The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities. We attempt here to determine, in principle, what percentage of abnormalities would be detectable if only CSP-FISH were performed without karyotype for prenatal diagnosis. A total of 146 128 consecutive karyotypes for prenatal diagnosis from eight centres in four countries for 5 years were compared with predicted detection if probes for chromosomes 13, 18, 21, X and Y were used, and assuming 100% detection efficiency. A total of 4163 abnormalities (2.85%) were found including 2889 (69. 4%) (trisomy 21, trisomy 18, trisomy 13, numerical sex chromosome abnormalities, and triploidies) which were considered detectable by FISH. Of these, 1274 were mosaics, translocations, deletions, inversions, rings, and markers which would not be considered detectable. CSP-FISH is a useful adjunct to karyotype for high risk situations, and may be appropriate in low risk screening, but should not be seen as a replacement for karyotype as too many structural chromosome abnormalities will be missed.

Implanted vascular access devices (ports) play a major role in the management of children with cystic fibrosis (CF) and many haematological conditions. With the expanding use of ports, new and more frequent complications are being encountered. To retrospectively review the complications associated with ports, the case notes of all patients who underwent insertion of a port between 1997 and 2000 were analysed. Details of the underlying disorder, type of vascular device, nature of use, and complications were recorded; 55 ports were inserted in 41 patients (a second port was required in 12, a third port in 2) during this period. Their underlying diagnoses were CF (11), haemophilia (4), haemolytic anaemias (2), immunological disorders (6), solid neoplasms (8), and leukaemia (10). Thirteen ports (24%) were removed and replaced for various complications: infection (2), blockage (4), leak (2), dislodgement (2), and malposition (3). Including four port-related problems managed conservatively (3 access problems managed by change in access technique; 1 blockage managed by urokinase), the over all complication rate was 31%. Ports thus have a high complication rate with long-term use. Selecting the right port system, proper installation of the port chamber, and efficient handling and maintenance by trained staff could prevent the vast majority of port-related complications.

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ESWL is effective in the pediatric population, and it can be safely performed without long-term bio-effects on the function or morphology of the growing kidney.

The prenatal sonographic features of congenital lobar emphysema (CLE) have not been well characterised. Five cases have been reported in the literature and on all these occasions either an echogenic (3) or a cystic (2) lung lesion was detected prenatally and the diagnosis was confirmed after the operation. This is the sixth case of CLE in the literature with prenatal sonographic features documented. The prenatal scans of a 23-year-old lady performed at 22 weeks of gestation revealed cystic lesions and increased echogenicity of the right fetal lung. There were no other anomalies and the karyotype was normal. The lesion decreased in size at 28 weeks and the baby was born by a normal vaginal delivery at 41 weeks. CT scan performed on day 6 confirmed cystic changes on the right lung with compression of the right lower lobe. A repeat CT scan performed at 4 months revealed extensive cystic changes in a hyper-inflated right lung and mediastinal shift to the left. At operation, abnormally inflated right upper and middle lobes were found suggesting a CLE. There were no subsequent complications after removal and histology confirmed CLE. The reported cases are reviewed and the prenatal sonographic features of CLE are discussed.

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