Serum PAPP-A and free β-hCG are first-trimester screening markers for down syndrome

Serum measurements of pregnancy-associated plasma protein A (PAPP-A) and the free β-human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP-A measurements (0·31 MOM, 95 per cent confidence interval (CI) 0·22–0·65 vs. normal 1·06, 95 per cent CI 0·89–1·20) were lower and free β-hCG subunit measurements (1·13 MOM, 95 per cent CI 0·93–2·63 vs. normal 0·91, 95 per cent CI 0·79–1·03) were higher at statistically significant levels. Receiver operator characteristic (ROC) curves showed that the highest sensitivity for detection, 71·2 per cent (95 per cent CI 54·7–87·6 per cent), was for depressed PAPP-A levels; the combination of low serum PAPP-A levels, maternal age, and elevated free β-hCG levels yielded a detection rate of 78·9 per cent (95 per cent CI 64·9–92·8 per cent) of the affected pregnancies at 8–12 weeks' gestation.     

A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases

One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow-up studies in liveborns should include a culture from urine sediment.     

Effects of Oxalis pes-caprae L. invasion in olive groves

The present work aimed at studying the effect of Oxalis pes-caprae invasion in the herbaceous understory of olive groves in the island of Lesvos, Greece. The number of species, their biomass and dead plant material production was followed throughout the vegetative period in invaded and non-invaded plots. Species richness in the area invaded by O. pes-caprae gradually declined and was significantly smaller in comparison with the natural vegetation. Although biomass was equal in the invaded and non-invaded areas 1 month after germination, annual net primary production (NPP) was three times smaller in the invaded than the non-invaded area. Moreover, aboveground dead plant material of O. pes-caprae decomposed faster than a mixture of litter species of the natural vegetation. Lower biomass production in combination with increased decomposition rates of O. pes-caprae is expected to lead to reduced soil C sequestration in invaded areas. It was concluded that although O. pes-caprae does not add a new life form or functional type to the invaded herbaceous system it has considerable impacts on the diversity and ecosystem functions in olive groves.     

Evaluation of prenatal diagnosis of congenital heart disease

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131 760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four-chamber view, to perform scans at ⩾ 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.     

High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole

A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first report of combined elevation of MSAFP and MShCG.     

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.     

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12 , 263–270, 1992), considering the period 1979–1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentatge of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).     

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish

In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.     

Changes in gonadal development,androgenic gland cell structure,and hemolymph vitellogenin levels during male phase and sex change in laboratory-maintained protandric shrimp, <Emphasis Type="Italic">Pandalus hypsinotus</Emphasis> (Crustacea: Caridea: Pandalidae)

Most pandalid shrimps show protandric hermaphroditism, and male sexual differentiation is considered to be controlled by the androgenic gland. In the present study, we examined the histology of gonadal development during the male phase and sex change and the involvement of the androgenic gland in regulating male reproduction in laboratory-maintained Pandalus hypsinotus. Juvenile shrimps developed testicular tissues in the peripheral part of gonads during the age of 16–31 months and produced spermatozoa between 34 and 36 months. After reaching sexual maturity, male shrimps exhibited seasonal testicular development: active production of spermatozoa (February–May), disappearance of spermatozoa (spent, April–June), increase of spermatocytes (May–November), appearance of spermatids and spermatozoa in the gonads (November–February). The androgenic gland cells became larger and the rough endoplasmic reticulum in the cytoplasm developed at male sexual maturity. The cell structure shows that the androgenic gland hormone is a peptide. Furthermore, bilateral eyestalk ablation on immature male shrimps induced hypertrophy of the androgenic gland and acceleration of male sexual maturation. These results indicate the involvement of androgenic gland hormone and some eyestalk factor in regulating male sexual maturation. Over a 1-year laboratory-rearing period, some male shrimps (16.7%) changed sex. In transitional shrimps, testicular tissues in the gonads and androgenic glands degenerated; on the other hand, oocytes started yolk protein accumulation and hemolymph vitellogenin levels became high. These results suggest that androgenic gland degeneration is a trigger for sex change and that the vitellogenin level is a useful marker for sex change.     

Effect of epibionts on the microdistribution of chlorophyll in corals and its detection by fluorescence spectral imaging

The spatial distribution of chlorophyll in three coral species carrying invertebrate symbionts was determined using spectral imaging techniques. From each pixel of the image, full fluorescence spectral data was obtained as well as comparative ratios of fluorescence. The multipixel fluorescence map and the relative-intensity fluorescence ratios demonstrated a high concentration of chlorophyll a next to the pits of Cryptochirus coralliodytes in Favites halicora. Spectral similarity maps of Goniastrea retiformis infested with Lithophaga lessepsiana and of Millepora dichotoma infested with Savignium milleporum revealed relatively higher chlorophyll concentrations in these two corals next to the symbionts. We hypothesize that the invertebrate symbionts fertilize their immediate surroundings with their excreta, enhancing algal growth. The spectral analysis system used in this study made it possible to distinguish such changes by spatial quantitation of the fluorescence emitted from small surface areas.