[Application of chromosomal microarray analysis in prenatal diagnosis for fetal abnormalities detected by ultrasonography].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(3): 317-320, 2017 Jun 10.
Article
en Zh
| MEDLINE
| ID: mdl-28604946
ABSTRACT
OBJECTIVE:
To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.METHODS:
Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.RESULTS:
Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.CONCLUSION:
CMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Ultrasonografía Prenatal
/
Trastornos de los Cromosomas
/
Análisis por Micromatrices
/
Enfermedades Fetales
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2017
Tipo del documento:
Article
País de afiliación:
China