The detection of chromosome anomalies by QF-PCR and residual risks as compared to G-banded analysis.
Prenat Diagn
; 31(5): 454-8, 2011 May.
Article
en En
| MEDLINE
| ID: mdl-21500231
ABSTRACT
OBJECTIVE:
To determine the detection rate of clinically significant chromosome abnormalities using quantitative fluorescent polymerase chain reaction (QF-PCR) of fetal DNA in comparison with G-banded analysis of cultured amniotic fluid cells and determine the residual risk if QF-PCR were performed alone for low-risk cases.METHODS:
Amniotic fluid samples were prospectively categorized based on the likelihood of the fetus having a chromosome anomaly. QF-PCR results were compared with the G-banded findings. The distribution of patients and the rates of clinically significant anomalies in each risk category were determined.RESULTS:
A total of 4176 amniotic fluid samples were studied. Among these, 331 cases with abnormalities were detected by both methods and an additional 19 abnormal cases were detected by G-banding only. Five of those undetected by QF-PCR were considered clinically significant, four of which were referred due to an elevated a priori risk (>4%). If QF-PCR is performed in all cases and G-banding performed only in higher risk cases, the residual risk for a clinically significant chromosome abnormality will be as low as 0.083%.CONCLUSIONS:
This study suggests that QF-PCR alone is appropriate for patients with uncomplicated pregnancies, who are referred solely for an increased risk of a common trisomy.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Reacción en Cadena de la Polimerasa
/
Aberraciones Cromosómicas
/
Bandeo Cromosómico
/
Trastornos de los Cromosomas
/
Enfermedades Fetales
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Prenat Diagn
Año:
2011
Tipo del documento:
Article
País de afiliación:
Canadá