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.     

Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS

In 2103 consecutive diagnostic chorionic villus samples, examined in a 4-year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long-term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow-up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.     

Trisomy 20 mosaicism in prenatal diagnosis–a review and update

A total of 66 cases with prenatal diagnosis of trisomy 20 mosaicism was reviewed. Since the majority of cases (85 per cent) was associated with grossly normal phenotype and the abnormalities noted in 15 per cent of cases were inconsistent and rather non-specific, no causal relationship between trisomy 20 mosaicism and a specific malformation syndrome can be established. The possiblity of an association between an abnormal phenotype and a high percentage of trisomy 20 cells (> 60 per cent) must be considered preliminary and be viewed with caution. The fact that cells with trisomy 20 have not been recovered from blood cultures and were detected more frequently from specific fetal tissues, (such as kidney, rectum, oesophagus), and from placental tissues, suggests that trisomy 20 is more likely to be confined to certain fetal organs and to extra-embryonic tissues. This review calls for the collection of more data on all cases of trisomy 20 mosaicism diagnosed prenatally, in order to provide more accurate information to the prospective parents.     

Succession of aquatic microbial communities as a result of the water quality variations in continuous water

The changes of structural and functional parameters of aquatic microbial communities in continuous water on campus of Tsinghua University, China are investigated by polyurethane foam unit(PFU) method. The measured compositions of the communities include alga, protozoa, and some metazoa (such as rotifers). The measured indicators of water quality include water temperature, pH value, dissolved oxygen (DO), potassium permanganate index(CODMn), total nitrogen(TN), total phosphorus(TP) and chlorophyll- a(Chla). The trophic level, expressed by the trophic level indices(TL/c), is assessed with analytic hierarchy process and principal component analysis (AHP-PCA) method. The changing trends of the structural and functional parameters of aquatic microbial communities, such as Margalef index of diversity(D), Shannon-weaver index of diversity (H), Heterotropy index (HI), number of species when the colonization gets equilibrium(Seq), colonizing speed constant(G) and time spent when 90 percent of Seq colonized in PFU ( T90% ), are also analyzed. The experimental results showed the succession of aquatic microbial communities along the water flow is consistent with the water quality changes, so the parameters of microbial community can reflect the changes of water quality from the ecological view.     

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism

About 2 per cent of specimens from chorionic villus sampling (CVS) analysed either on direct preparation of cytotrophoblast cells or afterculture of mesenchymal stroma reveal confined placental mosaicism (CPM), most commonly involving chromosomal trisomy. A significantly higher rate of prenatal loss (22 per cent) as well as the presence of intrauterine growth retardation (IUGR) has been reported among pregnancies with CPM. To evaluate more precisely the effect of these aneuploid cell lines confined to the placenta on intrauterine fetal growth and fetal survival, we have studied 34 term placentae from pregnancies with CPM diagnosed on CVS and confirmed identical mosaicism in 17 of these placentae. There was a direct correlation between a high number of aneuploid cells present at CVS and a high likelihood of their detection in term placenta. Also, the proportion of aneuploid cells in the mosaic term placentae correlated with that observed in CVS specimens. Among 17 gestations with confirmed CPM at delivery, there were six cases of IUGR identified, five in liveborns and one associated with intrauterine death.     

Rates of accumulation of cadmium and uranium in a New Zealand hill farm soil as a result of long-term use of phosphate fertilizer

In New Zealand, phosphate (P) fertilisers used in agriculture are the main sources of the potentially toxic elements cadmium (Cd) and uranium (U), which occur as unwanted contaminants. New Zealand is developing draft soil guideline values (SGV) for maximum concentrations of Cd. To assess when soils under pasture for sheep production might reach a particular SGV, we analysed archived soil samples from a 23 yr P fertiliser trial. The pasture sites were at Whatawhata, North Island, New Zealand, and had received P fertiliser at the rates of 0, 30, 50 and 100 kg P ha⁻¹ yr⁻¹. From 1983 to 1989, P was applied as single superphosphate, from 1989 to 2006, P was applied as triple superphosphate. Soils from replicate paddocks were sampled annually to a depth of 75 mm on easy (10-20°) and steep (30-40°) slope classes. Total P, Cd and U were analysed by ICP-MS after acid digestion. Data were analysed by fitting trend lines using linear mixed models for two slope classes and for two sampling periods 1983-1989 and 1989-2006 when the soil sampling method and fertiliser type had been changed.The changes in total P, Cd and U were directly related to the type and amount of P fertiliser applied, the control treatment showed no significant change in P, Cd or U. At 50 and 100 kg P ha⁻¹ yr⁻¹ there were generally linear increases in total P and total U, and the same trend line applied to both time periods, but the rate of increase in P was greater on the easy slope class. For Cd, a “broken stick” model was needed to explain the data. Pre-1989, Cd increased in the 50 and 100 kg P ha⁻¹ yr⁻¹ treatment (0.036-0.045 mg kg⁻¹ yr⁻¹, respectively): post 1988 the rate of increase declined markedly on those two treatments (0.005-0.015 mg kg⁻¹ yr⁻¹, respectively), and declined absolutely in the 30 kg P ha⁻¹ yr⁻¹ treatments. The maximum content of Cd was in the 100 kg P ha⁻¹ yr⁻¹ treatment which reached 0.931 mg Cd kg⁻¹ on the easy slope. For U there were steady linear increases for the 30, 50 and 100 kg P ha⁻¹ treatments, and no significant difference between the steep and easy slopes, nor the two sampling periods, the maximum concentration obtained was 2.80 mg U kg⁻¹ on the 100 kg P ha⁻¹ treatment. The results suggest that at rates of P fertiliser likely to be applied to hill farms (<50 kg P ha⁻¹ yr⁻¹), and using P fertiliser with low Cd content, then the Cd concentration in this soil will never reach a SGV of 1 mg kg⁻¹.     

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.     

Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

Carbon accounting and forestry: a review of the subsequent papers

The papers in this publication are reviewed. It is concluded that there is a conflict between three approaches to carbon accounting. Scientific purists attempt to account for every carbon source, sink and reservoir. Pragmatic accountants concentrate on critical and easily quantifiable data, acknowledging that data-collection resources are limited. Thirdly, there are accountants whose greatest concern is international equity, so that no country or grouping (especially the one to which they belong!) is greatly disadvantaged. If genuine goodwill is absent, the conflict between these three approaches is likely to continue.     

Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism

The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.     

Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome

Premature centromere separation (PCS) was detected in amniocytes after an amniocentesis was done because of markedly elevated maternal serum alpha-fetoprotein values in a healthy primiparous young woman. PCS has been associated with the Roberts-SC phocomelia syndrome (RS). By 23 weeks' gestation, ultrasonic evaluations did not reveal abnormal fetal development. The pregnancy continued and a male infant was born with mild manifestations of RS. PCS was confirmed in cord blood lymphocytes. This case illustrates that PCS, when detected in amniotic fluid cell cultures, requires a thorough evaluation.     

The dilemma of a low rate of chromosomal mosaicism found in fetal blood sampling

We report a case in which mosaicism of trisomy 13 was detected in 4/10 cells (40 per cent) in amniotic fluid cell cultures, followed by a low rate of mosaicism (1/160 cells) detected in a fetal blood sample. This finding presents a dilemma both for the genetic counsellor and for the parents in determining whether or not to terminate the pregnancy.