A comparative study of prenatal ultrasound findings and post-mortem examination in a tertiary referral centre

This retrospective study compares the findings of prenatal ultrasound, performed in a tertiary fetal medicine centre, with the results of post-mortem examination in pregnancies complicated by suspected fetal abnormality that results in fetal loss. The study was carried out over a year at a teaching hospital, Fetal Medicine Centre and Regional Centre for Perinatal Pathology. Results were directly compared and the level of agreement between the ultrasound and post-mortem findings described. These were classified as having complete agreement; major agreement or major disagreement. The group of cases with major agreement between findings was further divided into those with significant, or minor, additional findings at post-mortem examination. Over the 12-month period, 153 ultrasound cases were identified, of which 47 were also examined by autopsy and were thus suitable for comparison in this study (30.7%). Complete agreement between ultrasound and post-mortem findings was found in 22 cases (46.8%). In 24 cases (51.1%), major agreement between ultrasound and post-mortem findings was seen. Of these, 11 had minor additional findings at post-mortem examination and 13 were found to have significant additional findings at post-mortem (27.7%), adding to the eventual diagnosis. In 12.8% of cases, post-mortem examination provided a definitive diagnosis. Only in one case was there complete discordance in the findings of the ultrasound examination and the autopsy (2.1%). No major disagreement between ultrasound and post-mortem findings was seen in 98% of cases. This study confirms the accuracy of prenatal ultrasound diagnosis in specialist centres, whilst emphasising the continuing importance of post-mortem examination in cases of fetal malformation to refine and, in some cases, define the diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysis

Fetal obstructive bowel disease was diagnosed in 29 patients at 22–37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69, XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic ‘double bubble’ sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20).     

Estimating the risk of a fetal autosomal trisomy at mid-trimester using maternal serum alpha fetoprotein and age: A retrospective study of 142 pregnancies

Risks appropriate for mid-trimester prenatal screening for autosomal trisomies have been estimated from a combination of maternal age and maternal serum (MS) alpha-fetoprotein (AFP) levels at 16–20 weeks gestation. Published data on the frequency of Down's syndrome births relative to maternal age were modified to include the additional age-related frequency of trisomy 18 and trisomy 13 cases to provide an overall risk for an autosomal trisomy at midtrimester. MSAFP results from a retrospective study of 142 affected (114 trisomy 21, 19 trisomy 18, and 9 trisomy 13)and 113 000 unaffected pregnancies were converted to multiples of the appropriate gestational median (MOM). The AFP levels in the autosomal trisomy pregnancies were found to be significantly reduced at 0.72 MOM of the unaffected pregnancies. Risks (likelihood ratios) were derived from the overlapping log Gaussian distributions for affected and unaffected pregnancies and combined with maternal age risks to give the overall odds of an affected pregnancy. A mid-trimester cut-off risk of 1:280 gave an estimated 37 per cent detection rate for autosomal trisomies in the west of Scotland population for a follow-up (false-positive) rate of 6.6 per cent. These figures compare with a 30 per cent detection and 6.7 per cent false-positive rate if age 35 years and over is used as the sole criterion for selection of at-risk pregnancies.     

Preterm delivery rate and fetal outcome in structurally affected twin pregnancies: A retrospective matched control study

Data from 23 twin pregnancies with one structurally affected fetus were compared with data from 23 twin pregnancies with proven absence of structural fetal anomalies and matched for maternal age, parity, and year of delivery. The preterm delivery rate ( < 37 weeks) was high in both groups but not significantly different (57 vs. 48 per cent). Perinatal mortality was significantly higher in the structurally affected twin pregnancies (65 vs. 9 per cent). In the affected twins, birth weight of the anomalous fetus was significantly lower than that of the normal co-twin. Since there was no difference in the incidence of maternal disease (hypertensive disorders, diabetes), it was concluded that the higher perinatal mortality was determined mainly by the nature of the anomaly and not by the preterm delivery rate.     

Fetal choroid plexus cysts and trisomy 18: Assessment of risk based on ultrasound findings and maternal age

This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as well as data from published series were used. It was calculated that the prevalence of CPCs in the general population is approximately 1 per cent and at mid-gestation the incidence of CPCs in fetuses with trisomy 18 is approximately 50 per cent. In the 387 fetuses with CPCs, the incidence of trisomy 18 increased with maternal age and the likelihood ratio for trisomy 18 increased with the number of additional abnormalities, from 0·03 for those with isolated CPCs to 0·4 if there was one additional abnormality and 20·5 if there were two or more additional abnormalities. It was concluded that if the cysts are apparently isolated, the risk for trisomy 18 is only marginally increased and maternal age should be the main factor in deciding whether or not to offer fetal karyotyping. If one additional abnormality is found, the maternal age-related risk is increased, so that even for a 20-year-old the risk for trisomy 18 is at least as high as the risk for trisomy 21 in a 35-year-old. In this respect, it may be considered desirable to offer such patients the option of karyotyping.     

40 years of global environmental assessments: A retrospective analysis

This paper provides a retrospective analysis of global environmental assessment (GEA) processes and their changing character, focus and political context over the past 40 years. We examine how and why elements of organizational design, objectives, and the evolving political landscape have interacted and changed, with a view of informing the design and conduct of future processes. We find that the historical genesis of GEAs is closely connected to the emergence of environmental multilateralism. However, the prevailing conditions and assumptions which originally gave rise to the GEA concept have changed significantly over time, giving rise to an increasing demand for a focus on response options and policies. We also find that the epistemic and process complexity of GEAs has increased substantially, without a corresponding expansion in the magnitude and composition of GEA management teams. We suggest that developing analytical capacities for policy assessment as well as ensuring sufficient resources and tools to manage increasingly complex GEAs is essential to ensure their future relevance and success. This article is part of a special issue on solution-oriented GEAs.     

Prenatal diagnosis of citrullinaemia: Review of a 10-year experience including recent use of DNA analysis

Prenatal diagnosis of citrullinaemia has been accomplished by three different methods to date: (1) enzyme assay of cultured fetal cells; (2) quantification of citrullirie in amniotic fluid supernatant; and (3) incorporation of [¹⁴C]citrulline into protein by cultured fetal cells. Our laboratory has used these methods to perform prenatal diagnosis for 28 fetuses over a 10-year period. More recently, DNA polymorphisms were used for prenatal diagnosis by linkage analysis. Of the 28 fetuses studied, 23 were predicted to be unaffected, four were predicted to be affected, and results were conflicting in one case where [¹⁴C]citrulline incorporation erroneously indicated an affected fetus but linkage analysis correctly predicted an unaffected fetus. Because of low levels of enzyme activity in heterozygotes and in certain amniotic fluid cell types, biochemical diagnosis of citrullinaemia is complicated by the risk of false affected results, although [¹⁴C]citrulline incorporation is relatively reliable. When informative, linkage analysis is the preferable method for cases with a 25 per cent risk. The risk of false affected results makes prenatal diagnosis for cases with less than 25 per cent risk of questionable value.     

The imprecision in rates of down syndrome by 1-year maternal age intervals: A critical analysis of rates used in biochemical screening

Current algorithms to determine eligibility for prenatal cytogenetic diagnostic services depend critically on the accuracy and precision of the underlying rates of cytogenetic abnormality used in the calculations. We examine the maternal age-specific rates of Down syndrome livebirths in eight studies of European-origin populations, pooled rates from which are widely used for baseline calculations in biochemical screening. These studies vary significantly in such factors as methods of ascertainment of cases, likelihood of complete ascertainment, and methods of correction, if any, for underascertainment. Restriction of analysis to those two studies among the eight whose methods suggest the greatest likelihood of complete ascertainment for Down syndrome generates rates significantly higher than those in widespread use. Confidence intervals about previously reported and currently derived rates indicate that even with large-scale data, there is considerable residual uncertainty in derived rates.     

Transabdominal villus sampling in early second trimester: A safe sampling method for women of advanced age

Transabdominal chorionic villus sampling (TA-CVS) was performed in 707 viable singleton pregnancies to exclude chromosomal abnormalities. Maternal age ranged between 36 and 49 years (mean 37·9 years); gestational age varied between 10·2 and 18·3 weeks (mean 13·3 weeks). In 639 women (90·4 per cent), a sufficient amount of chorionic tissue (⩾ 10 mg) was obtained after one needle insertion; in 66 women (9·3 per cent) two insertions were needed. An abnormal chromosome pattern was established in 19 cases (2·9 per cent). Vaginal bleeding or spotting within 28 days after TA-CVS occurred in 11 cases (1·5 per cent). The completed follow-up of 678 chromosomally normal pregnancies showed an overall fetal loss rate of 2·6 per cent before 28 weeks. The overall perinatal mortality was 0·9 per cent. When relating fetal loss to gestational age at TA-CVS, this was 6·6 per cent in women sampled before 12 weeks against only 1·8 per cent after 12 weeks. At the same time, the percentage of fetal loss occurring within 2 weeks following the procedure was 75 and 30 per cent, respectively. It is suggested that these data reflect the decline in spontaneous abortion rate during this particular period of pregnancy. It is concluded that TA-CVS is an effective procedure which, when performed after the natural decrease of fetal loss, appears to be a safe option for women of advanced maternal age.     

Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.     

Exploration of relationships between phytoplankton biomass and related environmental variables using multivariate statistic analysis in a eutrophic shallow lake： A S-year study

Understanding the process of the changing phytoplankton patterns can be particularly useful in water quality improvement and management decisions. However, it is generally not easy to illustrate the interactions between phytoplankton biomass and related environmental variables given their high spatial and temporal heterogeneity. To elucidate relationships between them, in a eutrophic shallow lake, Taihu Lake, relative long-term data set of biotic and abiotic parameters of water quality in the lake were conducted using multivariate statistical analysis within seasonal periodicity. The results indicate that water temperature and total phosphorus （TP） played governing roles in phytoplankton dynamics in most seasons （i.e. temperature in winter, spring and summer; TP in spring, summer and autumn）; COD （chemical oxygen demand） and BOD （biological oxygen demand） presented significant positive relationships with phytoplankton biomass in spring, summer and autumn. However, a complex interplay was found between phytoplankton biomass and nitrogen considering significant positive relationships occurring between them in spring and autumn, and conversely negative ones in summer. As the predatory factor, zooplankton presented significant grazing-pressure on phytoplankton biomass during summer in view of negative relationship between them in the season. Significant feedback effects of phytoplankton development were identified in summer and autumn in view that significant relationships were obser,qed between phytoplankton biomass and pH, Trans （transparency of water） and DO. The results indicate that interactions between phyto：plankton biomass and related environmental variables are highly sensitive to seasonal periodicity, which improves understanding of different roles of biotic and abiotic variables upon phytoplankton variability, and hence, advances management methods for eutrophic lakes.     

Exploration of relationships between phytoplankton biomass and related environmental variables using multivariate statistic analysis in a eutrophic shallow lake:A 5-year study

Understanding the process of the changing phytoplankton patterns can be particularly useful in water quality improvement and management decisions.However,it is generally not easy to illustrate the interactions between phytoplankton biomass and related environmental variables given their high spatial and temporal heterogeneity.To elucidate relationships between them,in a eutrophic shallow lake,Taihu Lake,relative long-term data set of biotic and abiotic parameters of water quality in the lake were conducted using multivariate statistical analysis within seasonal periodicity.The results indicate that water temperature and total phosphorus(TP)played governing roles in phytoplankton dynamics in most seasons(i.e.temperature in winter,spring and summer; TP in spring,summer and autumn); COD(chemical oxygen demand)and BOD(biological oxygen demand)presented significant positive relationships with phytoplankton biomass in spring,summer and autumn.However,a complex interplay was found between phytoplankton biomass and nitrogen considering significant positive relationships occurring between them in spring and autumn,and conversely negative ones in summer.As the predatory factor,zooplankton presented significant grazing-pressure on phytoplankton biomass during summer in view of negative relationship between them in the season.Significant feedback effects of phytoplankton development were identified in summer and autumn in view that significant relationships were observed between phytoplankton biomass and pH,Trans(transparency of water)and DO.The results indicate that interactions between phytoplankton biomass and related environmental variables are highly sensitive to seasonal periodicity,which improves understanding of different roles of biotic and abiotic variables upon phytoplankton variability,and hence,advances management methods for eutrophic lakes.     

A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes,identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.