Figure 3 - uploaded by Donatella Conconi
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FISH analyses of cases 3, 4, 5, and 6. A: QFQ banded metaphase with trisomy of chromosome 13 (arrows). B: Interphase FISH analysis of amniotic fluid cells with commercial probes specific for chromosomes 13 (green) and 21 (red) (CytoCell). C: Partial QFQ banded metaphase with trisomy of chromosome 11 (arrows). D: Interphase FISH analysis of amniotic fluid nuclei with the D11Z1 commercial probe (red) (CytoCell). E: Partial QFQ banded metaphase with trisomy of chromosome 7 (arrows). F: Interphase FISH analysis of amniotic fluid nuclei with commercial probes specific for CEP7 (green) and CEP3 (red) as control (Vysis). G: QFQ banded metaphase with trisomy of chromosome 8 (arrows). H: Interphase FISH analysis of amniotic fluid cells with LSI IGH (green), LSI MYC (red), and CEP8 (aqua) probes (Vysis).
Source publication
Since its introduction around the end of the 1970s, interphase fluorescence in situ hybridization (FISH) supports both classical and recent techniques for determining fetal karyotypes during prenatal diagnosis, quickly providing relevant information for the management of pregnancy. Interphase FISH plays an important role in the study of pregnancies...
Contexts in source publication
Context 1
... cases: Case 3 A 40-year-old woman underwent chorionic villi sampling at the 14 th week of gestation for advanced maternal age. The karyotype on direct CVS preparation (short-term culture) evidenced two cellular lines: one with a normal male karyotype (46,XY; 6 metaphases) and one with a trisomy of chromosome 13 (47,XY,+13; 6 metaphases) as seen in Figure 3A. Mesenchymal long-term culture showed only a normal male karyotype (46,XY). ...
Context 2
... FISH analysis of amniotic fluid cells with chromosomes 13 and 21 probes revealed only disomic nuclei in 100 nuclei scored ( Figure 3B). Chromosomal analysis on metaphases showed a normal male karyotype (46,XY). ...
Context 3
... 4 A 38-year-old woman underwent amniotic fluid sampling at the 16 th week of gestation for advanced maternal age. The chromosomal analysis revealed the presence of one clone with trisomy 11 (47,XY,+11) as seen in Figure 3C, and 12 clones from 4 independent cultures (in situ chromosomal preparations) with a normal male karyotype (46,XY). ...
Context 4
... FISH analysis on a second sample of uncultured amniotic fluid nuclei with a chromosome 11 alpha satellite probe (D11Z1) showed disomic nuclei in 100 nuclei scored ( Figure 3D). Uniparental disomy for chromosome 11 was excluded. ...
Context 5
... 44-year-old woman underwent amniotic fluid sampling at the 16 th week of gestation for advanced maternal age. The chromosomal analysis revealed the presence of 4 metaphases from two independent cultures with trisomy 7 (47,XY,+7) as seen in Figure 3E, and 21 metaphases from 3 independent cultures with a normal male karyotype (46,XY); chromosomal preparations were made after culture trypsinization. ...
Context 6
... FISH analysis on a second sample of uncultured amniotic fluid nuclei with a chromosome 7 alpha satellite probe (CEP7), as well as a chromosome 3 alpha satellite probe (CEP3) that was used as internal control, showed disomic nuclei in 100 nuclei scored ( Figure 3F). Uniparental disomy for chromosome 7 was excluded. ...
Context 7
... 6 A 38-year-old woman underwent chorionic villi sampling at the 15 th week of gestation for advanced maternal age. The karyotype on direct CVS preparation (short-term culture) evidenced two cellular lines: the first with a normal female karyotype (46,XX; 22 metaphases) and the second with a trisomy of chromosome 8 (47,XX,+8; 8 metaphases) as seen in Figure 3G. Mesenchymal long-term culture showed only a normal female karyotype (46,XX). ...
Similar publications
rDNA clusters are an important cytogenetic marker for studying karyotype evolution and chromosomal changes. The variability of this cytogenetic characteristic is, however, still almost unknown in the karyotypes of the entire class Arachnida (Arthropoda: Chelicerata). This situation is particularly evident in harvestmen (Arachnida: Opiliones), with...
Citations
... ,Pellestor et al. (2011), Liehr (2017, chapter "Commercial FISH-probes"Sala et al. (2019) Postnatal FISH ...
Here the role of molecular cytogenetics in the context of yet available all other cytogenomic approaches is discussed. A short introduction how cytogenetics and molecular cytogenetics were established is followed by technical aspects of fluorescence in situ hybridization (FISH). The latter contains the methodology itself, the types of probe- and target-DNA, as well as probe sets. The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. Overall, molecular cytogenetics is far from being outdated and actively involved in up-to-date diagnostics and research.
... S El FISH en amniocitos en interfase no solo fue utilizado para el diagnóstico de aneuploidías cromosómicas, también se utilizó con buenos resultados para la detección de deleciones en casos de síndromes de microdeleciones. Resultados exitosos en la detección de estas aberraciones cromosómicas también han sido registrados en la literatura internacional.(24,25,26,27) En nuestro estudio la contaminación con células maternas no constituyó un problema realmente. ...
Introducción:
El diagnóstico prenatal mediante la hibridación fluorescente in situ disminuye el tiempo de diagnóstico al no ser necesario el cultivo celular.
Objetivo:
Describir las características y experiencias del diagnóstico prenatal por hibridación fluorescente in situ en Cuba.
Método:
En amniocitos in situ se aplicaron sondas CEP y LSI para la detección de aneuploidías de los cromosomas 21,18,13, X y Y y sondas LSI para la detección de deleciones asociadas a síndromes de microdeleción.
Resultados:
Se remitieron al Centro Nacional de Genética Médica 629 casos de alto riesgo genético. Prevaleció la indicación de alteraciones fetales detectadas por ecografía. En 612 (97 %) casos se obtuvo un diagnóstico satisfactorio, entre ellos, 50 (8,1 %) casos positivos, con predominio del síndrome Down en 26 casos. Se corroboraron por citogenética convencional 312 casos con 98 % de concordancia con los resultados obtenidos por hibridación fluorescente in situ. Se utilizó el líquido amniótico refrigerado para corroborar casos de diagnóstico dudoso obtenido por citogenética y se detectaron 3 fetos con mosaicos cromosómicos, el origen de un cromosoma marcador y la definición del sexo fetal en un caso.
Conclusiones:
Con la tecnología por hibridación fluorescente in situ el diagnóstico prenatal logra una segura opción de análisis en aquellos casos de embarazos de alto riesgo genético. Debido a limitaciones tecnológicas, la prueba por hibridación fluorescente in situ en células amnióticas en interfase, se ha adaptado a nuestras condiciones, para lograr siempre un diagnóstico seguro con el menor perjuicio posible a la embarazada, el feto y su familia.
... S El FISH en amniocitos en interfase no solo fue utilizado para el diagnóstico de aneuploidías cromosómicas, también se utilizó con buenos resultados para la detección de deleciones en casos de síndromes de microdeleciones. Resultados exitosos en la detección de estas aberraciones cromosómicas también han sido registrados en la literatura internacional.(24,25,26,27) En nuestro estudio la contaminación con células maternas no constituyó un problema realmente. ...
Introduction: Prenatal diagnosis by fluorescent in situ hybridization decreases the time of
diagnosis not being necessary the cell culture.
Objective: To describe the characteristics and experiences of prenatal diagnosis by
fluorescent in situ hybridization in Cuba.
Method: In in situ amniocytes CEP catheters were applied and LSI for the detection of
aneuploidies of the 21,18,13, X and Y chromosomes, and LSI catheters for the detection of
deletions associated with microdeletion syndromes.
Results: 629 cases of high genetic risk were referred to the National Center of Medical
Genetics. There was a prevalence of the indication of fetal abnormalities detected by
ultrasound. In 612 (97%) cases the diagnosis was achieved in a satisfactory form, among
them 50 (8.1%) positive cases, with predominance of Down syndrome in 26 cases. There
were corroborated 312 cases by conventional cytogenetics with 98% of agreement with the
results obtained by fluorescent in situ hybridization. It was used the cooled amniotic fluid
to corroborate cases of uncertain diagnosis obtained by cytogenetics and there were detected
3 fetuses with chromosomal mosaics, the origin of a marker chromosome and the definition
of fetal sex in one case.
Conclusions: With the technology by fluorescent in situ hybridization, the prenatal
diagnosis achieved a safe analysis option in cases of genetic high-risk pregnancies. Due to
technological limitations, the test by fluorescent in situ hybridization in amniotic cells in
interphase has adapted to the conditions in order to always achieve a safe diagnosis with the
less possible damage to the pregnant women, the fetus and its family.
