Apparent non-mosaic trisomy 16 in chorionic villi: Diagnostic dilemma or clinically significant finding?

A case is presented in which apparent non-mosaic trisomy 16 was found in chorionic villi (direct and culture) obtained from a patient undergoing first-trimester prenatal diagnosis. The fetal karyotype subsequently was determined to be 46,XX by follow-up amniocentesis. Serial ultrasonographic examinations revealed placental sonolucencies and intrauterine growth retardation. At 37 weeks, a small-for-gestational-age female was delivered by Caesarean section for fetal distress. Postnatal cytogenetic studies revealed a normal female karyotype in cord blood and mosaic trisomy 16 in plaental tissues. These findings suggest that in cases where aneuploidy is confined to placental tissues, it may have biological significance, as evidenced by the apparent placental dysfunction and poor fetal growth in this case.     

The significance of trisomy 7 mosaicism in chorionic villus cultures

Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the CVS were 46, XY. Culture metaphases were mos46,XY/47,XY, + 7; the trisomy 7 was seen in 34 per cent of cells from case 1 and 53 per cent from case 2. A sonogram at 15¹/₂ weeks revealed fetal death in utero in case 1, and the patient declined amniocentesis. The fetal tissue failed to grow in culture, but the placental cultured cells were 47,XY, + 7 in 28 (100 per cent) cells analysed. In the second case, all the amniotic fluid cells were 46,XY and the pregnancy resulted in a normal male with a 46,XY karyotype in the cord blood and foreskin fibroblast cultures. The term placenta was mosaic with 13/163 (8 per cent) trisomy 7 cells. Extensive cytogenetic studies on the placenta for the first time confirmed trisomy 7 mosaicism confined to the villus cultures.     

The dilemma of chromosomal mosaicism in chorionic villus sampling—‘direct’ versus long-term cultures

Chromosomal mosaicism is one of several unanswered dilemmas in first-trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long-term CVS culture, and low-rate trisomy 21 mosaicism in a second long-term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low-rate mosaicism in different tissues may be indicative of the true status of the fetus.     

Prenatal detection of trisomy 9 mosaicism

Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism—an inconsequential tissue culture artefact; or (2) true mosaicism—occurring in approximately 0.0 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, + 9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.     

Relationships of ozone formation sensitivity with precursors emissions, meteorology and land use types, in Guangdong-Hong Kong-Macao Greater Bay Area, China

Due to the influences of precursors emissions, meteorology, geography and other factors, ozone formation sensitivity (OFS) is generally spatially and temporally heterogeneous. This study characterized detailed spatial and temporal variations of OFS in Guangdong-Hong Kong-Macao Greater Bay Area (GBA) from 2012 to 2016 based on OMI satellite data, and analyzed the relationships of OFS with precursors emissions, meteorology and land use types (LUTs). From 2012 to 2016, the OFS tended to be NO_x-limited in GBA, with the value of FNR (HCHO/NO₂) increasing from 2.04 to 2.22. According to the total annual emission statistics of precursors, NO_x emissions decreased by 33.1% and VOCs emissions increased by 35.2% from 2012 to 2016, directly resulting in OFS tending to be NO_x-limited. The Grey Relation Analysis results show that total column water (TCW), surface net solar radiation (SSR), air temperature at 2 m (T2) and surface pressure (SP) are the top four meteorological factors with the greatest influences on OFS. There are significant positive correlations between FNR and T2, SSR, TCW, and significant negative correlations between FNR and SP. In GBA, the OFS tends to be NO_x-limited regime in wet season (higher T2, SSR, TCW and lower SP) and VOCs-limited regime in dry season (lower T2, SSR, TCW and higher SP). The FNR displays obvious gradient variations on different LUTs, with the highest in “Rural areas”, second in “Suburban areas” and lowest in “Urban areas”.     

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns

Two phenotypically abnormal liveborns in whom trisomy 16 mosaicism was diagnosed prenatally by amniocentesis are described. Analysis of a percutaneous umbilical blood sample in one case revealed a normal chromosomal complement. Ultrasound examinations performed at the time of amniocentesis were normal. Serial sonography during the late second and third trimesters demonstrated progressive intrauterine growth retardation (IUGR) in both fetuses and a cardiac defect in one. At birth, both infants had dysmorphic features and multiple congenital anomalies. Trisomy 16 mosaicism was confirmed postnatally in both infants in skin fibroblasts; however, peripheral blood samples contained only chromosomally normal cells. The two mosaic trisomy 16 cases described in this report, together with the five confirmed cases reported previously, demonstrate the need for caution in the counselling of patients when trisomy 16 mosaicism is diagnosed prenatally in amniotic fluid samples. Such cases potentially can result in the birth of dysmorphic infants with significant birth defects, growth retardation, and possible developmental disabilities.     

Sustainability through system transformation: lessons from Finnish efforts

This special issue of the Journal of Cleaner Production addresses system transformation by examining progress, stumbling blocks and opportunities for sustainable consumption and production in a specific country, Finland, set within a global context. The articles present and analyse top-down policy efforts, bottom-up efforts by municipalities, activities by companies and actions by consumers. They provide material for discussions on the shift from sustainability planning to enhancing system transformation, on the implications of globalisation for system boundaries, on the transformation of complex systems, on learning processes and on methods of assessing transitions. Without providing a singular solution, the articles show that issues of sustainability should be explored in different ways within different contexts, and experimented with. There is a continuous need for transformations and reflexive learning, since conditions are likely to become very different, not least due to climate change. The notion of change and transformation will be high on the agenda of the Rio+20 conference, as will similar efforts to promote large-scale transformations of consumption and production.     

Damos: Twenty Years of Dredged Material Disposal Site Monitoring. Isn'st That Enough?

Since 1977, the US Army Corps of Engineers Disposal Area Monitoring System (DAMOS) has monitored New England's offshore dredged material disposal sites. DAMOS has shown that by using monitoring information to make management decisions, open water disposal of dredged sediments is possible with minimal environmental impact. Over the past two decades, DAMOS has answered many of the key questions about dredged material impacts. Yet the need for such a programme remains strong from both the technical and public interest perspectives. the programme continues to monitor projects that are extending our knowledge in the areas of deeper water capping, geotechnical behaviour of capping and capped materials, and biological response to contaminants. These investigations, along with the need for specific disposal site surveys, will continue to provide valuable technical information needed by the public, policy makers, and regulators to make critical decisions on dredged sediment management.