PubMed · 6378471
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
M L Socol, R K Tamura, R E Sabbagha. 1984. Multiple gestation.. https://doi.org/10.1097/00003081-198406000-00010
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
BACKGROUND: Prenatal diagnosis for chromosome abnormality is routinely undertaken by full karyotype analysis of chromosomes from cultured cells; pregnant women must wait on average 13-14 days for their results. Autosomal trisomies, which account for around 80% of significant abnormalities, can be detected by quantitative fluorescence (QF) PCR. We report on the development and implementation of this technique as the first such routine service within a diagnostic department of the UK National Health Service (NHS). METHODS: We designed a "one-tube test" comprising four primer pairs for polymorphic tetranucleotide repeat sequences on chromosome 21, four primer pairs for sequences on chromosome 18, three primer pairs for sequences on chromosome 13, and one primer pair to identify the sex chromosomes. All prenatal samples received by our NHS diagnostic department between April, 2000, and April, 2001, were tested. After DNA extraction, PCR amplification was done and the products separated on a capillary-based genetic analyser; the results were interpreted with dedicated software. Follow-up karyotype analysis was done on all samples. FINDINGS: 1148 amniotic fluid samples, 188 chorionic villus samples, and 37 fetal tissue samples were tested; the amplification failure rate was zero with our current protocol. QF-PCR results were obtained and reported on 1314 (98%) of the prenatal samples; the remaining 22 (2%) were uninformative because of maternal-cell contamination. One case of mosaicism in a chorionic villus sample, and two cases indicating somatic expansion of a tetranucleotide repeat were found. No false positive or false negative results were obtained. The mean reporting time for the last 4 months of data collection was 1.25 working days. INTERPRETATION: QF-PCR aneuploidy testing is an efficient and accurate technique for the detection of autosomal trisomies in prenatal samples. Implementation of this service has led to the rapid diagnosis of abnormalities and early reassurance for women with normal results.
BACKGROUND: The incidence of antepartum fetal death after 22 weeks of gestation is about 0.4% in Oslo, Norway. Screening routines will decide how many cases will remain unexplained. One quarter are diagnosed as Sudden Intrauterine Unexplained Death (SIUD). Precise knowledge of the cause of death is needed as a basis for counselling, prevention and treatment. MATERIAL AND METHODS: The implementation of diagnostic routines in stillbirths in Oslo from 1986 to 1995 was examined. A structured review has been prepared and new guidelines for diagnostic procedures have been adopted by The Perinatal Committees of Oslo and Akershus. RESULTS: Autopsies and placental investigations were performed in 88% of intrauterine deaths. Among SIUD cases (all autopsied), infectious causes were examined and excluded in 93%. In contrast Kleihauer-Betke test was performed in only 17%, autoantibodies explored in 24%, and glucose tolerance tested in 36% of cases. The recommended laboratory investigations are: autopsy, placental investigation, bacteriological culture and investigations of infections such as Toxoplasma gondii, cytomegalovirus, parvovirus B19 and Listeria monocytogenes, Kleihauer-Betke test, screening for diabetes, chromosome analysis of amniotic fluid and placental biopsy, and serology of antiphospholipids. INTERPRETATION: Both the content and implementation of diagnostic routines in the cases of antepartum fetal death has not been optimal in our region; there is need for a change.
Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid (AF) cells is a widespread technique for the rapid prenatal detection of specific chromosome aberrations. During a 6-year period (1993-1998) we used FISH for quick follow-up investigations in uncultured AF cells after finding an uncertain chromosome aberration in a first chorionic villus (CV) or AF sample in 79 cases. These FISH results were compared with conventional cytogenetic results of the AF cell cultures in all cases. We found discrepant FISH and cytogenetic results in four instances. In general, FISH on uncultured AF cells proved to be a reliable technique for the rapid differentiation between confined placental mosaicism and true fetal mosaicism, and between pseudomosaicism and true mosaicism, respectively. Uncultured cells may sometimes even better reflect chromosomal mosaicism than cultured cells, since they are not subject to culture induced selection mechanisms. However, we found evidence that exceptional cases of tissue confined mosaicism may go undetected in uncultured cells.