title: Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses.
abstract: Rapid prenatal detection of selected numerical chromosomal abnormalities by using fluorescence in situ hybridization (FISH) on uncultured amniotic fluid samples was described six years ago. It allows a very rapid identification of selected aneuploidies. We have indexed the results of our 27407 fetal karyotypes obtained by conventional cytogenetics during the last five 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.
authors.affiliation: Department of Human Genetics, Pasteur Cerha Laboratory, Cergy Pontoise, France. plewin@pasteur-cerba.com
authors.forename: P
authors.initials: P
authors.lastname: Lewin
authors.forename: P
authors.initials: P
authors.lastname: Kleinfinger
authors.forename: A
authors.initials: A
authors.lastname: Bazin
authors.forename: H
authors.initials: H
authors.lastname: Mossafa
authors.forename: S
authors.initials: S
authors.lastname: Szpiro-Tapia
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology*; D002869:Chromosome Aberrations; D015331:Cohort Studies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis / Q000379:methods*; D011379:Prognosis; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal