PubMed · 4654167
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R O Brady. 1972. Lipidoses.. https://doi.org/10.1016/s0300-9084(72)80173-1
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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.
The diagnosis of congenital toxoplasmosis frequently relies on PCR tests of amniotic fluid (AF). A duplex real-time quantitative PCR test based on fluorescence resonance energy transfer was developed to quantify the parasite load and to decrease the risk of contamination. An internal control based on the detection of 10 pg mouse DNA added to the AF was included to check for PCR efficiency. The relationship between the parasite load and the occurrence of ultrasonographic abnormalities in 87 samples of AF was analyzed. Seven AF (8%) had a parasitic load > 10(3); 14 (16%) had > 10(2)-< or =10(3); 26 (30%) had > 10-< or = 10(2); and 40 (46%) had < or = 10 parasites/ml. Four of the six AF with cerebral ventriculomegaly had >10(3) parasites/ml. The other two had 130 and 24 parasites/ml, respectively. No parasitic loads of > 10(3) parasites/ml and no ultrasonographic abnormalities were observed in the 11 AF with maternal toxoplasmosis in the third trimester. Therefore, there is a trend to associate high parasite count with ultrasonographic abnormality, but the main concern remains early maternal infection. The importance of quantification should be better evaluated with postnatal studies. The duplex LightCycler PCR test currently provides rapid and safe results.