Identification of triploid trophoblast cells in peripheral blood of a woman with a partial hydatidiform molar pregnancy

In a woman with a partial hydatidiform molar pregnancy with 69,XXY karyotype, the presence of male fetal cells of trophoblastic origin was demonstrated in maternal blood by X/Y-chromosome specific PCR and by immunostaining combined with FISH on two cell populations isolated from maternal blood. Blood was obtained three weeks prior to the detection of fetal demise, at 13 weeks' gestation. Results were confirmed on formalin-fixed paraffin-embedded molar tissue, removed at 16 weeks' gestational age for therapeutic reasons. The results indicate that both plasma and cells from maternal peripheral blood might be useful for non-invasive prenatal diagnosis of fetal aneuploidies, as described in the current case with a partial molar pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

A reactor system combining reductive dechlorination with cometabolic oxidation for complete degradation of tetrachloroentylene

A laboratory sequential anaerobic-aerobic bioreactor system, which consisted of an anaerobic fixed film reactor and two aerobic chemostats, was set up to degrade tetrachloroethylene (PCE) without accumulating highly toxic degradation intermediates. A soil enrichment culture, which could reductively dechlorinate 900/zM ( ca. 150 mg/L) of PCE stoichiometrically into cis-l, 2-dichloroethylene ( cis-DCE), was attached to ceramic media in the anaerobic fixed film reactor. A phenol degrading strain, Alcaligenes sp. 115, which can efficiently degrade cis-DCE by co-metabolic oxidation, was used as inocuhim for the aerobic chemostats consisted of a transformation reactor and a growth reactor.The anaerobic fixed film bioreactor showed more than 99 % of PCE transformation into cis-DCE in the range of influent PCE concentration from 5μM to 35μM at hydraulic retention time of 48h. On the other hand, efficient degradation of the resultant cis-DCE by strain R5 in the following aerobic system could not be achieved due to oxygen limitation. However, 54% of the maximum cis-DCE degradation was obtained when 10μmol of hydrogen peroxide (H2O2 ) was supplemented to the transformation reactor as an additional oxygen source. Further studies are needed to achieve more efficient co-metabolic degradation of cis-DCE in the aerobic reactor.     

A reactor system combining reductive dechloirnation with cometabolic oxidation for complete degradation of tetrachloroentylene

A laboratory sequential anaerobic aerobic bioreactor system, which consisted of an anaerobic fixed film reactor and two aerobic chemostats, was set up to degrade tetrachloroethylene (PCE) without accumulating highly toxic degradation intermediates. A soil enrichment culture, which could reductively dechlorinate 900μM (ca. 150 mg/L) of PCE stoichiometrically into cis-1,2-dichloroethylene ( cis-DCE), was attached to ceramic media in the anaerobic fixed film reactor. A phenol degrading strain, Alcaligenes sp. R5, which can efficiently degrade cis-DCE by co metabolic oxidation, was used as inoculum for the aerobic chemostats consisted of a transformation reactor and a growth reactor. The anaerobic fixed film bioreactor showed more than 99 % of PCE transformation into cis DCE in the range of influent PCE concentration from 5μM to 35μM at hydraulic retention time of 48h. On the other hand, efficient degradation of the resultant cis-DCE by strain R5 in the following aerobic system could not be achieved due to oxygen limitation. However, 54% of the maximum cis-DCE degradation was obtained when 10 μmol of hydrogen peroxide (H₂O₂) was supplemented to the transformation reactor as an additional oxygen source. Further studies are needed to achieve more efficient co metabolic degradation of cis DCE in the aerobic reactor.     

Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy

We report a patient whose chorionic villus sampling showed a nonmosaic trisomy 13 [46,XX,der(13;13)(q10;q10)]. Subsequent amniocentesis and cordocentesis showed varying percentages of abnormal cells (77 and 78% in two amniocentesis; 14% in cordocentesis) and mosaic trisomy 13 was impressed. Prenatal fetal ultrasound scanning revealed only mild structural abnormalities (echogenic cardiac foci, transient lemon head, transient skin oedema). The mother chose to continue the pregnancy. Karyotyping of the cord blood, peripheral blood, umbilical cord, urine, and chorion were performed postpartum. The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], euploidy [46,XX], aneuploidy [46,XX,–13, +mar], and monosomy 13 [45,XX,–13] in the chorion at birth). The baby had survived beyond eight months of age at the time of submission. Few structural abnormalities except low-set ears, absence of the 12th rib, and cardiomegaly with ventricular septal defect, were noted postnatally. The growth reached 95th percentile at the age of one month. Development milestones were not delayed at serial evaluations. Her ventricular septal defect was corrected surgically at the age of six months. Karyotypes of her skin fibroblasts, blood lymphocytes, and cardiac tissue were all normal [46,XX] at the time of surgery. Difficulties of the genetic counseling are also discussed. Copyright © 2004 John Wiley & Sons, Ltd.     

Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy

The Jarcho–Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho–Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome

This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 22^5/7 weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 27^5/7 and 30^2/7 weeks a total of 9 l amniotic fluid was drained and at 30^4/7 weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency. Copyright © 2002 John Wiley & Sons, Ltd.     

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9, t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.     

Prenatal diagnosis of complete atrioventricular septal defect with truncus arteriosus

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography. Copyright © 2007 John Wiley & Sons, Ltd.     

A case study of industrial symbiosis development using a middle-out approach

Industrial symbiosis (IS) emerged as a collective, multi-industrial approach to improve economic and environmental performance through the use of wastes/by-products as substitutes for raw materials. The development of IS initiatives depends on the context in which they occur, characterised in terms of social, economic, political, spatial and temporal embeddedness. As a consequence, the context can be influenced to become more supportive of IS through a continuous, interactive process, combining top-down governmental directives and bottom-up spontaneous business initiatives. A strategy to develop and enhance this process is explored in this paper and described by the authors as a middle-out approach.Policies and policy instruments introduced by governmental agencies provide objectives and incentives to businesses. The middle-out approach induces the development of a strategy to create positive feedback loops among agents (e.g. government, industries) that may guide their actions into setting the conditions to support IS emergence.This paper provides a case study that discusses a regional development of IS in Portugal that highlights critical factors for success in implementing IS, and shows that the middle-out approach can also be understood as an extension and combination of previous research on context factors and planned/spontaneous approaches to IS development.     

Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20

Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analysis on cord blood revealed only a normal 46,XX karyotype. Microsatellite analysis of 27 chromosome 20 loci confirmed maternal UPD for all 11 informative markers. Maternal heterodisomy was detected in two and maternal isodisomy in three loci. In the remaining six loci, a non-informative maternal UPD pattern was displayed, as mother and proband are homozygous for the same allele. To our knowledge this is the first reported case of maternal disomy 20 with normal karyotype ascertained by a mosaic trisomy 20 pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

Hereditary multiple intestinal atresia—ultrasound findings and outcome of pregnancy in an affected case

A case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound scan of a healthy Caucasian primigravida from a non-consanguineous marriage. Amniocentesis was performed. The karyotype was normal male and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy and a simple bowel obstruction was suspected. The baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed during the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The baby died aged 4 days. Post-mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine together with areas of colonic atresia. Histology and distribution were consistent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the possibility of prenatal diagnosis in future pregnancies are discussed.