Beckwith-Wiedemann syndrome: antenatal diagnosis

The Beckwith-Wiedemann syndrome is an unusual complex with variable features. The major findings include abdominal wall defects, macroglossia and visceromegaly. These features should be amenable to antenatal ultrasound detection. Only a few such cases have been reported to date. Antenatal diagnosis allows optimum perinatal care. Hypoglycaemia in the neonatal period is common in these babies and requires early detection and appropriate management to prevent long-term intellectual complications. We present a case where the diagnosis was suggested prior to delivery.     

The antenatal diagnosis of sacrococcygeal teratoma

The teratomas are rarely met with the newborn and the sacrococcygeal teratomas are the most often among them. A private case is detailedly described, correctly diagnosed antenatally by the ultrasound method, the clinical session and the outcome of the pregnancy. In the discussion the theories of their origin are shown, the anomalies connected with them and the delivery. The opinions of other authors on this matter have been quoted.     

Methods of combined antenatal diagnosis of maturity

A combined diagnosis of maturity is described, which is harmless in a correct technique. The method can be carried out in each of obstetrical hospital together with a routine laboratory. By means of the combined diagnosis a "maturity-index" is performed, which permits a certain assessment of the survival-chance of the praemature delivered children. In connection with the ultrasound-cephalometrie also there is an exact evidence to the duration of pregnancy and the tendence of intrauterine growth of the fetus.     

Malrotation in newborns following antenatal diagnosis of intra-abdominal cyst

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited degenerative neurological diseases affecting children. A number of non-allelic variants have been identified within the human population and the genes for some of these have recently been identified. The underlying mechanism for the neuropathology remains an enigma; however, pioneering studies with the naturally occurring ovine model (OCL) have led to the proposal that these diseases represent lesions in specific hydrophobic protein degradation pathways. In this study, we show linkage between OCL and microsatellite markers on OAR 7q13-15. Using interspecies chromosome painting we establish that OAR 7q13-15 is syntenic with human chromosome 15q21-23, the region which was recently defined as the location of a newly identified late infantile variant (CLN6). We propose that our ovine model represents a mutation in the gene orthologous to that mutated in the human late infantile variant CLN6. The ovine linkage flock, consisting of 56 families, represents a powerful resource for positional cloning of this NCL gene. The availability of such a large animal model will have important implications for experimentation in downstream corrective therapies.     

Early antenatal ultrasound diagnosis of fetal intracranial teratoma

The commonest fetal intracranial tumour is a teratoma. The prognosis is poor with death usually occurring shortly after birth. Modern high resolution ultrasound scanners facilitate examination of the cranial contents, allowing earlier diagnosis. We report a case where an intracranial teratoma was identified at 21 weeks gestation, the earliest gestational age that this has been reported. The ultrasound appearances are discussed.     

Iron chelators for thalassaemia

We reported previously that a characteristic Epstein-Barr virus latent membrane protein 1 (EBV-LMP1) gene was associated with nasopharyngeal carcinoma (NPC) in Hong Kong. It showed a 30 bp deletion at the carboxyl terminus with specific amino acid substitution Asp at codon 335 with reference to Gly in B95-8 LMP1. This deletion variant Asp335 was present in over 90% of NPC biopsy specimens. The present study attempted to determine the whole encoding sequence of the LMP1 gene in different EBV isolates from NPC, and its relation with EBV types. We found that 92% (34/37) of primary NPC tumours harboured EBV-1 and possessed the LMP1 deletion variant, of which 86% were Asp335 and 6% were Gly335. EBV-2 was present in 8% (3/37) of tumours and all contained the retention variant of the LMP1 gene. Sequencing of the whole encoding region of the LMP1 gene revealed that the deletion variant Asp335 and deletion variant Gly335 carried similar sequences. They showed 43 common nucleotide substitutions in 41 codons with reference to B95-8. The retention variant showed 52 base changes in 46 codons compared with B95-8. The amino acid alterations in both the deletion and retention variants were mostly clustered at the transmembrane domain of the protein. Furthermore, half of the substitutions were common to both variants, suggesting a common evolutionary selection pressure. Nonetheless, the 2 LMP1 variants showed differences in nucleotide alterations and were associated with different EBV types, suggesting the presence of 2 distinct EBV strains in Hong Kong NPC.     

Amniocentesis for antenatal diagnosis. Review of problems and outcomes in a large series

The results of amniocentesis for diagnostic genetic studies on 242 patients are presented in detail. These suggest that obtaining fluid free from contaminating red blood cells is important to successful cell culture. The data also suggest that it is technically more difficult to obtain such fluid tham might be expected, despite the use of ultrasonic localization and experienced operators. Nevertheless, 97 per cent of patients who elect to complete antenatal diagnosis will ultimately obtain the information sought, in time to intervene medically if desired. Moreover, the act of obtaining this information is shown to be without significant risk to the ultimate outcome of pregnancy.     

Fatal Campylobacter jejuni infection in a patient splenectomised for thalassaemia

A 35 year old man with a fatal Campylobacter jejuni infection is described. He had HbE/beta zero thalassaemia and had undergone splenectomy nine months previously for hypersplenism; he also had chronic hepatitis C infection. He presented with high grade fever but no gastrointestinal symptoms and rapidly progressed to septicaemic shock and hepatic encephalopathy despite treatment with penicillin, gentamicin, and, later, chloramphenicol and ceftazidime. Only one case of Campylobacter jejuni septicaemia occurring post-splenectomy has been reported previously, also in an iron overloaded thalassaemia patient. Unusual Gram negative bacilli must be covered by the chosen antibiotic regimen when splenectomised thalassaemic patients present with high grade fever.     

Rapid enlargement of a choledochal cyst: antenatal diagnosis and delayed primary excision

A case of choledochal cyst (CC) antenatally diagnosed at 29 weeks' gestation is reported. Rapid enlargement of the cyst soon after delivery resulted in complete gastric outlet obstruction (GOO). The lesion was treated by external drainage as a temporary maneuver, with delayed cyst excision and hepaticoduodenostomy at the hepatic hilum performed at 81 days of age. Surgical treatment of CC in early infancy has been reported to be safe and effective. However, delayed primary excision would be an alternative procedure, especially in rare cases showing rapid enlargement resulting in GOO, since this choice has the potential advantage of allowing weight gain and improved nutritional status without risking interim complications due to the drainage procedure.     

Testing for fetal abnormality in routine antenatal care

The detection of fetal abnormality is a major component of routine antenatal care. A variety of techniques are now in use, although these are constantly being modified in the pursuit of more accurate and earlier detection. In this paper we draw attention to the distinction between screening and diagnostic tests, and describe the techniques which have been most commonly used in the UK: serum-screening for neural tube defects; screening for Down's syndrome; ultrasound scanning; amniocentesis and chorionic villus sampling.     

Detection of alpha thalassaemia in Negro infants

A prospective study of 2191 Negro infants in Jamaica showed that approximately 7% of them had detectable levels of Hb Bart's (gamma 4) in the neonatal period. The red cell indices, globin chain biosynthesis and restriction endonuclease mapping of DNA from these infants were used to determine the significance of Hb Bart's at birth. The results indicate that the genotypes alpha alpha/alpha alpha, -- alpha/alpha alpha and -- alpha/ -- alpha are associated with 0%, 0.1-2%, and greater than 2% Hb Bart's respectively. Although trace amounts of Hb Bart's may be associated with the genotype -- alpha/alpha alpha this is not always the case and therefore haemoglobin analysis in the neonatal period cannot be used to diagnose this genotype with any certainty.