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 .     

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.     

Three-dimensional ultrasound in prenatal diagnosis of skeletal dysplasia

A lethal form of bone dysplasia, platylospondylic lethal chondrodysplasia, was diagnosed prenatally using three-dimensional ultrasound. The various types of three-dimensional imaging mode provided diagnostic details not available by conventional two-dimensional ultrasound. The diagnosis was made after referral in the 23rd week of gestation, allowing termination of pregnancy due to the poor prognosis. Prenatal sonograms were compared with postnatal radiographs.     

Maternal serum biochemical markers in pregnancies with fetal parvovirus B19 infection

Hydrops fetalis and fetal death caused by fetal parovirus B19 infection have been reported to be associated with elevated maternal serum alpha-fetoprotein (AFP), based on a total of six cases. It has been suggested that the absence of AFP elevation may be reassuring. Maternal serum levels of the Down syndrome screening markers unconjugated oestriol and human chorionic gonadotropin in cases of fetal parvovirus infection have not been previously reported. We report four cases of hydrops fetalis and fetal death caused by fetal parvovirus infection, each with unremarkable second-trimester levels of AFP, unconjugated oestriol, and human chorionic gonadotropin.     

‘False-negative’ and ‘false-positive’ prenatal cytogenetic results due to ‘true’ mosaicism

A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period between communication of the result and termination of pregnancy. Unexpectedly all cells after DP showed a normal male chromosome complement. Further investigations revealed mosaicism in trophoblast tissue and a normal karyotype in amniotic fluid cells and fetal blood (50 mitoses each). The parents elected to continue the pregnancy after extensive ultrasound examinations did not show suspicious findings. After the birth of a healthy child, cell cultures from ten different placental sites confirmed mosaicism. Four out of 100 mitoses from a lymphocyte culture showed an additional chromosome 21. The child had no dysmorphic features and the development was normal at the age of 10 weeks. This case demonstrates the restricted validity of prenatal cytogenetic analysis in the presence of true fetal mosaicism. It also stresses the benefit of our policy to offer a retap in cases with abnormal cytogenetic results prior to termination of pregnancy which is considered unnecessary by many cytogeneticists.     

Effects of sublethal exposure to a pesticide on levels of energetic compounds in Anguilla anguilla.

Abstract

The effect of two sublethal fenitrothion concentrations (0.02 and 0.04 mg/L) on the energy metabolism of the european eel Anguilla anguilla and its recovery from intoxication was investigated. Analysis of various parameters such as glycogen, proteins and total lipids was made on liver and muscle eel tissues after 2, 8, 12, 24, 32, 48, 56, 72 and 96 hr of fenitrothion (0,0‐dimethyl 0–3‐methyl‐4‐nitrophenyl phosphorothioate) exposure. Subsequently, the fish were allowed recovery periods of 8, 12, 24, 48, 72, 96, 144 and 192 hr in clean water, and the same parameters were again evaluated. The results obtained during the exposure to the pesticide as well as during the recovery phase were used to calculate the caloric content in both tissues of A. anguilla. A reduction in energy reserves in the selected tissues was observed after exposure to both fenitrothion concentrations and the caloric content in those animals was lower than in the controls. Most of the metabolic disorders did not persist after allowing recovery in clean water during a week.