Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis

Maria Dolores Coll Sandiumenge; Jose Egozcue Cuixart; Enric Querol Murillo

doi:10.1016/0378-3782(93)90205-9

Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis

Maria Dolores Coll Sandiumenge, Jose Egozcue Cuixart, Enric Querol Murillo

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The reliability of FISH was appraised using probes for the X and Y chromosome and for chromosomes 12 and 18 in prenatal and adult interphase nuclei. Detection of a single hybridization spot proved to be quite reliable (80-92% positive nuclei). Detection of two hybridization spots was more difficult; percentages of nuclei showing two signals varied between 62-72%. The percentages of nuclei with the correct number of spots was higher in the metaphases occasionally found. Thus, FISH may complement but not replace cytogenetic analysis. For sex determination and for the detection of mosaicism, we suggest the use of two different probes in separate regions of the same preparation. © 1993.

Idioma original	Anglès
Pàgines (de-a)	101-108
Revista	Early Human Development
Volum	33
Número	2
DOIs	https://doi.org/10.1016/0378-3782(93)90205-9
Estat de la publicació	Publicada - 1 de gen. 1993

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10.1016/0378-3782(93)90205-9

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@article{6a2a4c32a3d1499ca7ec97d1c9d4d085,

title = "Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis",

abstract = "The reliability of FISH was appraised using probes for the X and Y chromosome and for chromosomes 12 and 18 in prenatal and adult interphase nuclei. Detection of a single hybridization spot proved to be quite reliable (80-92% positive nuclei). Detection of two hybridization spots was more difficult; percentages of nuclei showing two signals varied between 62-72%. The percentages of nuclei with the correct number of spots was higher in the metaphases occasionally found. Thus, FISH may complement but not replace cytogenetic analysis. For sex determination and for the detection of mosaicism, we suggest the use of two different probes in separate regions of the same preparation. {\textcopyright} 1993.",

keywords = "amniocytes, chorionic villi, in situ hybridization, probes",

author = "{Coll Sandiumenge}, {Maria Dolores} and {Egozcue Cuixart}, Jose and {Querol Murillo}, Enric",

year = "1993",

month = jan,

day = "1",

doi = "10.1016/0378-3782(93)90205-9",

language = "English",

volume = "33",

pages = "101--108",

journal = "Early Human Development",

issn = "0378-3782",

publisher = "Elsevier Ireland Ltd",

number = "2",

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TY - JOUR

T1 - Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis

AU - Coll Sandiumenge, Maria Dolores

AU - Egozcue Cuixart, Jose

AU - Querol Murillo, Enric

PY - 1993/1/1

Y1 - 1993/1/1

N2 - The reliability of FISH was appraised using probes for the X and Y chromosome and for chromosomes 12 and 18 in prenatal and adult interphase nuclei. Detection of a single hybridization spot proved to be quite reliable (80-92% positive nuclei). Detection of two hybridization spots was more difficult; percentages of nuclei showing two signals varied between 62-72%. The percentages of nuclei with the correct number of spots was higher in the metaphases occasionally found. Thus, FISH may complement but not replace cytogenetic analysis. For sex determination and for the detection of mosaicism, we suggest the use of two different probes in separate regions of the same preparation. © 1993.

AB - The reliability of FISH was appraised using probes for the X and Y chromosome and for chromosomes 12 and 18 in prenatal and adult interphase nuclei. Detection of a single hybridization spot proved to be quite reliable (80-92% positive nuclei). Detection of two hybridization spots was more difficult; percentages of nuclei showing two signals varied between 62-72%. The percentages of nuclei with the correct number of spots was higher in the metaphases occasionally found. Thus, FISH may complement but not replace cytogenetic analysis. For sex determination and for the detection of mosaicism, we suggest the use of two different probes in separate regions of the same preparation. © 1993.

KW - amniocytes

KW - chorionic villi

KW - in situ hybridization

KW - probes

U2 - 10.1016/0378-3782(93)90205-9

DO - 10.1016/0378-3782(93)90205-9

M3 - Article

SN - 0378-3782

VL - 33

SP - 101

EP - 108

JO - Early Human Development

JF - Early Human Development

IS - 2

ER -

Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis

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