Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism.
Taiwan J Obstet Gynecol
; 54(5): 588-91, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26522116
ABSTRACT
OBJECTIVE:
To evaluate how interphase fluorescence in situ hybridization (FISH) played a role in genetic counseling when encountering prenatally detected fetal mosaicism cases. MATERIALS ANDMETHODS:
We retrospectively reviewed 17 cases of amniotic fluid specimens diagnosed with Level III chromosome mosaicism using in situ coverslip culture method. Among them, seven received additional interphase FISH tests; five were related to autosomal mosaicism and two others were due to sex chromosomes.RESULTS:
In the autosome group, one couple chose to terminate the pregnancy due to a high percentage of trisomy 21 cells (48.1%) shown on interphase FISH; in the gonosome group, one case chose termination as FISH exhibited as high as 80% of XXYY cells.CONCLUSION:
Performing interphase FISH on uncultured amniocytes for cases detected with mosaicism by traditional amniotic fluid culture provided quick confirmation of the karyotyping results; additionally, obtaining information about the extent of the abnormality involved using interphase FISH could also play a role in counseling patients on the decision making concerning the future of their pregnancies.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Trissomia
/
Hibridização in Situ Fluorescente
/
Aconselhamento Genético
/
Amniocentese
/
Líquido Amniótico
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Assunto da revista:
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Taiwan