Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses.
Prenat Diagn
; 33(10): 940-4, 2013 Oct.
Article
em En
| MEDLINE
| ID: mdl-23939830
ABSTRACT
OBJECTIVE:
To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses.METHODS:
A retrospective review of 470 patients referred to our unit for FR from January 2007-March 2011. Prenatal diagnosis was offered to all. FR was performed after next-day FISH results. Abnormalities were categorized by ultrasound, FISH, and/or karyotype. Sensitivity, specificity, positive predictive value, and negative predictive value of pre-FR FISH were calculated.RESULTS:
Four hundred thirty-two of 470 patients seen were first trimester. 24/432 (5.2%) were excluded for abnormal ultrasound findings, including nuchal translucency (NT) > 3.0 mm, and 360 (88.2%) underwent CVS before FR. Ten fetuses were then excluded for euploid sex mosaicism. 10/350 (2.9%) patients with normal ultrasounds had abnormal FISH confirmed by karyotype. 9/350 (2.6%) patients with normal FISH had an abnormal karyotype necessitating follow up amniocentesis in which the clinically relevant discordancy was confirmed in one case (1/350, 0.3%). Pre-FR FISH had a 90% sensitivity, 99.4% specificity, 83.3% positive predictive value, and 99.7% negative predictive value.CONCLUSIONS:
3.1% of patients with normal-appearing fetuses prior to first trimester FR had a fetus with an abnormal karyotype of which FISH detected 90%. CVS with FISH prior to FR adds significant information that can guide reduction decisions.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Amostra da Vilosidade Coriônica
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Testes Genéticos
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Ultrassonografia Pré-Natal
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Aberrações Cromossômicas
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Hibridização in Situ Fluorescente
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Redução de Gravidez Multifetal
Tipo de estudo:
Diagnostic_studies
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Evaluation_studies
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Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos