into plans and programs is still a new approach in adaptation and thus there is limited information on how to operationalize it on-ground. This paper addresses this gap by investigating the challenges in mainstreaming CCA into the local land use plans in the province of Albay, Philippines. Specifically, this paper developed 20 quantitative “mainstreaming indicators” to assess the state-of-play and the challenges for local mainstreaming. These indicators were classified under three groupings, namely, the information, institutional, and resource capacities of systems. Qualitative analysis of the indicator scores suggested that developing the institutional capacities of local governments is crucial in the local mainstreaming process. Likewise, the results highlighted the “institutional issues” indicator as the primary barrier in operationalizing the approach. These institutional issues are: fragmented laws and regulations; overlapping policy requirements; and the lack of guidelines for mainstreaming CCA into the local land use plans. Meanwhile, the “leadership” indicator, as signified by a climate change champion in Albay, was evaluated as an opportunity for local mainstreaming. The champion effectively led the CCA efforts because the existing institutional mechanisms supported the champion’s capacity to influence the behavior of people and produce collective action towards CCA.