Twin–twin transfusion syndrome—possible roles for doppler ultrasound and amniocentesis

A 29-year-old woman was referred for suspicion of twin-twin transfusion syndrome (TTTS). Several ultrasonographic and neonatal criteria of TTTS were encountered in this twin pregnancy. The peculiar observations in this case were, firstly, the demonstration of superficial anastomosis by Doppler ultrasound and, secondly, that one single therapeutic amniocentesis could have been sufficient to partially correct the progression of the syndrome, as after amniocentesis it was no longer possible to demonstrate the vascular communication. This observation suggests that superficial anastomoses could also have a role in the genesis of TTTS. Their effect could be monitored by Doppler ultrasound and could be more easily corrected by therapeutic amniocentesis.     

Prenatal transvaginal diagnosis of the ectrodactyly,ectodermal dysplasia,cleft palate (EEC) syndrome

Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster-claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate). The fetus was aborted and the diagnosis of EEC syndrome was confirmed.     

Co-amplification of the cystic fibrosis ΔF508 mutation with the HLA DQA1 sequence in single cell PCR: Implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis

We have developed a heminested PCR (polymerase chain reaction) method, performed on single cells, for the analysis of the most common cystic fibrosis (CF) mutation (AF508). As a quality control, the polymorphic exon 2 of the HLA DQA1 locus was co-amplified from the same cell. With a non-radioactive reverse dot-blot assay, the genotype of these two loci could be determined. Experiments on 98 single fibroblasts, heterozygous for the CFTR and the DQA1 locus, showed that amplification of either locus could be obtained in 97 per cent of the cases, but only 90 per cent showed heterozygosity for CF, 75 per cent showed heterozygosity for DQA1, and 74 per cent showed heterozygosity for both CF and DQA1. Contaminations detected only after DQA1 typing occurred in 3 per cent of our samples. Error rate calculations based on our experimental PCR data indicate that single blastomere diagnosis would lead to unacceptable errors, i.e., an affected fetus, in less than 1 per cent of the cases. The risk of undetected crossing-over or the dubious results that crossing-over could generate, would make isolated polar body diagnosis at the present time very difficult. The combined approach of PCR on polar bodies followed by confirmation of the diagnosis on blastomeres, however, should give a solid base for preimplantation diagnosis of monogenic disorders.     

Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization

A 45,X/46,Xder(Y) mosaicism detected prenatally was shown to have a rare Y inversion- duplication or Y/Y translocation which can only be identified by a combination of high resolution cytogenetics and fluorescence in situ hybridization. The present data indicate the usefulness and importance of chromosome-specific probes in the identification and characterization of chromosome rearrangements.     

Fetal presentation of morquio disease type A

A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of β-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.     

In utero sonographic diagnosis of diaphragmatic hernia with hepatic protrusion into the pericardium mimicking an intrapericardial tumour

A case of right-sided congenital diaphragmatic hernia was detected at 33 weeks of gestation. Fetal echocardiography revealed the presence of an intrapericardial mass (3.5 × 3 cm) localized at the right of the heart and surrounded by a massive pericardial effusion. This mass had the same echogenicity as the liver, with which it shared vascular channels. The diagnosis of right diaphragmatic hernia with protrusion of hepatic tissue into the pericardial sac and secondary pericardial effusion was made and confirmed after birth. In utero diagnosis of this anomaly enabled correct assessment of perinatal risk, and optimal fetal and infant management.     

Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme a thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method

Mitochondrial acetoacetyl-coenzyme A (CoA) thiolase deficiency is an organic aciduria which affects isoleucine and ketone body catabolism. GK16 (the index patient) was affected with this disorder and previous studies had revealed that GK16 was a compound heterozygote with IVS8(+1) gt to tt and A301P mutations. In a subsequent pregnancy, prenatal diagnosis was performed and the fetus's amniocytes were analysed by the polymerase chain reaction (PCR) followed by the heteroduplex detection method on a Mutation Detection Enhancement gel. The fetus was identified as a carrier of the IVS8(+1) mutation. We confirmed the diagnosis by immunoblot analysis of extracted amniocytes and gene analysis with blood filter paper after delivery. This is the first report of prenatal diagnosis of this disorder at the gene level.     

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester

Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15+4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19+4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.     

A note on Prudencio's experimental tests of the coase propositions

The purpose of this note is to review Prudencio's recent experimental test of the Coasian propositions of neutrality and efficiency. His conclusion that the propositions are statistically supported by the experimental results is not substantiated. A careful examination of the design and methodology of the experiment leads to the conclusion that the experimental bargaining cannot be considered voluntary, and that the results are likely to be influenced by hypothetical bias. Other problems with the representativeness of Prudencio's participants are also discussed.     

Spatial distribution,population dynamics and productivity of <Emphasis Type="Italic">Spisula subtruncata</Emphasis>: implications for <Emphasis Type="Italic">Spisula</Emphasis> fisheries in seaduck wintering areas

Bivalves are important in shallow marine habitats, not at least being the major food resource for seaducks such as the common scoter (Melanitta nigra), thousands of which are wintering on the Western Coastal Banks, near the Belgian-French border (North Sea). Next to this ecological importance, fishable stocks of one of these bivalves, Spisula subtruncata, occur in the area. This study aimed at investigating S. subtruncata’s spatial distribution, population dynamics and productivity and its implications for a sustainable Spisula fishery in seaduck wintering areas. The spatial distribution of S. subtruncata was studied in 1994 and 1997 in two areas of the Belgian Western Coastal Banks. The population dynamics and production were investigated by monthly sampling of two stations between April 1995 and April 1996 and a seasonal sampling between April 1996 and April 1998. Spisula subtruncata had a patchy distribution in the deeper (6 m), fine sandy (200 ± 20 μm) sediments of the Abra alba community, mainly found in the western most part of the Western Coastal Banks. In August 1995, an overwhelming and successful recruitment was observed in this area: local densities were as high as 150,000 ind m⁻². Minor, non-successful recruitments were detected in August 1996 and 1997. Due to space limitation, high densities of S. subtruncata are hypothesized to be responsible for the occurrence of aberrant shapes as observed from August 1996 onwards. Growth was described by a seasonally oscillating version of the von Bertalanffy growth function (VBGF): a growth stop was observed from late autumn till early spring. The VBGF parameters K (growth constant) and L _∞ (asymptotic length) were estimated at 0.7–0.9 and 31–33 mm. A combination of length and individual biomass increment showed: (1) a faster length increment of smaller individuals during the second growing period (catching-up phenomenon), (2) a constant length combined with a decreasing individual biomass during the suboptimal winter periods (except for the first winter, when the individual biomass slightly increased), (3) a positive relationship between the individual biomass decrease and the seawater temperature during the winter periods, and (4) a strong increase of the individual biomass in early spring (April 1997 and 1998) because of gametogenesis, followed by a decrease because of spawning (August 1997). The extremely high total production of the 1995 year class in the tidal gully (Potje) during the study period was estimated at approximately 1,500 g ash-free dry weight (ADW) m⁻² or 600 g ADW m⁻² on average per year. Shellfisheries for S. subtruncata within seaduck wintering areas, such as the Western Coastal Banks, should be carefully deliberated since (1) an important food resource for the seaducks will decrease, (2) the ecologically most diverse and rich macrobenthic A. alba community will be heavily affected, and (3) the recovery of Spisula populations after depletion is expected to be erratic.