Monosomy 8q: Prenatal diagnosis and autopsy findings

The autopsy findings of a fetus with deletion of the long arm of chromosome 8 are described. Many of the features are similar to those of the tricho-rhino-phalangeal syndromes, types I and II, which are associated with deletions on chromosome 8q24. Other findings in this case, such as total absence of the corpus callosum and intestinal malrotation, have not been described in these syndromes. Genes involved in the development of the latter malformations may reside in adjacent regions on the long arm of chromosome 8. An elevated serum level of beta human chorionic gonadotropin (βhCG) was found during pregnancy. This aberration should be included with other chromosomal disorders which may be detected by this test.     

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.     

Maternal serum alpha-fetoprotein levels and fetal outcome in early second-trimester oligohydramnios

Early second-trimester oligohydramnios was associated with normal maternal serum alpha-fetoprotein (MSAFP) levels in nine out of 26 cases (35 per cent). Congenital malformations of the fetal urinary tract resulting in fetal anuria were present in nine cases; in seven of them, normal MSAFP levels were measured. In contrast, normal MSAFP levels were established in only 2 out of the 17 cases without fetal malformations. These data suggest that fetal urine is the major source of elevated AFP in the maternal compartment in early second-trimester oligohydramnios. This is further supported by the lack of any relationship between concentrations of MSAFP non-reactive with Concanavalin A, originating mainly from the yolk sacderived amniotic fluid AFP pool, and the presence of fetal diuresis. Three out of 26 women had experienced early second-trimester oligohydramnios in a previous pregnancy, suggesting the existence of a recurrence risk for this condition.     

Adverse perinatal outcome in patients screen-positive for neural tube defects and fetal down syndrome

An association between various abnormal mid-trimester maternal serum analyte values and adverse perinatal outcome has been reported. From an original sample of 14 857 women, we observed five women who were ‘screen-positive’ for both neural tube defects [maternal serum alpha-fetoprotein (MSAFP) ≥2·5 multiples of the median] and Down syndrome [risk ≥1/274 using MSAFP, maternal serum unconjugated oestriol (MSuE3), maternal serum human chorionic gonadotropin (MShCG), and maternal age]. The four patients who elected to undergo amniocentesis all demonstrated both normal karyotype and normal amniotic fluid AFP levels. All five cases were associated with intrauterine growth retardation (IUGR) and abnormal pregnancy outcomes. Two cases exhibiting severe IUGR on ultrasound examination were terminated at 19·1 and 21·2 weeks, respectively; the former also exhibited fetal calcifications and positive maternal serology for toxoplasmosis. In another case, fetal demise occurred at 36 weeks' gestation in a patient who had been treated for syphilis in the second trimester. Neither infection was confirmed in fetal tissue studies. Though resulting in live births, the remaining two cases required operative deliveries; emergency Caesarean sections for fetal distress were performed at 38 and 32 weeks, respectively, the latter case being associated with severe pre-eclampsia. We conclude that elevated mid-trimester MSAFP levels concurrent with maternal serum analyte values associated with increased risk for fetal Down syndrome may presage a poor perinatal outcome, particularly IUGR and possibly congenital infection.     

Local likelihood disease clustering: development and evaluation

This paper illustrates a method based on local likelihood (LL) for detecting disease clusters. The approach is based on estimating a lasso distance for each region: within which regions are considered to be clustered. An important advantage in implementing this approach is that it does not require any special Monte Carlo Markov Chain (MCMC) algorithm, e.g., reversible jump MCMC, which is essential in hidden Markov model approach. Another advantage is that extending the model to incorporate covariates is straightforward. We illustrate three ways of doing this by using Eastern Germany lip cancer data. By using simulated data, we have made a comparison with the BYM model [Besag et al. (1991) Annals of the Institute of Statistical Mathematics, 43, 1–59] and the mixture model [Lawson and Clark (2002) Disease Mapping and Risk Assessment for Public Health, Chapman and Hall]. We also did a limited examination of the ability of the LL model to recover true relative risk under different priors for lasso parameter. In order to check the edge effects, which has been overlooked in many spatial clustering models for disease mapping but deserves special attention as it lacks observable neighbors, we have adapted here a simple approach to observe the changes in relative risks when the edge regions are omitted. An erratum to this article is available at .     

MHC, health, color, and reproductive success in sand lizards

Good genes are genetic elements that contribute to lifetime reproductive success, regardless of an individuals additional genotype. Their existence is debated, and most work has targeted their viability benefits to the offspring of choosy females. In the present study, we analyze a case of potential good genes effects in adult male sand lizards (Lacerta agilis). We show that males with a particular RFLP (Restriction Fragment Length Polymorphism) MHC genotype (O-males), as opposed to those that lack this genetic element (NO-males), have less ectoparasites under increasing physiological stress (indexed by baseline corticosterone level), and are not constrained by parasites at production of status coloration. Furthermore, O-males are more successful at mate acquisition and guard their partners longer. Ultimately, they have a higher genetic reproductive success as assigned by microsatellites.Communicated by W. Cooper     

The Danish incinerator dioxin study. Part 1

During the last two years an extensive series of dioxin measurements has been conducted on Danish municipal and hospital solid waste incinerators. The study was directed toward finding the total annual dioxin emissions from MSWI in Denmark, now estimated to be 3 kg. of dioxines and furanes. This sum is equivalent to 50 g. of 2,3,7,8-TCDD according to the Nordic Equivalents. Measurements were carried out according to a statistical design following a plan of pre-randomized sampling. This procedure allowed causal interpretation of the correlations found between the dioxin emissions and certain operating parameters. The statistical model obtained describes the emissions by variations between incinerators, by variation in time, and by changes in the load, the excess air and the HCl concentration in the flue gas.     

Prenatal sonographic diagnosis of metastatic neuroblastoma: Report of a case and review of the literature

Congenital malignant tumours are rare. Neuroblastoma is the most common solid tumour, accounting for about 30–50 per cent of tumours evident during the neonatal period. A case of metastatic, rapidly growing neuroblastoma, diagnosed prenatally by ultrasound at 32 weeks' gestation, is presented.     

Tibial hemimelia syndrome: Prenatal diagnosis by real-time ultrasound

The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16·5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.