Preimplantation genetic diagnosis of chromosomal abnormalities by multicolour fluorescence in situ hybridisation.
J Indian Med Assoc
;
2001 Aug; 99(8): 441-4
Artículo
en Inglés
| IMSEAR
| ID: sea-102968
ABSTRACT
Preimplantation genetic diagnosis (PGD) is an early diagnosis of genetic disorders, prior to the onset of pregnancy. PGD incorporates the latest techniques in assisted reproduction and molecular genetics. Embryos or oocytes are biopsied during culture in vitro and genetic analysis is carried out on the blastomeres or polar bodies. Embryos shown to be free of the genetic disease under investigation are transferred to the uterus. Multicolour fluorescence in situ hybridisation (FISH) is used to diagnose numerical and certain structural abnormalities of chromosomes in the embryo. The common probes used are for chromosomes 13, 18, 21, X and Y. FISH can also be used for PGD of translocations, when one of the parents is a carrier. PGD was carried out recently in 4 cases using multicolour FISH. In one of the embryos, trisomy 18 was detected. Tetraploidy was seen in another embryo. Only chromosomally normal embryos were transferred back to the uterus. Care has to be taken while interpreting FISH signals as the signal may be split, diffused, superimposed or in a different focus.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Blastómeros
/
Femenino
/
Humanos
/
Embarazo
/
Fertilización In Vitro
/
Pruebas Genéticas
/
Estudios Prospectivos
/
Aberraciones Cromosómicas
/
Sensibilidad y Especificidad
/
Hibridación Fluorescente in Situ
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio de tamizaje
Idioma:
Inglés
Revista:
J Indian Med Assoc
Año:
2001
Tipo del documento:
Artículo
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