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Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses

✍ Scribed by Patricia Lewin; Pascale Kleinfinger; Anne Bazin; Hossein Mossafa; Sylvie Szpiro-Tapia

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
77 KB
Volume
20
Category
Article
ISSN
0197-3851

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✦ Synopsis

Rapid prenatal detection of selected numerical chromosomal abnormalities by using ¯uorescence in situ hybridization (FISH) on uncultured amniotic ¯uid samples was described six years ago. It allows a very rapid identi®cation of selected aneuploidies. We have indexed the results of our 27 407 fetal karyotypes obtained by conventional cytogenetics during the last ®ve years, noting the type of chromosomal abnormality and the reasons for prenatal diagnosis. We have also indexed the chromosomal abnormality regarding the prognosis of the chromosomal aberations to evaluate the real impact of a non-diagnosis. Within the population of bad prognosis abnormalities, the percentage of abnormalities with bad prognosis detectable by FISH is 94.6% for advanced maternal age, 85.3% for ultrasonographic anomalies and 86.4% for positive maternal screening. The use of FISH alone on our cohort is not a suitable method to diagnose the chromosomal abnormalities.

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